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Report for SNP rs1127354

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 An International, Multi-Center Study Evaluating the Correlation of IL28B Genotypes With Patient Demographics and Disease Characteristics in Patients With Chronic Hepatitis C

This multicenter study will evaluate the correlation of interleukin 28B (IL28B) genotypes with disease characteristics and demographics in treatment-naïve and treatment-experienced chronic hepatitis C patients, including patients with HIV co-infection. There will be a single study visit for testing.

NCT01675427 Hepatitis C, Chronic Other: Interleukin 28B testing
MeSH:Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis
HPO:Hepatitis

Participants underwent blood sampling at the Study Visit to determine IL28B genotype.. Number of Participants With Inosine Triphosphatase (ITPA) Genotype rs7270101 by ITPA Genotype rs1127354 Category: Treatment-Naive.

Participants underwent blood sampling at the Study Visit to determine ITPA genotype.. Number of Participants With ITPA Genotype rs7270101 by ITPA Genotype rs1127354 Category: Treatment-Experienced.

Participants underwent blood sampling at the Study Visit to determine ITPA genotype.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Region: Treatment-Naive.

HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Region: Treatment-Experienced.

HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Naive (Table 1 of 2 [G1, G2, G3]).

HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Naive (Table 2 of 2 [G4, Other, Total]).

HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Experienced (Table 1 of 2 [G1, G2, G3]).

HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.. Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Experienced (Table 2 of 2 [G4, Other, Total]).

Number of Participants With ITPA Genotype rs1127354 by Incidence of Hemoglobin Drop During Prior Treatment and HCV RNA Genotype.

Participants with a history of a hemoglobin level less than 10 g/dL or a drop of more than 3 g/dL at any time during prior treatment for CHC were recorded as 'yes' for this finding.. Number of Participants With ITPA Genotype rs1127354 by Erythropoietin Use During Prior Treatment and HCV RNA Genotype.

Primary Outcomes

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype (Genotype 1 [G1], Genotype 2 [G2], Genotype 3 [G3], Genotype 4 [G4], and all other genotypes [Other]) and cirrhosis status ('Cirrhosis/transition to cirrhosis' or 'No cirrhosis') were obtained from medical records. Cirrhosis status was based upon previous biopsy or noninvasive assessment captured prior to treatment, if applicable.

Measure: Number of Participants With Interleukin 28B (IL28B) Genotype rs12979860 by Cirrhosis Status and Hepatitis C Virus (HCV) Ribonucleic Acid (RNA) Genotype: Treatment-Naive

Time: Study Visit 1 (single study visit)

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and cirrhosis status were obtained from medical records. Cirrhosis status was based upon previous biopsy or noninvasive assessment captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by Cirrhosis Status and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and cirrhosis status were obtained from medical records. Cirrhosis status was based upon previous biopsy or noninvasive assessment captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by Cirrhosis Status and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and cirrhosis status were obtained from medical records. Cirrhosis status was based upon previous biopsy or noninvasive assessment captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by Cirrhosis Status and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage ('Cirrhotic,' 'Transition to cirrhosis,' 'Advanced fibrosis noncirrhotic,' 'Mild/minimal fibrosis,' and 'No fibrosis') were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using these five categories and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage ('Cirrhotic,' 'Transition to cirrhosis,' 'Advanced fibrosis noncirrhotic,' 'Mild/minimal fibrosis,' and 'No fibrosis') were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using these five categories and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage ('Cirrhotic,' 'Transition to cirrhosis,' 'Advanced fibrosis noncirrhotic,' 'Mild/minimal fibrosis,' and 'No fibrosis') were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using these five categories and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage ('Cirrhotic,' 'Transition to cirrhosis,' 'Advanced fibrosis noncirrhotic,' 'Mild/minimal fibrosis,' and 'No fibrosis') were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using these five categories and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage (Stage F0, Stage F1, Stage F2, Stage F3, or Stage F4) were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by METAVIR Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage (Stage F0, Stage F1, Stage F2, Stage F3, or Stage F4) were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by METAVIR Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage (Stage F0, Stage F1, Stage F2, Stage F3, or Stage F4) were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by METAVIR Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver fibrosis stage (Stage F0, Stage F1, Stage F2, Stage F3, or Stage F4) were obtained from medical records. Liver fibrosis stage was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by METAVIR Liver Fibrosis Stage and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver elastography (FibroScan) were obtained from medical records. FibroScan values were based upon previous noninvasive assessment captured prior to treatment, if applicable. Mean FibroScan values were determined by averaging the values of all participants within each arm and expressed in kilopascals (kPa).

Measure: Mean FibroScan Values by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver elastography (FibroScan) were obtained from medical records. FibroScan values were based upon previous noninvasive assessment captured prior to treatment, if applicable. Mean FibroScan values were determined by averaging the values of all participants within each arm and expressed in kPa.

Measure: Mean FibroScan Values by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver elastography (FibroScan) were obtained from medical records. FibroScan values were based upon previous noninvasive assessment captured prior to treatment, if applicable. Mean FibroScan values were determined by averaging the values of all participants within each arm and expressed in kPa.

Measure: Mean FibroScan Values by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver elastography (FibroScan) were obtained from medical records. FibroScan values were based upon previous noninvasive assessment captured prior to treatment, if applicable. Mean FibroScan values were determined by averaging the values of all participants within each arm and expressed in kPa.

Measure: Mean FibroScan Values by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Secondary Outcomes

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver inflammation grade (Grade A0, Grade A1, Grade A2, or Grade A3) were obtained from medical records. Liver inflammation grade was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by METAVIR Liver Inflammation Grade and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver inflammation grade (Grade A0, Grade A1, Grade A2, or Grade A3) were obtained from medical records. Liver inflammation grade was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs12979860 by METAVIR Liver Inflammation Grade and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver inflammation grade (Grade A0, Grade A1, Grade A2, or Grade A3) were obtained from medical records. Liver inflammation grade was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by METAVIR Liver Inflammation Grade and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and liver inflammation grade (Grade A0, Grade A1, Grade A2, or Grade A3) were obtained from medical records. Liver inflammation grade was based upon previous biopsy using the METAVIR scoring system and captured prior to treatment, if applicable.

Measure: Number of Participants With IL28B Genotype rs8099917 by METAVIR Liver Inflammation Grade and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including gender, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs12979860 by Gender: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including gender, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs12979860 by Gender: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including gender, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs8099917 by Gender: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including gender, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs8099917 by Gender: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including self-reported ethnic origin, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs12979860 by Ethnic Origin: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including self-reported ethnic origin, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs12979860 by Ethnic Origin: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including self-reported ethnic origin, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs8099917 by Ethnic Origin: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including self-reported ethnic origin, were obtained from medical records and/or participant interview at the Study Visit.

Measure: Number of Participants With IL28B Genotype rs8099917 by Ethnic Origin: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Mean body weight was calculated by averaging the values of all participants within each arm and expressed in kilograms (kg).

Measure: Mean Body Weight by IL28B Genotype rs12979860: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Mean body weight was calculated by averaging the values of all participants within each arm and expressed in kg.

Measure: Mean Body Weight by IL28B Genotype rs12979860: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Mean body weight was calculated by averaging the values of all participants within each arm and expressed in kg.

Measure: Mean Body Weight by IL28B Genotype rs8099917: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Mean body weight was calculated by averaging the values of all participants within each arm and expressed in kg.

Measure: Mean Body Weight by IL28B Genotype rs8099917: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including height and pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Each participant's BMI was calculated as weight divided by height-squared, expressed in kilograms per meter-squared (kg/m^2), and mean BMI was calculated by averaging the values of all participants within each arm.

Measure: Mean Body Mass Index (BMI) by IL28B Genotype rs12979860: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including height and pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Each participant's BMI was calculated as weight divided by height-squared, expressed in kg/m^2, and mean BMI was calculated by averaging the values of all participants within each arm.

Measure: BMI by IL28B Genotype rs12979860: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including height and pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Each participant's BMI was calculated as weight divided by height-squared, expressed in kg/m^2, and mean BMI was calculated by averaging the values of all participants within each arm.

Measure: BMI by IL28B Genotype rs8099917: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Demographic characteristics, including height and pre-treatment body weight, were obtained from medical records and/or participant interview at the Study Visit. Each participant's BMI was calculated as weight divided by height-squared, expressed in kg/m^2, and mean BMI was calculated by averaging the values of all participants within each arm.

Measure: BMI by IL28B Genotype rs8099917: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA level was obtained from medical records. Mean HCV RNA level was calculated by averaging the values of all participants within each arm and expressed in log10 international units per milliliter (log10 IU/mL).

Measure: Mean HCV RNA Level by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA level was obtained from medical records. Mean HCV RNA level was calculated by averaging the values of all participants within each arm and expressed in log10 IU/mL.

Measure: Mean HCV RNA Level by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA level was obtained from medical records. Mean HCV RNA level was calculated by averaging the values of all participants within each arm and expressed in log10 IU/mL.

Measure: Mean HCV RNA Level by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA level was obtained from medical records. Mean HCV RNA level was calculated by averaging the values of all participants within each arm and expressed in log10 IU/mL.

Measure: Mean HCV RNA Level by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. ALT level was obtained from medical records captured prior to treatment, if applicable. Each participant's ALT ratio was calculated as ALT level divided by the upper limit of normal (55 international units per liter [IU/L] for males and 30 IU/L for females). Mean ALT ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean Alanine Aminotransferase (ALT) Ratio by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. ALT level was obtained from medical records captured prior to treatment, if applicable. Each participant's ALT ratio was calculated as ALT level divided by the upper limit of normal (55 IU/L for males and 30 IU/L for females). Mean ALT ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean ALT Ratio by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. ALT level was obtained from medical records captured prior to treatment, if applicable. Each participant's ALT ratio was calculated as ALT level divided by the upper limit of normal (55 IU/L for males and 30 IU/L for females). Mean ALT ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean ALT Ratio by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. ALT level was obtained from medical records captured prior to treatment, if applicable. Each participant's ALT ratio was calculated as ALT level divided by the upper limit of normal (55 IU/L for males and 30 IU/L for females). Mean ALT ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean ALT Ratio by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. AST level was obtained from medical records captured prior to treatment, if applicable. Each participant's AST ratio was calculated as AST level divided by the upper limit of normal (40 IU/L for males and 25 IU/L for females). Mean AST ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean Aspartate Aminotransferase (AST) Ratio by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. AST level was obtained from medical records captured prior to treatment, if applicable. Each participant's AST ratio was calculated as AST level divided by the upper limit of normal (40 IU/L for males and 25 IU/L for females). Mean AST ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean AST Ratio by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. AST level was obtained from medical records captured prior to treatment, if applicable. Each participant's AST ratio was calculated as AST level divided by the upper limit of normal (40 IU/L for males and 25 IU/L for females). Mean AST ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean AST Ratio by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. AST level was obtained from medical records captured prior to treatment, if applicable. Each participant's AST ratio was calculated as AST level divided by the upper limit of normal (40 IU/L for males and 25 IU/L for females). Mean AST ratio was calculated by averaging the values of all participants within each arm.

Measure: Mean AST Ratio by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Platelet count was obtained from medical records captured prior to treatment, if applicable. Mean platelet count was calculated by averaging the values of all participants within each arm and expressed in 10^9 cells per liter (10^9 cells/L).

Measure: Mean Platelet Count by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Platelet count was obtained from medical records captured prior to treatment, if applicable. Mean platelet count was calculated by averaging the values of all participants within each arm and expressed in 10^9 cells/L.

Measure: Mean Platelet Count by IL28B Genotype rs12979860 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Platelet count was obtained from medical records captured prior to treatment, if applicable. Mean platelet count was calculated by averaging the values of all participants within each arm and expressed in 10^9 cells/L.

Measure: Mean Platelet Count by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. Platelet count was obtained from medical records captured prior to treatment, if applicable. Mean platelet count was calculated by averaging the values of all participants within each arm and expressed in 10^9 cells/L.

Measure: Mean Platelet Count by IL28B Genotype rs8099917 and HCV RNA Genotype: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Region: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Region: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Region: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Region: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Country: Treatment-Naive (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Country: Treatment-Naive (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Country: Treatment-Experienced (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs12979860 by HCV RNA Genotype and Country: Treatment-Experienced (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Country: Treatment-Naive (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Country: Treatment-Naive (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Country: Treatment-Experienced (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With IL28B Genotype rs8099917 by HCV RNA Genotype and Country: Treatment-Experienced (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype.

Measure: Number of Participants With IL28B Genotype rs12979860 by IL28B Genotype rs8099917 Category: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype.

Measure: Number of Participants With IL28B Genotype rs12979860 by IL28B Genotype rs8099917 Category: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype.

Measure: Number of Participants With Inosine Triphosphatase (ITPA) Genotype rs7270101 by ITPA Genotype rs1127354 Category: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype.

Measure: Number of Participants With ITPA Genotype rs7270101 by ITPA Genotype rs1127354 Category: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Region: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Region: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Region: Treatment-Naive

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and geographic region of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Region: Treatment-Experienced

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Naive (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Naive (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Experienced (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs1127354 by HCV RNA Genotype and Country: Treatment-Experienced (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Country: Treatment-Naive (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Country: Treatment-Naive (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Country: Treatment-Experienced (Table 1 of 2 [G1, G2, G3])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records, and country of study site was documented during intake/enrollment.

Measure: Number of Participants With ITPA Genotype rs7270101 by HCV RNA Genotype and Country: Treatment-Experienced (Table 2 of 2 [G4, Other, Total])

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Virological response types within the first 12 weeks of treatment included rapid virological response (RVR), complete early virological response (cEVR), and partial early virological response (pEVR). RVR was defined as an undetectable HCV RNA level within the first 4 weeks, cEVR as an undetectable level within the first 12 weeks, and pEVR as a 2-log drop from Baseline to 12 weeks. Undetectable viral loads include those below the lower limit of detection (LLOD) for the assay performed, which may vary from site to site. Response categories were mutually exclusive, meaning participants could only achieve cEVR/pEVR in the absence of RVR. Participants achieving neither RVR nor cEVR/pEVR were recorded as 'none of the above.'

Measure: Number of Participants With IL28B Genotype rs12979860 by Type of Virological Response in the First 12 Weeks of Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Virological response types within the first 12 weeks of treatment included RVR, cEVR, and pEVR. RVR was defined as an undetectable HCV RNA level within the first 4 weeks, cEVR as an undetectable level within the first 12 weeks, and pEVR as a 2-log drop from Baseline to 12 weeks. Undetectable viral loads include those below the LLOD for the assay performed, which may vary from site to site. Response categories were mutually exclusive, meaning participants could only achieve cEVR/pEVR in the absence of RVR. Participants achieving neither RVR nor cEVR/pEVR were recorded as 'none of the above.'

Measure: Number of Participants With IL28B Genotype rs8099917 by Type of Virological Response in the First 12 Weeks of Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Virological response types at the end of treatment included undetectable and detectable HCV RNA level. Undetectable viral loads include those below the LLOD for the assay performed, which may vary from site to site.

Measure: Number of Participants With IL28B Genotype rs12979860 by Type of Virological Response at End of Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Virological response types at the end of treatment included undetectable and detectable HCV RNA level. Undetectable viral loads include those below the LLOD for the assay performed, which may vary from site to site.

Measure: Number of Participants With IL28B Genotype rs8099917 by Type of Virological Response at End of Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Overall virological response types included sustained virological response (SVR), relapse, and breakthrough. SVR was defined as undetectable HCV RNA level at 24 weeks post-treatment, relapse as an undetectable level at end of treatment with a detectable level at the last post-treatment measurement, and breakthrough as an undetectable level at 1 or more treatment measurements with a detectable level at end of treatment. Undetectable viral loads include those below the LLOD for the assay performed, which may vary from site to site. Response categories were mutually exclusive. Participants with detectable HCV RNA level at 12 or more treatment measurements and who did not meet SVR criteria were considered nonresponders, and those with insufficient treatment response data were recorded as 'none of the above.'

Measure: Number of Participants With IL28B Genotype rs12979860 by Overall Virological Response Type and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine IL28B genotype. HCV RNA genotype and virological response to prior treatment were obtained from medical records. Overall virological response types included SVR, relapse, and breakthrough. SVR was defined as undetectable HCV RNA level at 24 weeks post-treatment, relapse as an undetectable level at end of treatment with a detectable level at the last post-treatment measurement, and breakthrough as an undetectable level at 1 or more treatment measurements with a detectable level at end of treatment. Undetectable viral loads include those below the LLOD for the assay performed, which may vary from site to site. Response categories were mutually exclusive. Participants with detectable HCV RNA level at 12 or more treatment measurements and who did not meet SVR criteria were considered nonresponders, and those with insufficient treatment response data were recorded as 'none of the above.'

Measure: Number of Participants With IL28B Genotype rs8099917 by Overall Virological Response Type and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype and hematology data were obtained from medical records. Participants with a history of a hemoglobin level less than 10 grams per deciliter (g/dL) or a drop of more than 3 g/dL at any time during prior treatment for CHC were recorded as 'yes' for this finding.

Measure: Number of Participants With ITPA Genotype rs1127354 by Incidence of Hemoglobin Drop During Prior Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype and hematology data were obtained from medical records. Participants with a history of a hemoglobin level less than 10 g/dL or a drop of more than 3 g/dL at any time during prior treatment for CHC were recorded as 'yes' for this finding.

Measure: Number of Participants With ITPA Genotype rs7270101 by Incidence of Hemoglobin Drop During Prior Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records. Past medication use was obtained from medical records and/or participant interview at the Study Visit. Participants with a history of erythropoietin use during prior treatment for CHC were recorded as 'yes' for this finding.

Measure: Number of Participants With ITPA Genotype rs1127354 by Erythropoietin Use During Prior Treatment and HCV RNA Genotype

Time: Study Visit 1

Description: Participants underwent blood sampling at the Study Visit to determine ITPA genotype. HCV RNA genotype was obtained from medical records. Past medication use was obtained from medical records and/or participant interview at the Study Visit. Participants with a history of erythropoietin use during prior treatment for CHC were recorded as 'yes' for this finding.

Measure: Number of Participants With ITPA Genotype rs7270101 by Erythropoietin Use During Prior Treatment and HCV RNA Genotype

Time: Study Visit 1

2 Analysis of Host Genetic Factors in the Occurrence of Anemia and on the Virological Response to a Peg-interferon/Ribavirin Therapy in HIV-HCV Co-infected Patients

The treatment of HCV (hepatitis C virus) infection has made significant progress over the past decade with the therapy combining pegylated interferon (Peg-IFN) to ribavirin (RBV). The cure of HCV infection which consists to obtain a sustained virological response (SVR) (undetectable HCV RNA 24 weeks after end of treatment) is reached in more than 50% of patients infected with HCV. However, this rate is much lower, around 30 to 40% in HIV-HCV co-infected patients and sometimes can be less than 20% for patients infected with HCV genotype 1. Haemolytic anemia is a dose-limiting adverse effect which occurs frequently under RBV therapy. RBV-induced anemia represents the main cause of treatment discontinuation or dose reduction of RBV, thus limiting the chances of achieving a SVR. RBV has a large inter-individual pharmacokinetic variability and a relationship between the occurrence of anemia and RBV concentration was clearly demonstrated. However, other factors, including genetic factors, could be predictive of hematotoxicity and/or a better efficiency. In particular, IL-28B polymorphism analysis, in patients infected with HCV genotype 1, before starting antiviral therapy could predict the response to treatment (positive predictive value). The genetic polymorphism of inosine triphosphate pyrophosphatase (ITPA) is also strongly associated to a protective effect towards the RBV-induced-anemia. But most of these data are issued from studies performed in a Japanese HCV mono-infected population treated with Peg-IFN-RBV therapy for which there is no other causal variant that the rs1127354. Only few studies are reported in the literature in caucasian HIV-HCV co-infected patients. Moreover, data on RBV plasma exposure are very scarce in all these studies showing an impact of the ITPA polymorphism on the occurrence of anemia. In addition, others polymorphisms of SCL29A1/A2 and SCL28A2/A3 coding for RBV transporters, ENT (equilibrative nucleoside transporter) et CNT (concentrative nucleoside transporter) would be associated to either rapid virological response or anemia in HCV infected patients treated by Peg-IFN plus RBV. No study considering both polymorphisms of ITPA, IL-28B, SCL29A1/A2 and SCL28A2/A3 genes and RBV plasma exposure data has so far been conducted in HIV-HCV co-infected patients. Thus, it would be interesting in a first time to assess the impact of the ITPA polymorphism on both the RBV plasma exposure and the protective effect towards RBV-induced anemia in HIV-HCV co-infected patients. This study could be helpful to the literature for possible further RBV dose adjustments according to ITPA activity. Then, it would be relevant to further complete these data by assessing other genetic polymorphisms as IL-28B, SCL29A1/A2 and SCL28A2/A3 and thus evaluate the overall pharmacogenetic relationships towards RBV-induced anaemia and/or virological response to a Peg-IFN/RBV therapy.

NCT01964742 HIV-HCV Co-infected Patients Genetic: blood samples
MeSH:Anemia
HPO:Anemia

But most of these data are issued from studies performed in a Japanese HCV mono-infected population treated with Peg-IFN-RBV therapy for which there is no other causal variant that the rs1127354.

Primary Outcomes

Measure: blood samples

Time: 12 months


HPO Nodes


HP:0001903: Anemia
Genes 730
SRD5A3 NDUFS7 CTC1 KLF1 TBXAS1 SRP54 IL2RG TET2 RPS27 AMMECR1 SLC25A38 MLX CD40LG ERCC6L2 RPS24 YARS2 CFI DCLRE1C SCARB2 ALX4 UBE2T MPL TSR2 EXT2 MUC1 XRCC4 VPS33A FAM111A EFL1 WT1 FASLG TSR2 PNPO RPS29 SDHC BCL10 LAMC2 OCRL CHD7 TINF2 FOXP3 NT5C3A ENG PRKCD CR2 PLEKHM1 CASK IRAK1 DAXX MALT1 PKLR GBA TINF2 PSMB8 ZBTB20 SLC4A1 WFS1 NHEJ1 TACO1 RPL35A TCIRG1 FLI1 BMPR1A TNFSF12 CFI BMPR1A SMAD4 LAT ACVR1 COX10 ALAS2 MTRR FOXP1 LYRM7 DHFR TERT DNAJC21 RPL15 HBA1 CTSK KLF1 PGK1 HBB HBB CLCNKB RPS10 MTHFD1 FASTKD2 G6PC3 AASS BRCA1 ANK1 UROS EPB42 TEK FASLG SBDS NHP2 MYSM1 CD81 TNFSF12 RHAG CFH SMAD4 HBB LRBA NDUFS3 STEAP3 CDCA7 DNAJC21 CP DCLRE1C HMGCL RMRP XRCC2 RAG1 PGK1 F8 HELLPAR NFKB2 RECQL4 NPHP4 EPO RHAG COX6B1 REN COL7A1 SPTB RPL35 CD46 PALB2 RAG2 NDUFB8 SRD5A3 FTCD FCGR2A COX8A HPRT1 PTF1A WAS TBCE SPTA1 KDM6A FANCE ICOS SLC11A2 CLPX NFKB1 FCGR2B CA2 KIF23 HLA-DRB1 FAS ALAD RPL26 RAD51 EWSR1 MMAA SLC4A1 CAT NDUFS2 STAT3 SLC2A1 ADA2 EPB41 C1R APOA1 GBA ATRX FANCD2 TET2 UMPS SLCO2A1 ATP11C ACVRL1 KRT14 RTEL1 RPL5 ITGB3 GLA TMEM67 FANCC HBA2 DNMT3B HBA1 LAMA3 TNFSF11 BIRC3 SDHA RPS14 IFNG HAVCR2 IRF2BP2 RPS19 RPL35A PEPD TCIRG1 SPTA1 ACVRL1 GLA PIGA FANCL YARS2 STK11 NDUFA12 GPI SNX10 ECHS1 THRA RPL27 APC NDUFV2 ACD BCOR MTRR GBA ALAS2 ERCC4 PIEZO1 RPL26 HBG1 MVK AK1 STAT1 MTFMT CFB SBDS WAS NFKB1 AK2 IFT140 PFKM MMACHC RPS24 RNF113A HMGCL UMPS SLC4A1 HBB GATA1 BRCA1 TRNS1 PARN ZBTB24 STIM1 RFWD3 KIF15 PCCA HBA1 NDUFS2 ITGB4 PSMB4 DNASE1 HBA2 ABCD3 ALDOA RPS28 TET2 COL7A1 ACTN4 SMPD1 RPS17 ABCB7 ABCA1 ZBTB16 NUMA1 TINF2 DKC1 BMPR1A LIG4 RPS7 AGGF1 NDUFAF6 RAG1 UROS KCNN4 IREB2 NPHP1 RPL15 SLC2A1 FMO3 RPS27 RPS26 KIT ALPL HYOU1 STAT5B HPGD GBA C1QA TGFB1 SLX4 RAG2 TERC BMPR1A MMUT KCNN4 HMOX1 FANCB LAMA3 RPS28 SLC19A3 FANCA MPL STIM1 ELANE FANCC CD46 PET100 PGM3 SLC4A1 MAD2L2 ERCC2 EPHB4 KRAS FOXP3 RPS7 MMUT TGFB1 CD19 HBG2 KIT SARS2 SBDS WRAP53 GCLC COX14 EFL1 COX4I2 ORAI1 STING1 NABP1 CRIPT PUS1 CA2 FARS2 ERCC3 SLC19A2 WIPF1 SLC25A13 TERC DKC1 NSUN2 TRNN PHKG2 ETV6 NBN NDUFV1 STAT3 SP110 UBR1 PUS1 PRF1 RARA PHGDH IL2RB FERMT3 ATP7B RPL27 PET100 LCAT LAMB3 C3 COL7A1 HLA-B NLRC4 ENG CD59 COX15 NDUFA10 TERT TF TNFAIP3 LPIN2 MECOM PIGT DNAJC19 NDUFS1 PRF1 DNAJC19 GALT ITK PTEN PRKCD LIPA ABCD4 IDH1 STK11 RPL11 ATRX LPIN2 GATA1 NPM1 TPP2 SAMD9L ALAS2 KIF1B CD3G NDUFAF3 EPB41 ABCG8 SLC12A3 HBB POLG PRDX1 WFS1 NRAS CISD2 GLRX5 PRKAR1A LAMC2 COA8 OSTM1 RPS29 ATRX SCO2 NLRP3 SLC46A1 DGKE FIP1L1 MYSM1 UBE2T CPOX SLC29A3 LAMB3 TRNT1 TACO1 COL7A1 HBD SPTB NDUFA9 MTR PML GSS SMAD4 TRNT1 TBL1XR1 HBA1 SRP54 SHPK RPL18 SMARCAL1 SPTA1 ISCU DNM1L ELANE MARS1 IDH2 RPS26 GNA14 CAD IL7R COX20 GREM1 FANCE MMP1 HBA1 NDUFAF2 FANCL RFX5 NPHP1 ATP7B ATRX HBB HSPA9 CLCN7 JAK2 TPI1 MPIG6B SLC40A1 PSAP FOXRED1 LIG4 PHGDH SURF1 TERC FANCG SF3B1 KMT2D NOD2 BRIP1 SLC19A2 ADAMTS13 HBB RPL5 GATA1 NBN FANCF PDGFRA PSMB9 ALG8 FECH CP GYPC TALDO1 ABCB7 FAS PTH1R CLCN7 PCCB FAM111A HAMP CDAN1 PGM3 STIM1 DBH LMBRD1 ADA HBG2 GTF2E2 SMAD4 RPS17 STAT1 PARN RPS14 RFXANK RHAG TNFRSF13C TNFRSF13B STX11 CALR UROD ACAD8 NLRP3 PNP USB1 SEC23B RPL31 CIITA HBG1 RFXAP ADA LARS1 RAG2 RMRP COL4A1 FDX2 COQ2 PFKM COG1 CLCN7 BTK FANCA AMN NDUFA13 TF SEC61A1 NDUFS4 F2 SLC4A1 STEAP3 CASP10 ATRX GTF2H5 FANCM TARS1 KCNE1 RTEL1 SLC46A1 TNFSF11 ABCA1 CD55 PIEZO1 RBM8A ITGA2B CTLA4 PNPO SLC7A7 KCNQ1 RPS15A HELLS PLEC NDUFAF5 RPS10 SDHB ELMO2 HPRT1 HBB ANK1 MPLKIP ITGB4 RAG1 SAMD9L DDX41 IGH RAG1 SPTA1 IRX5 FANCD2 SDHA GDF2 COA8 GBA HBB TFRC RASGRP1 CASP10 TCIRG1 ADA2 NHLRC2 CASR COL7A1 PDHA1 BRCA2 PNP NPHP4 TNFRSF11A STAT4 RMRP PSMB8 RAD51C PCNT PLEC HBA2 HLA-B SH2D1A EPB42 SMARCD2 LARS2 ZAP70 RPL11 C15ORF41 SPTA1 IL2RA TCN2 PTPN22 SMARCAL1 TYMP MYD88 TFR2 GPX1 TREX1 SAMD9 BTNL2 PACS2 NDUFA4 SLX4 OPA1 GCLC NPM1 GATA1 COG6 IKZF1 PHKA2 ADAR SLC7A7 DKC1 NLRP1 MS4A1 VPS45 CFHR1 SCO1 RPS19 NDUFA2 PRKCD TMPRSS6 PLEKHM1 TP53 AIRE BPGM GATA1 FANCG RPS15A FANCI LYST TET2 TNFRSF4 CFHR3 MMP1 HBB SLC4A1 COL17A1 HBA2 LYST SNX10 HBB RRM2B CTLA4 PKLR IL12B PHF21A FERMT1 FANCB NDUFS8 SFXN4 HBB-LCR TERT GATA1 PRKACG XIAP SPP1 CUBN SPTB GSS CTC1 CCND1 TTC7A TTC7A NOP10 FARSB LIPT1 ABCB6 UNC13D IFNGR1 TRNW MMAB GATA1 PLA2G4A FAS HBB ANK1 CFH CLCN7 VPS33A SURF1 CBLIF TALDO1 AGXT HBA2 MMADHC HK1 GP1BA MAD2L2 ENG FECH G6PD TBXAS1 THBD TERT ERBB3
Protein Mutations 4
C282Y C677T H63D V617F