SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A1166C

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 4 clinical trials

Clinical Trials


1 A Randomized, Open Label, Cross-over Comparative Study of Irbesartan/Hydrochlorothiazide and Irbesartan in the Treatment of Mild to Moderate Hypertension

Primary: 1. To compare the change in forearm vascular resistance following a 12-week regimen of irbesartan/hydrochlorothiazide versus irbesartan 2. To assess changes of serum proinflammatory cytokine, markers of cardiovascular risks, oxidative stress and circulating adhesion molecule including thiobarbiturate acid reactive substances (TBARS), C-reactive protein (CRP), interleukin 6 (IL-6), and vascular cell adhesion molecule 1 (VCAM-1). Secondary: 1. To compare the reduction in office blood pressure following a 12-week regimen of irbesartan/hydrochlorothiazide versus irbesartan 2. To compare the response rate (defined as office Systolic blood pressure(SBP)/diastolic blood pressure (DBP) reduce more than 10mmHg from baseline), and BP controlled rate (defined as SBP<140 mmHg and /or DBP<90 mmHg) 3. To ascertain the safety and tolerability of irbesartan / hydrochlorothiazide versus irbesartan when administered once daily 4. To determine whether angiotensin II type 1 (AT-1) receptor gene polymorphisms (including A1166C gene with about 4% of the minor allele frequency in Chinese population and other single nucleotide polymorphisms with a higher frequency of about 10% of minor allele) is related to reduction of BP

NCT00443612
Conditions
  1. Hypertension
Interventions
  1. Drug: Irbesartan/Hydrochlorothiazide
  2. Drug: Irbesartan
MeSH:Hypertension
HPO:Hypertension

To compare the reduction in office blood pressure following a 12-week regimen of irbesartan/hydrochlorothiazide versus irbesartan 2. To compare the response rate (defined as office Systolic blood pressure(SBP)/diastolic blood pressure (DBP) reduce more than 10mmHg from baseline), and BP controlled rate (defined as SBP<140 mmHg and /or DBP<90 mmHg) 3. To ascertain the safety and tolerability of irbesartan / hydrochlorothiazide versus irbesartan when administered once daily 4. To determine whether angiotensin II type 1 (AT-1) receptor gene polymorphisms (including A1166C gene with about 4% of the minor allele frequency in Chinese population and other single nucleotide polymorphisms with a higher frequency of about 10% of minor allele) is related to reduction of BP Forearm vascular resistance. --- A1166C ---

Primary Outcomes

Measure: Forearm vascular resistance

Time: At baseline and end of study

Measure: Changes of serum TBARS, CRP, IL-6, and VCAM-1

Time: Throughout the study period

Measure: Office BP measurement of seated SBP and DBP

Time: At baseline and after 12-week treatment

Measure: Adverse events

Time: Throughout the study period

Secondary Outcomes

Measure: Office BP measurement of seated SBP and DBP

Time: At baseline and after 12-week treatment

2 Investigating the Involvement of ACE and Angiotensinogen Genes' Polymorphism Along With Other Thrombophilic Genotypes in Severe Forms of COVID-19 With/Without Thrombotic Events

An estimated 22% of the global population is at an increased risk of a severe form of COVID-19, while one in four coronavirus patients admitted to intensive care unit will develop a pulmonary embolism. A major public health question remains to be investigated: why COVID-19 is mild for some, critically severe for others and why only a percentage of COVID-19 patients develop thrombosis, despite the disease's proven hypercoagulable state? Patients' intrinsic characteristics might be responsible for the deep variety of disease forms. Our study aims to assess the validity of the hypothesis according to which underlining genetic variations might be responsible for different degrees of severity and thrombotic events risks in the novel coronavirus disease. Moreover, we suspect that prothrombotic genotypes occuring in the genes that encode angiotensin-converting enzyme (ACE-DEL/INS) and angiotensinogen (AGT M235T) are involved in the unpredictable evolution of COVID-19, both in terms of severity and thrombotic events, due to the strong interactions of SARS-CoV-2 with the renin-angiotensin-aldosterone system (RAAS). Therefore, we also aim to assess the validity of the theory according to which there is a pre-existing atypical modulation of RAAS in COVID-19 patients that develop severe forms and/or thrombosis. Our hypothesis is based on various observations. Firstly, there is a substantial similarity with a reasonably related condition such as sepsis, for which there is a validated theory stating that thrombophilic mutations affect patients' clinical response. Secondly, racial and ethnic genetic differences are responsible for significant dissimilar thrombotic risks among various nations. Thirdly, an increase in stroke incidence has been reported in young patients with COVID-19, without essential thrombosis risk factors, favoring the idea that a genetic predisposition could contribute to increase the thrombotic and thromboembolic risk. Fourthly, the plasminogen activator inhibitor (PAI)-1 4G/5G inherited mutation was found to be responsible for a thrombotic state causing post-SARS osteonecrosis.

NCT04519398
Conditions
  1. Covid19
  2. Corona Virus Infection
  3. Thrombosis
  4. ARDS
  5. Thrombophilia
  6. Thromboses, Intracranial
  7. Thromboses, Deep Vein
  8. RAAS
Interventions
  1. Genetic: Complete thrombophilic profile testing by multiplex PCR
MeSH:Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia
HPO:Deep venous thrombosis Hypercoagulability Venous thrombosis

Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Covid19 Corona Virus Infection Thrombosis ARDS Thrombophilia Thromboses, Intracranial Thromboses, Deep Vein RAAS Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia The study's protocol will cover the following steps: • Collected data from COVID-19 patients at admission will include: - Descriptive general demographic data - Previous pathologies and thrombosis risk factors - Routine biological data (the blood routinely collected will also be used for SARS-Cov-2 specific RT-PCR exam) Complete thrombophilic profile testing by multiplex PCR and reverse hybridization of DNA to assess the presence of prothrombotic genotypes: - Factor V Leiden - Factor V 4070 A G (Hr2) - Factor II G20210A - Methylenetetrahydrofolate reductase (MTHFR) C677T - MTHFR A1298C - Cystathionine β-synthase (CBS) 844ins68 - PAI-1 4G/5G - Glycoprotein IIIa T1565C (HPA-1a/b) - ACE-DEL/INS - Apolipoprotein E (ApoE) - AGT M235T - Angiotensin II type 1 receptor (ATR-1) A1166C - Fibrinogen - 455 G A - Factor XIII Val34Leu SpO2, respiratory rate, PaO2/FiO2 RAAS components - Imagistic procedures (chest X-ray or CT) - All patients with a positive SARS-CoV-2 PCR test will be included - Patients will be divided into three groups depending on disease severity and the presence of thrombotic state: - 1st group includes COVID-19 patients with proved - venous thrombosis (deep vein thrombosis, pulmonary embolism or venous thrombosis occurring in more atypical places such as in the veins of the brain, liver, kidney, mesenteric vein and the veins of the arms) - or arterial thrombosis (heart attacks, strokes) - 2nd group encompasses asymptomatic patients and those with mild or moderate disease, according to current guidelines, without thrombosis: no symptoms or evidence of lower respiratory disease by clinical assessment or imaging and a SpO2 ≥ 94% - 3rd group includes severe disease, according to current guidelines, without thrombosis: respiratory frequency > 30 breaths per minute, SpO2 < 94%, PaO2/FiO2 < 300 mmHg, or lung infiltrates >50% - Statistical methods will be employed to check for significant differences between prothrombotic mutations frequency and RAAS components levels for the three groups --- G20210A --- --- C677T --- --- A1298C --- --- T1565C --- --- M235T --- --- A1166C ---

Primary Outcomes

Description: The difference of prothrombotic genotypes frequency between the three groups

Measure: Number of patients with thrombophilic profile alterations

Time: One year

Secondary Outcomes

Description: The differences of RAAS components levels between the three groups

Measure: Number of patients with RAAS components alterations

Time: One year

3 Optimal Dose of Irbesartan for Renoprotection in Type 2 Diabetic Patients With Persistent Microalbuminuria

Aim: To evaluate the renoprotective effect as reflected by short-term changes in albuminuria of ultra high doses of irbesartan in Type 2 diabetic patients with microalbuminuria Design: A double-masked randomized cross-over trial including 60 hypertensive Type 2 diabetic patients with microalbuminuria on ongoing antihypertensive medication. At inclusion, previous antihypertensive treatment will be discontinued and replaced with bendroflumethiazide 5 mg o.d. for the entire study. Following two months wash-out (baseline), patients will be treated randomly with irbesartan 300, 600 and 900 mg o.d., each dose for two months. End-points evaluated at the end of each study period include urinary albumin excretion rate (UAE, mean of three 24-hrs collections), 24-hrs blood pressure (ABP); and GFR (51Cr-EDTA).

NCT00320879
Conditions
  1. Type 2 Diabetes
  2. Microalbuminuria
Interventions
  1. Drug: irbesartan
MeSH:Albuminuria
HPO:Albuminuria

Initially we will evaluate the influence of the ACE/ID- , Angiotensin II type I receptor (A1166C) - and the angiotensinogen (M235T) polymorphisms. --- A1166C ---

Primary Outcomes

Measure: urinary albumin excretion rate

Secondary Outcomes

Measure: ambulatory blood pressure

Measure: glomerular filtration rate

Measure: serum potassium

Measure: serum creatinine

Measure: lipids

Measure: renin

Measure: aldosterone

Measure: NT-proBNP

Measure: markers of endothelial function

Measure: markers of inflammation

Measure: genotypes with possible implications for the risk of cardiovascular disease

4 Observational Study of the Polymorphisms of the Renin-angiotensin-aldosterone System and Their Relation to Resistant Systemic Arterial Hypertension and Adverse Cardiovascular Events

Renin-angiotensin-aldosterone system (RAAS) polymorphisms influence 24h arterial pressure fluctuation. Resistant systemic arterial hypertension (RSAH) has an increased risk of end organ damage and unfavourable prognosis, whereas pseudo-RSAH usually respond favourably to drug therapy. To prospectively investigate, in subjects with RSAH in a tropical South American city: 1) Adverse cardiovascular events defined as fatal and non-fatal stroke or acute myocardial infarction (AMI); and 2) the association of RAAS polymorphisms and adverse cardiovascular events in this population. Study population: 212 hypertensives recruited from primary care assistance (time since first diagnosis of hypertension: 16.5±8.1 years) and without appropriate pressure control, between 2001 and 2006, corresponding to 0.48% of all hypertensives under care (18 new cases/year), 57±10 years old, 66% females. Under drug treatment schedule: three or more drugs including a diuretic. Ninety two randomly selected hypertensives basis had renin-angiotensin-aldosterone system genetic profile determined. Genetic assessment was carried out using a polymerase chain reaction assay amplification technique. The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C).

NCT01173029
Conditions
  1. Systemic Arterial Hypertension
  2. Hypertension Resistant to Conventional Therapy
  3. Myocardial Infarction
  4. Stroke
Interventions
  1. Drug: Anti-hypertensive drug treatment
MeSH:Hypertension Myocardial Infarction Coronary Vasospasm Infarction
HPO:Hypertension Myocardial infarction

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A --- --- M235T --- --- A1166C ---

Primary Outcomes

Description: Evidence of clinically definite stroke (focal neurological deficits persisting for more than 24 hours) confirmed or not by non-investigational computerized tomography. Death was considered to be related to the event if occurring up to 30 days after the acute event. Assessment twice an year by active and direct contact to patients or relatives and review of medical records.

Measure: Strokes, Either Fatal or Nonfatal

Time: up to 10 years

Secondary Outcomes

Description: Evidence of clinically definite stroke (focal neurological deficits persisting for more than 24 hours) confirmed or not by non-investigational computerized tomography. Evidence of clinically definite acute myocardial infarction (prolonged > 20min chest pain, not relieved by sublingual nitrate, ST-T segment deviation on 12-lead surface ECG, elevation of plasma troponin >0.2 ng/dL 6h following chest pain episode). Death was considered to be related to the event if occurring up to 30 days after the acute event. Assessment twice an year by active and direct contact to patients or relatives and review of medical records.

Measure: Composite of Acute Myocardial Infarctions and/or Strokes Either Fatal or Nonfatal

Time: up to 10 years


HPO Nodes


HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D ABCG5 RET UFD1 TREX1 NOTCH2 ABCC6 G6PC1 ARMC5 SCNN1B CCDC28B GTF2I JAK2 KLHL3 BBS5 MYH7 ERCC6 APOA1 TRNV TMEM127 TGFBR1 GNAS FBN1 ARL6 GCH1 COX2 MDH2 NFIX OFD1 AIP COL4A3 WDR35 ENG MAX CFHR3 TMEM70 NSMCE2 LARS2 LEMD3 ND5 CYP21A2 NR3C1 DZIP1L BNC2 VHL BICC1 ERCC6 PRKACA MC4R PRKACA ADA2 CYP11B1 INF2 HLA-DRB1 MYLK TGFB3 MTRR MYMK POR COL4A4 JAK2 SDHD SCN2B CEP290 ITGA8 FH DYRK1B TRPC6 HLA-B PRKAR1A MLXIPL BBS12 MDM2 MPL TMEM237 VHL BBS2 PDE3A NR3C2 KRT8 GPC3 PRKAR1A BAZ1B ERCC4 VHL TGFBR3 CDKN1A COMT WT1 SLC25A11 RET COX3 AIP ABCG8 HSD11B2 GANAB TMEM67 CD46 ADAMTSL4 TNFRSF11B ANGPTL6 INVS TRNL1