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Report for Clinical Trial NCT02615015

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Single Nucleotide Polymorphisms in the Deoxyribonuclease 1 Gene Impair Its Activity and Are Increased in a ST-elevation Acute Coronary Syndrome Patient Cohort Compared to Healthy Controls

Neutrophil extracellular traps (NETs) and deoxyribonuclease (DNase) activity determine outcome in ST elevation acute coronary syndrome (STE-ACS). DNase single nucleotide polymorphisms (SNPs) were increased in a japanese cohort. In the present study, the investigators seek to measure DNase SNPs frequency in a caucasian STE-ACS cohort compared to healthy controls (each n=400). The investigators will compute polymorphisms, DNase activity, NET surrogate markers and clinical variables in regression models.

NCT02615015 ST Elevation Myocardial Infarction
MeSH: Myocardial Infarction ST Elevation Myocardial Infarction Infarction
HPO: Myocardial infarction

1 Interventions

Name: Blood draw

Type: Other

Healthy proband cohort ST elevation myocardial in ST elevation myocardial infarction patient cohort


Primary Outcomes

Measure: Frequency of SNPs of the DNase 1 and DNase gamma genes in the STE-ACS patient population compared to healthy controls

Time: through study completion, an average of 2 years

Secondary Outcomes

Measure: Correlation of SNPs of the DNase 1 and gamma gene with DNase activity

Time: through study completion, an average of 2 years

Measure: Correlation of SNPs with major adverse cardiac events

Time: through study completion, an average of 2 years

Measure: Correlation of DNAse activity with major adverse cardiac events

Time: through study completion, an average of 2 years

Measure: Correlation of SNPs with DNA-Histone complex levels

Time: through study completion, an average of 2 years

Measure: Correlation of SNPs with MPO-DNA complex levels

Time: through study completion, an average of 2 years

Measure: Correlation of SNPs with dsDNA levels

Time: through study completion, an average of 2 years

Measure: Netosis quantification in STE-ACS patients and healthy controls

Time: through study completion, an average of 2 years

Time Perspective: Cross-Sectional

Cohort


There is one SNP

SNPs


1 Q222R

The single nucleotide polymorphism (SNP) Q222R in the DNase 1 gene, leading to impaired extracellular DNase activity, was correlated with increased incidence of myocardial infarction in Japanese patients(9). --- Q222R ---



HPO Nodes


HPO:
Myocardial infarction
Genes 79
IL12B TLR4 LDLRAP1 LDLR GTF2I GLA APOB STAT4 CCR1 BAZ1B IKZF1 TP53 SH2B3 CLIP2 ABCG8 CYP27A1 MYH9 CTNNB1 HLA-B AGPAT2 ELN FOS RFC2 ENPP1 CAVIN1 ERAP1 MEF2A MYH9 BCHE CAV1 MEFV LRP6 LMNA HLA-B LPL THOC2 CYP27A1 KLRC4 TET2 IL10 SCNN1B UBAC2 CEP19 HLA-B PIGA TBL2 CFTR RAF1 MPL BRAF C4A GTF2IRD1 IL12A-AS1 CALR IL12A IL23R JAK2 SCNN1A ABCA1 WRN JAK2 SCNN1G HGD PTPN11 MEFV BSCL2 CBS LIMK1 ABCA1 DYRK1B BRAF SLC2A10 SH2B3 PPARG PCSK9 FAS ABCG5 MLX ABCC6