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Report for Clinical Trial NCT02615015

Developed by Shray Alag, 2019.
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: Infarction Myocardial Infarction ST Elevation Myocardial Infarction
HPO: Myocardial infarction

1 Interventions

Name: Blood draw

Type: Other

ST elevation myocardial infarction patient cohort Healthy proband 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 67
MPL IL10 JAK2 TET2 RAF1 SLC2A10 LDLRAP1 IL12A HGD IL12B LIMK1 ABCA1 MYH9 PTPN11 GTF2I GLA PIGA LMNA BRAF MLX HLA-B SH2B3 CLIP2 ERAP1 CALR IL12A-AS1 ENPP1 FOS LPL CFTR CYP27A1 AGPAT2 TLR4 DYRK1B WRN SCNN1A SCNN1B SCNN1G BAZ1B CCR1 UBAC2 APOA1 C4A IKZF1 APOB CAVIN1 BSCL2 ELN CAV1 CTNNB1 PPARG RFC2 GTF2IRD1 FAS CBS LDLR KLRC4 ABCC6 TBL2 ABCG5 ABCG8 MEFV IL23R TP53 STAT4 PCSK9 CEP19