SNPMiner Trials by Shray Alag


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Report for Mutation Q222R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Other: Blood draw
MeSH:Myocardial Infarction ST Elevation Myocardial Infarction Infarction
HPO:Myocardial infarction

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 ---

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


HPO Nodes