SNPMiner Trials (Home Page)
Report for Mutation Q222R
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
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.
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
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 hr>