SNPMiner Trials: Mutation Report
Report for Mutation Q222R
Developed by Shray Alag, 2019.
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 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 hr>