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>