SNPMiner Trials by Shray Alag


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Report for Mutation C825T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 G Protein β3 Subunit (GNB3) Polymorphism and Restenosis of Coronary Drug-eluting Stents

The investigators hypothesized that genetic variants of G protein influence the development of restenosis and clinical outcome of patients receiving drug-eluting stents (DES).

NCT01670396 Coronary Artery Disease
MeSH:Coronary Artery Disease
HPO:Coronary artery atherosclerosis

The initial and subsequent studies suggest that the T allele of C825T polymorphism is associated with enhanced transmembrane signaling via Gi proteins. --- C825T ---

Primary Outcomes

Measure: In-stent restenosis

Time: 6-24months after stent implanting

Secondary Outcomes

Measure: target lesion revascularization (TLR)

Time: 6-24months after stent implanting

Measure: re-myocardial infarction

Time: 6-24months after stent implating

2 Genomic Analysis of the Enhanced Response to Heart Failure Therapy in African Americans

The response to therapy with a fixed dose combination of isosorbide dinitrate and hydralazine (FDC I/H) is enhanced in African Americans with heart failure and reduced ejection fraction (HFrEF) when compared to similar white cohorts. This study will seek to confirm the previous genetic sub-study from AHeFT which suggested a functional polymorphism of guanine nucleotide binding protein beta polypeptide 3 subunit (GNB3), C825T in exon 10, influences the therapeutic efficacy of FDC I/H. This study will initiate treatment with FDC I/H in 500 self designated African American subjects with systolic heart failure. They will be followed for up to two years on therapy. Clinical outcomes (survival, heart failure hospitalizations, and change in quality of life) on FDC I/H will be compared by GNB3 genotype subset. The hypothesis to be confirmed is that subjects homozygous for the T allele (those with the GNB3 TT genotype which is present in approximately 50% of black subjects) demonstrate enhanced therapeutic benefit from FDC I/H.

NCT02305095 Heart Failure Drug: FDC I/H
MeSH:Heart Failure
HPO:Congestive heart failure Left ventricular dysfunction Right ventricular failure

This study will seek to confirm the previous genetic sub-study from AHeFT which suggested a functional polymorphism of guanine nucleotide binding protein beta polypeptide 3 subunit (GNB3), C825T in exon 10, influences the therapeutic efficacy of FDC I/H. --- C825T ---

Primary Outcomes

Description: The CS combines three outcome variables into a single "score". Composite score adds points for survival over 2 years of follow up (death at any time yields -3 points, survival to end of study results in 0), heart failure hospitalization over 2 years of follow up (yes at any time results in -1 point, no results in 0), and the change in the raw quality of life score on the Minnesota Living with Heart Failure Questionnaire from entry to 6 months (change of ten units or greater=increase +2, decrease-2; change 5 to 9= increase+1, decrease -1; change < 5 units for the raw score yields 0 points). The CS will range from -6 to +2 for each patient.

Measure: Composite score (CS) no units. (survival, heart failure hospitalization, and change in the raw quality of life score on the Minnesota Living with Heart Failure Questionnaire)

Time: 2 years

Secondary Outcomes

Description: Comparison of survival on therapy by GNB3 genotype

Measure: Survival

Time: 2 years

Description: Comparison of event free survival by GNB3 genotype.

Measure: Survival free from heart failure hospitalization

Time: 2 years

Description: Evaluate the change in the raw score of the Quality of Life questionnaire by GNB3 genotype.

Measure: Change in Quality of Life Assessment by Minnesota Living with Heart Failure Questionnaire

Time: 6 months


HPO Nodes


HP:0001635: Congestive heart failure
Genes 260
TRNF TF JUP TPM1 EPG5 EPAS1 DNAJC19 PHYH LMNA ND5 TCF4 ATXN7 TRNS2 VCL EYA4 TAZ NDUFAF1 ABCC6 BSCL2 NDUFAF3 MYH7 TTN SCN5A VPS33A SLC25A3 TRNL1 AGPAT2 TNNI3 COX3 MYH7 LIMK1 PRKAG2 SCO2 TBL2 MYSM1 ENG TRNS1 TNNI3K DMD KIF1B DES COG7 GBA JUP BAG3 MST1 TRNF TRNL1 PSMB8 SLC2A10 TMEM43 VHL HADHA SCN1B CDH23 MYH7 PPA2 MDH2 PTEN MYLK2 SGCD CLIC2 LDB3 IKBKG CLIC2 ACAD9 PRKAR1A TMEM70 TRNW HBA1 ND1 DES CYTB SDHB NSMCE2 HBB CAV3 TPI1 HFE COX2 CASR PEX7 AFF4 MECP2 CEP19 SURF1 EFEMP2 TRIP4 SF3B1 SDHC CLIP2 TNNT2 HNRNPA2B1 NDUFB11 FOS ADCY5 EYA4 CP TMEM127 ATP5F1A CACNA1S ELAC2 ND1 TRNQ ACTC1 SLC25A26 HAMP DLST NDUFB8 ADCY5 SMAD4 TRPM4 STAT1 TMEM127 DSP CAV1 SDHD HADHA TRNK FBLN5 TRNS1 FGD1 ALMS1 COX2 ENPP1 HNRNPA1 TUBB RAB3GAP2 TRNK MYL3 FLNA HLA-DRB1 RASA1 ADAMTSL2 GLA RET VHL SELENON SDHB PRKAR1A SLC25A11 CYTB TRNV LMNA LMNA SDHAF2 ACVRL1 GLA GNPTAB PSEN1 BMP2 TRNL1 GDF2 ALMS1 FBN1 DSP HADHB STRADA PNPLA2 SNAP29 PSMB8 GTF2I SDHD TRNW COX3 GJA1 MYH6 BCHE LMNA MYD88 NDUFS2 TRNH ATP6V1A COX1 FH DTNA HBA2 GATAD1 PSEN2 FGFR3 HFE LMNA GLB1 RPS19 FXN GPR35 AGGF1 ND5 SDHD ND4 KCNJ5 TRNQ TRNS2 CAV1 HADHB TRIM37 ELN TET2 KIF1B RBM20 COL1A2 LMNA COX1 RYR1 CAVIN1 CCR6 SCN4A PPARG FLNC BAZ1B CCN2 MYH7 HJV MAX LMNA VHL IRF5 ABCC6 SLC22A5 RET MYPN MYH7 PPARG WRN PLN COL1A1 TRNE MAPRE2 GTPBP3 ACAD9 VCP SLC17A5 SDHB RFC2 GTPBP3 SLC19A2 PLOD1 RET SDHA TTN ND6 DSP LMNA MAX IDS FGF23 ND6 GDNF PRDM16 IFIH1 NKX2-5 XYLT1 XYLT2 ENG GTF2IRD1 GNPTAB TRNC TRNK PRKAR1A GNA11
SNP 0