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


Congestive heart failure
Genes 250
PTEN HJV BAZ1B PEX7 HBA1 ND1 TNNT2 TRIM37 ACAD9 AGPAT2 TRNS1 LMNA EYA4 ND4 MYH7 LMNA RFC2 DSP NDUFAF3 TMEM43 SF3B1 HADHB SLC25A11 COX2 ENG HBA2 CEP19 LMNA TRNQ TRNQ GTF2IRD1 IDS MYL3 MYH7 ATXN7 ND6 HNRNPA1 CACNA1S FLNC XYLT2 EPG5 BSCL2 MYH6 FBN1 TRNK GBA SLC2A10 TRNV COX3 RET PRKAR1A MDH2 TRNK IRF5 MYH7 GPR35 TRNL1 ENG SURF1 STAT1 NSMCE2 SGCD ATP5F1A PLN TUBB PLOD1 CAV3 SLC25A26 SLC19A2 MYD88 GLA TPM1 GNPTAB RBM20 LMNA CDH23 TRNW CLIP2 MYPN TSC1 BMP2 HAMP TRNF ADCY5 LMNA LDB3 TTN ELN ENPP1 CAVIN1 TF MAX ELAC2 NDUFS2 CYTB DES DMD MYLK2 MAX TBL2 HLA-DRB1 ALMS1 PNPLA2 SLC17A5 COG7 SLC22A5 MYH7 PSMB8 SCN1B EYA4 MST1 FH TMEM127 MYH7 ND6 PPARG SDHA MAPRE2 COX1 JUP PSEN2 RASA1 ND5 SLC25A3 LMNA DLST TRNF IFIH1 ADCY5 SDHB SCN4A FXN GDF2 GTF2I HADHA GJA1 GNA11 RYR1 HFE SNAP29 TRNH TNNI3K FLNA TRNS2 SDHAF2 LMNA ACVRL1 TSC2 CASR FOS FGFR3 TRNK TRNL1 BCHE CCR6 CAV1 FGF23 VHL TMEM70 ADAMTSL2 DTNA PRKAG2 BAG3 TRNE SMAD4 TRNS2 ACAD9 SDHC PRKAR1A TAZ CAV1 ALMS1 TRNS1 NDUFB8 LIMK1 CLIC2 GATAD1 SDHD NDUFAF1 PRDM16 SELENON TRPM4 ACTC1 PRKAR1A SCN5A RPS19 TRIP4 FBLN5 SDHB NDUFB11 ATP6V1A HNRNPA2B1 CCN2 PSMB8 PPA2 TRNL1 COX1 RAB3GAP2 TNNI3 HFE COL1A2 TRNC CLIC2 DSP ND1 SCO2 JUP SDHD TRNW COX3 EFEMP2 AGGF1 TMEM127 TCF4 LMNA DSP KIF1B COL1A1 COX2 TPI1 GNPTAB FGD1 PSEN1 RET GLB1 KCNJ5 PHYH DES GTPBP3 HADHB WRN ND5 MECP2 HADHA GDNF VCL GLA TTN KIF1B VHL VCP ABCC6 PPARG CP XYLT1 TET2 DNAJC19 IKBKG NKX2-5 ABCC6
Coronary artery atherosclerosis
Genes 48
LMNA LDLRAP1 LDLR ACTA2 CYP7A1 FBN1 APOE APOB ESR1 MAT2A ABCA1 KCNJ5 ABCG8 MYH11 ZNF687 TGFB2 LMNA LMNA ELN LMNA LIPC PPARG LMNA FOXE3 SERPIND1 SMAD4 TGFBR2 SMPD1 MFAP5 ABCA1 APOB LMNA LOX SMAD3 MYH11 MYH11 LOX LMNA PCSK9 ACTA2 ABCG8 ZMPSTE24 TGFB3 PRKG1 TGFBR1 MYLK CEP19 ABCG5