SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03590522

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure

Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy

NCT03590522 Heart Failure
MeSH: Heart Failure Genetic Diseases, Inborn
HPO: Congestive heart failure Left ventricular dysfunction Right ventricular failure

1 Interventions

Name: Ryanodine Receptor 2 gene expression

Description: Ryanodine Receptor 2 gene expression will be measured by real time PCR. In addition, amino acids analysis will be measured in plasma by amino acid analyzer.

Type: Genetic

Group I: Group II:


Primary Outcomes

Description: better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and the role of amino acids in pathogenesis of heart failure

Measure: Decrease cardiac ryanodine Receptor 2 gene expression and change of amino acids levels in patients with heart failure.

Time: Baseline

Time Perspective: Cross-Sectional

Case-Control


There is one SNP

SNPs


1 S2808A

In support of this hypothesis, mice unable to undergo phosphorylation at RyR2-S2808 (S2808A) were significantly protected against HF and displayed a blunted response to adrenergic stimulation. --- S2808A ---



HPO Nodes


HPO:
Congestive heart failure
Genes 180
HJV TPM1 VHL HFE MYD88 ATP6V1A CACNA1S NDUFB11 FLNA SCO2 TCF4 FLNC MYH6 PNPLA2 MYH7 FBLN5 EYA4 MYL3 PSEN1 PSEN2 RASA1 CLIP2 DSP GPR35 DNAJC19 COG7 SGCD DTNA ENPP1 ACAD9 FOS HLA-DRB1 MAX GNPTAB KIF1B EFEMP2 NDUFAF3 BAG3 AGPAT2 WRN TUBB SLC19A2 PSMB8 IKBKG GBA AGGF1 ACTC1 BAZ1B PEX7 CDH23 CP CASR IRF5 RPS19 TSC1 TSC2 TMEM43 SLC25A26 CAV1 FXN RET PPARG ACVRL1 RFC2 IDS MDH2 PTEN GTF2IRD1 NSMCE2 GDF2 TMEM127 SELENON TTN HNRNPA1 NDUFB8 TF MECP2 TRIP4 HNRNPA2B1 ADCY5 ABCC6 ELAC2 RBM20 NDUFS2 STAT1 RYR1 EPG5 SNAP29 SLC25A3 MST1 SLC2A10 SLC17A5 IFIH1 GJA1 DES FGF23 TNNI3K JUP LIMK1 PHYH LDB3 FBN1 GTF2I GLA NDUFAF1 TRNC GLB1 LMNA COX1 ALMS1 COX2 COX3 SDHAF2 CYTB CLIC2 ATXN7 KCNJ5 SURF1 RAB3GAP2 ND1 MYPN TMEM70 SLC22A5 SCN4A ND4 PPA2 ND5 ND6 FGD1 PRKAR1A GATAD1 TRNE TRNF GNA11 CCN2 CCR6 CAVIN1 BSCL2 TRNH FGFR3 ELN HADHA TRNK TRNL1 HADHB HAMP DMD TRNQ PRKAG2 TRNS1 FH HBA1 TRNS2 GTPBP3 HBA2 TRNV TNNI3 TRNW TNNT2 ENG MAPRE2 PLN PLOD1 PRDM16 TRIM37 TBL2 ATP5F1A SDHA TAZ SDHB VCL ADAMTSL2 SDHC VCP SDHD CEP19 SMAD4 COL1A1 COL1A2 TPI1
Left ventricular dysfunction
Genes 62
POMT2 TGFB2 TGFB3 TGFBR1 LDLRAP1 TGFBR2 SDHAF1 MFAP5 MYH7 LDB3 MYH11 EYA4 FBN1 MYLK TRNC LMNA COX1 COX2 COX3 SLC25A4 CYTB FKRP SGCG LOX MAT2A RRM2B POLG ND1 ACTA2 ND5 ND6 LAMA2 TWNK CASQ2 TRNF APOB ELN TRNK TRNL1 PRKG1 POMT1 TRNQ TRNS1 TRNS2 POLG2 TRNV TRNW PPCS PRDM16 TRDN TTN LDLR ABCG5 ABCG8 TOP3A SDHA RYR2 SDHB SMAD3 SDHD PCSK9 FOXE3
Right ventricular failure
Genes 7
DAXX MYH7 ATRX BMPR2 SELENON SDHD TTN