SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01173029

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Observational Study of the Polymorphisms of the Renin-angiotensin-aldosterone System and Their Relation to Resistant Systemic Arterial Hypertension and Adverse Cardiovascular Events

Renin-angiotensin-aldosterone system (RAAS) polymorphisms influence 24h arterial pressure fluctuation. Resistant systemic arterial hypertension (RSAH) has an increased risk of end organ damage and unfavourable prognosis, whereas pseudo-RSAH usually respond favourably to drug therapy. To prospectively investigate, in subjects with RSAH in a tropical South American city: 1) Adverse cardiovascular events defined as fatal and non-fatal stroke or acute myocardial infarction (AMI); and 2) the association of RAAS polymorphisms and adverse cardiovascular events in this population. Study population: 212 hypertensives recruited from primary care assistance (time since first diagnosis of hypertension: 16.5±8.1 years) and without appropriate pressure control, between 2001 and 2006, corresponding to 0.48% of all hypertensives under care (18 new cases/year), 57±10 years old, 66% females. Under drug treatment schedule: three or more drugs including a diuretic. Ninety two randomly selected hypertensives basis had renin-angiotensin-aldosterone system genetic profile determined. Genetic assessment was carried out using a polymerase chain reaction assay amplification technique. The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C).

NCT01173029 Systemic Arterial Hypertension Hypertension Resistant to Conventional Therapy Myocardial Infarction Stroke
MeSH: Hypertension Infarction Myocardial Infarction Coronary Vasospasm
HPO: Hypertension Myocardial infarction

1 Interventions

Name: Anti-hypertensive drug treatment

Description: Anti-hypertensive drug treatment was non-investigational. Drug regimen, including which drug and the number of drugs prescribed, was left at discretion of the physician who carried primary assistance.

Type: Drug

Resistant Arterial Hypertension Pseudo-resistant Arterial Hypertension


Primary Outcomes

Description: Evidence of clinically definite stroke (focal neurological deficits persisting for more than 24 hours) confirmed or not by non-investigational computerized tomography. Death was considered to be related to the event if occurring up to 30 days after the acute event. Assessment twice an year by active and direct contact to patients or relatives and review of medical records.

Measure: Strokes, Either Fatal or Nonfatal

Time: up to 10 years

Secondary Outcomes

Description: Evidence of clinically definite stroke (focal neurological deficits persisting for more than 24 hours) confirmed or not by non-investigational computerized tomography. Evidence of clinically definite acute myocardial infarction (prolonged > 20min chest pain, not relieved by sublingual nitrate, ST-T segment deviation on 12-lead surface ECG, elevation of plasma troponin >0.2 ng/dL 6h following chest pain episode). Death was considered to be related to the event if occurring up to 30 days after the acute event. Assessment twice an year by active and direct contact to patients or relatives and review of medical records.

Measure: Composite of Acute Myocardial Infarctions and/or Strokes Either Fatal or Nonfatal

Time: up to 10 years

Time Perspective: Prospective

Cohort


There are 5 SNPs

SNPs


1 A1166C

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A --- --- M235T --- --- A1166C ---


2 C344T

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A --- --- M235T --- --- A1166C --- --- C344T ---


3 G1051A

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A ---


4 G3514C

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A --- --- M235T --- --- A1166C --- --- C344T --- --- G3514C ---


5 M235T

The following single nucleotide polymorphisms were analyzed: renin (G1051A), angiotensinogen (M235T), angiotensin converting enzyme-ACE (I/D), angiotensin II type 1 receptor (A1166C), aldosterone synthase (C344T) and mineralocorticoid receptor (G3514C). --- G1051A --- --- M235T ---



HPO Nodes


HPO:
Hypertension
Genes 282
MKKS TET2 LDLRAP1 HGD IL12B TMEM67 DNAJB11 POU6F2 MYH7 PDE3A MYH11 ERCC4 PRTN3 ERCC6 DIS3L2 ZMPSTE24 MYLK TRAF3IP1 HLA-B ACAT1 TMEM237 LEMD3 HLA-DPA1 HLA-DPB1 ENPP1 CYP11B1 IFT172 MAT2A CYP11B2 CYP17A1 HLA-DRB1 CYP21A2 MAX SDCCAG8 B2M KIF1B CD2AP TRPC6 ACTA2 MC4R GBA BBS1 BBS2 CDH23 BBS4 HMBS PTPN22 HPSE2 IRF5 ACTN4 GCH1 EXT2 TNFRSF11A KCTD1 ACVRL1 GPR101 MDH2 RREB1 WNK1 NPHP4 TRIP13 ADA2 BBS9 BANF1 NFU1 ALX4 STAT1 PHF21A MKS1 HIRA NOD2 SLC52A3 LRIG2 ARL6 JAK2 SLC2A10 TTC8 ERCC8 KLHL3 GJA1 BMPR2 FBN1 GANAB NF1 CLCN2 GLA GPC3 MGP ALMS1 BRCA2 SDHAF2 FIG4 ARHGAP31 NFIX KCNJ5 SCN2B TMEM70 UFD1 PKD1 PKD2 SCNN1A PKHD1 SCNN1B WDR35 FGA SCNN1G MYMK CC2D2A MAFB CACNA1H NR3C2 CCR6 FGFR2 GNAS HSD11B2 SLC52A2 NME1 FH PLIN1 ADAMTSL4 ABCG5 ABCG8 WNK4 NOTCH1 TBX1 NOTCH2 SDHA FOXF1 NOTCH3 SDHB SDHC SDHD PCSK9 PDE11A GP1BB COL1A1 FOXE3 MPL COL3A1 NPHP1 CUL3 VHL COL4A3 COL4A4 COL4A5 CACNA1D COL5A1 COL5A2 IFT27 KRT8 FMO3 RPGRIP1L FMR1 FN1 COMT OFD1 MLX SH2B3 KRT18 CLIP2 CALR SMARCAL1 LZTFL1 CEP290 WRN WT1 BBIP1 ITGA8 ELP1 FUZ BAZ1B POR ABCB6 APOA1 POU3F4 PAM16 APOB GATA5 AIP CAV1 BBS5 REST CPOX RET NR3C1 PPARG OSGEP RFC2 GTF2IRD1 ECE1 IDUA NSMCE2 SERPINA6 LARS2 TMEM127 EDA CBS LDLR JMJD1C ABCC6 WDPCP CEP164 TNFRSF11B BBS10 WDR19 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 MFAP5 USP8 MLXIPL ANGPTL6 LIMK1 VAC14 NPHP3 GTF2I THPO TRNC SEC24C LMNA COX1 COX2 COX3 EGFR ARVCF GUCY1A1 SUGCT CYTB LMX1B TRIM32 TRIM28 BBS7 PDE8B VANGL1 LOX ND1 ARMC5 IQCB1 XPNPEP3 ND4 ND5 DYRK1B ND6 PRKACA PRKAR1A NKX2-5 TRNE TRNF YY1AP1 CCN2 BSCL2 TRNH CTLA4 ELN TRNK TRNL1 PRKG1 C8ORF37 TRNQ TRNS1 TRNS2 TRNV TRNW HBB LYZ ENG MUC1 BBS12 G6PC SLC37A4 TBL2 EDA2R H19 COQ7 TP53 SMAD3 CEP19 SMAD4 INVS SMAD6
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