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Report for SNP rs7571842

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 D1 and AT1 Receptor Interaction in Human Hypertension: Sodium Sensitivity of Blood Pressure

Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) of the sodium-bicarbonate co-transporter gene (SLC4A5) are associated with hypertension. We tested the hypothesis that SNPs in SLC4A5 are associated with salt sensitivity of blood pressure in 185 whites consuming an isocaloric constant diet with a randomized order of 7 days of low sodium (Na+) and 7 days of high Na+ intake. Salt sensitivity was defined as a ≥7-mm Hg increase in mean arterial pressure during a randomized transition between low and high Na+ diet. A total of 35 polymorphisms in 17 candidate genes were assayed, 25 of which were tested for association. Association analyses with salt sensitivity revealed 3 variants that associated with salt sensitivity. Of these, 2 SNPs in SLC4A5 (rs7571842 and rs10177833) demonstrated highly significant results and large effects sizes, using logistic regression. These 2 SNPs had P values of 1.0×10−4 and 3.1×10−4 with odds ratios of 0.221 and 0.221 in unadjusted regression models, respectively, with the G allele at both sites conferring protection. These SNPs remained significant after adjusting for body mass index and age (P=8.9×10−5 and 2.6×10−4 and odds ratios 0.210 and 0.286, respectively). Furthermore, the association of these SNPs with salt sensitivity was replicated in a second hypertensive population. Meta-analysis demonstrated significant associations of both SNPs with salt sensitivity (rs7571842 [P=1.2×10−5]; rs1017783 [P=1.1×10−4]). In conclusion, SLC4A5 variants are strongly associated with salt sensitivity of blood pressure in 2 separate white populations.

NCT01899495 Hypertension Other: High sodium diet and low sodium diet
MeSH: Hypertension
HPO: Hypertension

Of these, 2 SNPs in SLC4A5 (rs7571842 and rs10177833) demonstrated highly significant results and large effects sizes, using logistic regression.

Meta-analysis demonstrated significant associations of both SNPs with salt sensitivity (rs7571842 [P=1.2×10−5];

Primary Outcomes

Description: The mean arterial pressure that will determine salt sensitivity will be assessed during the last day of the diet week. The study will be stopped for any individual during any visit if there is an average blood pressure of >180/114 mmHg.

Measure: Blood pressure; Change in Mean Arterial Pressure from low salt diet to high salt diet

Time: Study subjects will be observed 5 times during the 2 week intervention

Secondary Outcomes

Measure: Urine sodium

Time: Urine chemistry analysis will be assessed from a 24-hour urine collection on the last day of each diet week.

Measure: Genetic analysis for specified genes associated with hypertension

Time: During the screening visit


HPO Nodes


Hypertension
Genes 410
GPC3 MPL PRKAR1A ABCG8 ND1 CYP11B1 TRNS1 B2M MMP2 BRCA2 SDCCAG8 HMBS LYZ PKD1 C8ORF37 BSCL2 WT1 SCNN1B SLC25A11 COX2 CEP19 TRNQ YY1AP1 ECE1 WT1 KCNJ5 ENPP1 FN1 PDE11A HGD SLC25A11 HSD11B2 MFAP5 GUCY1A1 DYRK1B SPRY2 SLC2A10 SMAD6 COX3 SCNN1G SCNN1B LARS2 FOXF1 NPHP4 TRNL1 TMEM67 IL12B HIRA TRIM28 MLXIPL CDH23 CLIP2 HLA-B TRNF POU6F2 NFU1 SDHC CEP290 ENPP1 EDA CYTB SDCCAG8 HLA-DPB1 SCNN1A NKX2-5 COL5A1 LEMD3 YY1AP1 TBL2 ALMS1 NOTCH3 CLCN2 ARVCF SEC24C CFH FH TGFB2 TMEM127 ARMC5 AIP SDHA JMJD1C COX1 ND5 COMT NF1 CACNA1D TGFBR1 REST LDLRAP1 GTF2I PDE3A TNFRSF11B MAT2A HSD11B2 TRNH CORIN SERPINA6 BBS10 AIP MAFB FOXE3 SCN2B SMAD4 CYP11B1 TRNK SLC52A3 TRNL1 CYP17A1 GBA SDHB BBS1 HBB CCR6 XPNPEP3 ERCC4 VHL BBS7 GP1BB TRNE OSGEP PPARG NOS3 TRPC6 HMBS JAK2 VHL KRT18 TRNS1 WT1 NPHP1 SDHD INVS KCTD1 OFD1 USP8 FIG4 TRIM28 LRIG2 PCSK9 SDHB SCNN1G CCN2 COL1A1 TRNL1 WT1 PTPN22 LDLR PRKAR1A COX1 VHL TRNC COQ7 LEMD3 PRKACA MKKS BBS5 SLC52A2 SDHD TRNW COX3 RREB1 GPR101 SMAD3 INVS KIF1B DNAJB11 COX2 APOA1 RET ARHGAP31 KCNJ5 WT1 ND5 GDNF CUL3 GLA FLT1 ACVRL1 TNFRSF11A VHL GNAS PRTN3 COL3A1 ABCC6 XYLT1 CYP11B1 ADAMTSL4 FGA C3 COL5A2 BBS9 ERCC6 KCNJ5 FBN1 APOB BAZ1B PAM16 POU3F4 TMEM70 ND4 STOX1 GNAS RFC2 TGFBR2 CALR IQCB1 CYP21A2 MMP14 SLC37A4 ALX4 TRNQ TBX1 THPO GTF2IRD1 GATA5 ND6 FN1 RPGRIP1L CFB ANGPTL6 RET XYLT2 VANGL1 NR3C1 PDE11A NR3C2 POR TRNK BMPR2 MGP TRNV SUGCT RET MYH11 PRKAR1A MDH2 FMO3 KLHL3 WNK4 TMEM237 LZTFL1 TRNK IRF5 STAT1 NSMCE2 MUC1 COL4A4 HLA-DPA1 GLA IDUA NOTCH2 TRNW CC2D2A SCNN1A NR3C1 CPOX USP8 BBS2 ELN CYP11B2 SMARCAL1 LMX1B BNC2 TRIM32 MAX MKS1 PKD2 LRP6 PRKACA COL3A1 SDHD NPHP1 MAX PRKG1 MYLK HLA-DRB1 DIS3L2 CFI LMX1B ACAT1 ELN EGFR ND6 ELP1 ELN SLC37A4 PPARG CEP164 LMNA PLIN1 DLST TP53 TRNF SMAD4 LOX UFD1 FMR1 SDHB NOTCH1 SMAD4 BBS12 IFT172 ABCG5 MYMK CFHR1 TRIP13 SLC2A10 GJA1 WDPCP FUZ CYP17A1 TRNS2 WDR35 MYH7 SDHAF2 LMNA NPHP3 GUCY1A1 EXT2 HPSE2 OFD1 LMNA FGFR2 MEF2A PLIN1 COL4A3 CEP290 ACTA2 KIF1B CD2AP TGFB3 FBN1 TRNS2 SH2B3 COL4A5 NOD2 SDHC PDE3A G6PC THBD FBN1 CAV1 TTC8 ALMS1 ITGA8 LMNA GANAB LIMK1 BBIP1 CTLA4 BANF1 CCDC28B CFHR3 FBN1 H19 CACNA1H ARMC5 AIP CCND1 ADA2 ARL6 EDA2R CBS SH2B3 TET2 CACNA1D ADA2 ND1 VAC14 IFT27 PDE8B CYP11B1 TRAF3IP1 CDH23 BBS1 TMEM127 COL4A3 GNAS ELP1 ACTA2 NPHP1 MTTP WNK1 WDR19 ZMPSTE24 CD46 GCH1 KCTD1 ADA2 ABCB6 ACTN4 NFIX ENG TGFBR3 ABCC6 WRN LMNA BBS4 PKHD1 FGFR2 MC4R ERCC8 KIF1B KRT8 TBX1 JAK2 PHF21A MLX ABCC6