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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


HP:0000822: Hypertension
Genes 418
PDE11A WT1 BBS10 TGFB2 COL1A1 KCTD1 MLX ND5 SCNN1A GPR101 TRNS2 B2M CFI NOTCH3 ALX4 TNFRSF11A GATA5 EXT2 LYZ MUC1 ERCC6 TRNL1 STOX1 COX3 PRKACA MTTP BSCL2 TRNS1 PKD2 KRT8 TRNL1 SLC2A10 CDH23 LEMD3 WT1 TBX1 TRIM28 KCTD1 ND1 CYTB WNK1 ELP1 WDR19 AIP COX2 LOX TGFBR2 GCH1 KRT18 SCNN1B CORIN UFD1 CFH SCNN1G HGD PDE11A COL4A4 BRCA2 NR3C1 CACNA1D LMNA FBN1 ND1 TRNQ VHL JMJD1C CBS RPGRIP1L TGFBR3 POR SDHD TRNS1 ALMS1 CACNA1H TSC1 LRP6 CD2AP FBN1 COX2 DYRK1B SEC24C ADA2 HPSE2 NF1 LDLRAP1 HLA-DRB1 WNK4 ACVRL1 CCND1 FBN1 VHL GLA PDE3A ABCG8 SH2B3 MMP2 SLC52A2 ARMC5 SLC25A11 ERCC4 BBIP1 PAM16 HLA-DPA1 PDE8B ACAT1 LMNA GLA GUCY1A1 MAFB DIS3L2 COL5A2 NKX2-5 CYP11B1 TRNL1 BBS1 FGFR2 LEMD3 MYH7 PPARG FLT1 FN1 COMT MYMK MTRR FOXF1 FN1 CFB MKKS SDHD CYP11B1 MGP SDCCAG8 GJA1 SH2B3 CYP17A1 SUGCT TGFB3 COX1 ANGPTL6 ELN ACTN4 REST HMBS HSD11B2 ND5 SDHD SMAD4 ND4 KCNJ5 LRIG2 NPHP1 TRNQ FMO3 HMBS PTPN22 FGFR2 GBA ELN KIF1B SDHB SLC2A10 COX1 ENG RREB1 CCR6 CYP11B1 PLIN1 CCN2 LMX1B ACTA2 CD46 VHL CACNA1D G6PC PPARG MMP14 NPHP1 WRN APOA1 GP1BB KCNJ5 GPC3 ARHGAP31 RFC2 SMAD3 ND6 MAX SCNN1B ND6 CTLA4 PRTN3 SCNN1G RET PLIN1 USP8 C3 XYLT1 HLA-B XYLT2 FGA TRNC TRNF EPAS1 APOB BBS7 BBS2 BNC2 FOXE3 SDHC IQCB1 NOS3 BBS9 ABCC6 KIF1B COL4A5 H19 EDA2R CYP17A1 ELN PKHD1 HBB ENPP1 LIMK1 TBL2 LZTFL1 CPOX CEP164 USP8 CALR KIF1B SLC37A4 ZMPSTE24 TRNF SERPINA6 TMEM67 VHL JAK2 MDH2 ARMC5 SMARCAL1 FUZ ABCC6 TRNW POU3F4 SDHB NSMCE2 OFD1 MEF2A WT1 KLHL3 XPNPEP3 HIRA GNAS TP53 PDE3A CEP19 BANF1 SPRY2 INVS ADA2 BBS1 FBN1 NOD2 SDHC CLIP2 ERCC8 HSD11B2 NPHP3 TMEM127 HLA-DPB1 TNFRSF11B SDCCAG8 DLST MC4R CEP290 EGFR STAT1 TMEM127 COL3A1 YY1AP1 CAV1 COQ7 INVS ADA2 NOTCH1 TRNK BBS12 NFIX TRIP13 TRPC6 IDUA OFD1 LMX1B WDR35 ENPP1 BMPR2 CEP290 MFAP5 LMNA TRNK MKS1 POU6F2 PKD1 CC2D2A MAT2A MYH11 LDLR RET COL3A1 VHL CCDC28B SCN2B SDHB NOTCH2 ECE1 CDH23 IFT27 TRNV SMAD4 TRIM32 SDHAF2 GNAS MYLK ALMS1 ARL6 TSC2 AIP PRKAR1A WT1 ITGA8 TRIM28 ARVCF GTF2I LARS2 TRNW THPO COX3 CYP11B2 TMEM237 SLC37A4 CYP11B1 IFT172 COL5A1 SMAD6 TRAF3IP1 TMEM70 TRNH FH DNAJB11 NFU1 CFHR1 TBX1 BBS4 KCNJ5 COL4A3 AIP TRNS2 NR3C1 MLXIPL NPHP1 LMNA GUCY1A1 EDA SLC25A11 ACTA2 SCNN1A CFHR3 FMR1 LMNA TTC8 PRKG1 PRKACA TGFBR1 FIG4 ELP1 BAZ1B IL12B MAX IRF5 NPHP4 PHF21A ABCC6 RET WDPCP YY1AP1 CUL3 COL4A3 ADAMTSL4 BBS5 SLC52A3 OSGEP GANAB GNAS CYP21A2 TRNE SDHB ABCB6 VAC14 JAK2 RET SDHA PRKAR1A SDHD PCSK9 GDNF WT1 TET2 NR3C2 SMAD4 CLCN2 ABCG5 MPL C8ORF37 GTF2IRD1 VANGL1 TRNK THBD PRKAR1A