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A genome-wide association study identifies a novel association between SDC3 and apparent treatment-resistant

Xiao Xiao1, Rui Li1, Cunjin Wu1

  • 1State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Rd, Beijing, China.

BMC Medicine
|November 29, 2022
PubMed

Insights

Apparent treatment-resistant hypertension (aTRH) involves genetic factors. This study identified lower SDC3 gene expression in aTRH patients, suggesting SDC3 as a potential therapeutic target for this condition.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Hypertension Research

Background:

  • Apparent treatment-resistant hypertension (aTRH) is linked to increased mortality risk.
  • The underlying causes of aTRH remain poorly understood.

Purpose of the Study:

  • To investigate the genetic basis of apparent treatment-resistant hypertension (aTRH).
  • To identify novel genes associated with aTRH pathogenesis.

Main Methods:

  • Genome-wide association study (GWAS) in a cohort of 586 aTRH patients and 871 controls.
  • Expression quantitative trait locus (eQTL) analysis to link genetic variants with gene expression.
  • Validation of candidate genes in an independent cohort using gene expression profiling and RT-qPCR.

Main Results:

  • GWAS identified suggestive loci, with SNPs near genes including SDC3, LAPTM5, and UGT2A1.
  • eQTL analysis indicated that specific SNPs influenced SDC3 and LAPTM5 expression.
  • Validation confirmed significantly lower SDC3 gene expression in aTRH patients compared to controls.

Conclusions:

  • SDC3 is newly associated with apparent treatment-resistant hypertension (aTRH).
  • This finding contributes to understanding aTRH etiopathogenesis.
  • SDC3 represents a potential therapeutic target for aTRH.
Abstract

Keywords:
GWASSDC3aTRHeQTL

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