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A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men

Hye-Rim Kim1, Hyun-Seok Jin2, Yong-Bin Eom1,3

  • 1Department of Medical Sciences, Graduate School, Soonchunhyang University, Asan 31538, Chungnam, Korea.

Genes
|June 2, 2021
PubMed

Insights

This study identified genetic factors linked to hypertensive kidney disease (HKD). The FANCM gene was significantly associated with HKD development, offering new insights into this common comorbidity.

Area of Science:

  • Genetics
  • Nephrology
  • Cardiology

Background:

  • Hypertension is a primary risk factor for chronic kidney disease (CKD).
  • The combination of hypertension and CKD elevates morbidity and mortality rates.
  • Research on genetic factors specifically for hypertensive kidney disease (HKD) is limited.

Purpose of the Study:

  • To identify genetic loci and genes associated with hypertensive kidney disease (HKD).
  • To investigate the genetic underpinnings of HKD using genome-wide association studies.

Main Methods:

  • Conducted a genome-wide association study (GWAS) in two Korean cohorts (HEXA and KARE).
  • Analyzed HKD-related traits including eGFR, creatinine, BUN, systolic blood pressure (SBP), and diastolic blood pressure (DBP).
  • Performed expression quantitative trait loci (eQTL) analysis to assess SNP effects on gene expression in relevant tissues.

Main Results:

  • Identified 19 single nucleotide polymorphisms (SNPs) significantly associated with HKD.
  • The 14q21.2 locus showed strong linkage disequilibrium (LD) and association with HKD traits.
  • The FANCM gene emerged as the most significantly associated candidate gene through integrated GWAS and eQTL analysis.

Conclusions:

  • The FANCM gene plays a role in the pathogenesis of hypertensive kidney disease (HKD).
  • This study provides valuable genetic insights into HKD.
  • Findings can guide future research for prioritizing other candidate genes involved in HKD.

Keywords:
FANCM geneestimated glomerular filtration rate (eGFR)hypertensive kidney disease (HKD)single nucleotide polymorphism (SNP)

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