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Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left

Masanori Shimodaira1, Tomohiro Nakayama, Naoyuki Sato

  • 1Division of Laboratory Medicine, Department of Pathology of Microbiology, Nihon University School of Medicine, Itabashi-ku, Tokyo, Japan.

European Journal of Endocrinology
|July 28, 2010
PubMed

Insights

Genetic variations in the HSD3B1 gene, specifically rs6203 and rs1047303, are linked to essential hypertension (EH). These HSD3B1 gene polymorphisms also correlate with blood pressure and aldosterone levels in individuals with EH.

Area of Science:

  • Genetics
  • Endocrinology
  • Cardiovascular Disease

Background:

  • HSD3B1 and HSD3B2 enzymes are vital for synthesizing hormonal steroids, including aldosterone.
  • Variations in HSD3B genes may impact blood pressure by altering aldosterone levels.

Purpose of the Study:

  • To investigate the association between HSD3B gene variations and essential hypertension (EH).
  • To explore the relationship between HSD3B gene polymorphisms, aldosterone levels, and left ventricular hypertrophy (LVH).

Main Methods:

  • A case-control study involving 275 EH patients and 286 controls.
  • Genotyping of HSD3B1 (rs3765945, rs3088283, rs6203, rs1047303) and HSD3B2 (rs2854964, rs1819698) SNPs.
  • Analysis of aldosterone levels and LVH in subsets of the study population.

Main Results:

  • Significant association found for rs6203 (recessive model) in total and male EH groups.
  • The T-C haplotype (rs3088283-rs1047303) was more frequent in EH patients.
  • Subjects with the T-C haplotype exhibited higher systolic BP, diastolic BP, and aldosterone levels.

Conclusions:

  • rs6203 and rs1047303 within the HSD3B1 gene serve as valuable genetic markers for EH.
  • HSD3B1 gene polymorphisms are associated with blood pressure and aldosterone levels.
Abstract

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