CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: The Ohasama study

Mitsunobu Matsubara, Tomomi Sato, Takuya Nishimura, Michiko Suzuki, Masahiro Kikuya, Hirohito Metoki, Mari Michimata, Ichiro Tsuji, Toshio Ogihara, Yutaka Imai

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Abstract

Genetic polymorphisms of the aldosterone synthase gene (CYP11B2) have been major targets of studies into the genetic factors involved in hypertension. We have identified three genetic variants of CYP11B2, -344C/T at the promoter region, a conversion in intron 2 from the CYP11B2 sequence to the CYP11B1 sequence, and R173K in exon 3, in the Japanese population. -344C/T and R173K were in complete linkage disequilibrium in CYP11B2, and -344C/T was in strong, but not complete, linkage disequilibrium with the polymorphism in intron 2. Thus, two genetic polymorphisms, -344C/T and the gene conversion in intron 2, were investigated in association with home blood pressure (BP) values and clinical parameters in 1,242 subjects aged 40 and over in Ohasama, a rural Japanese community. Hypertension was defined as being treated with antihypertensive medication and/or having home BP values of more than 135 mmHg in systole and/or 85 mmHg in diastole. The results demonstrated that the -344T allele was significantly associated with increased prevalence of hypertension (p=0.015 in multiple logistic regression analysis, adjusted by age, gender, BMI, and smoking status), though BP level was unaltered. This allele was also significantly related to the prevalence of cardiovascular diseases in the older population (60 ≤ age, p=0.014). The resting polymorphism, a gene conversion in CYP11B2 intron 2, was not associated with any clinical parameters. Therefore, -344C/T polymorphism in CYP11B2 was considered an independent genetic factor possibly associated with hypertension or atherosclerotic diseases in the Japanese population.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalHypertension Research
Volume27
Issue number1
DOIs
Publication statusPublished - 2004 Jan

Keywords

  • Aldosterone
  • Aldosterone synthase
  • Cortisol
  • Hypertension

ASJC Scopus subject areas

  • Internal Medicine
  • Physiology
  • Cardiology and Cardiovascular Medicine

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    Matsubara, M., Sato, T., Nishimura, T., Suzuki, M., Kikuya, M., Metoki, H., Michimata, M., Tsuji, I., Ogihara, T., & Imai, Y. (2004). CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: The Ohasama study. Hypertension Research, 27(1), 1-6. https://doi.org/10.1291/hypres.27.1