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.: Home > International Journal of Medical Sciences > 2008 > Volume 5 Number 1 > Masanori Shimodaira1, Tomohiro Nakayama2, Naoyuki Sato3, Kosuke Saito2,4, Akihiko Morita5, Ichiro Sato6, Teruyuki Takahashi7, Masayoshi Soma8, Yoichi Izumi8

Association Study of Aromatase Gene (CYP19A1) in Essential Hypertension

Masanori Shimodaira1, Tomohiro Nakayama2, Naoyuki Sato3, Kosuke Saito2,4, Akihiko Morita5, Ichiro Sato6, Teruyuki Takahashi7, Masayoshi Soma8, Yoichi Izumi8
1. MD Program, Nihon University School of Medicine, Tokyo, Japan 2. Division of Receptor Biology, Advanced Medical Research Center, Tokyo, Japan 3. Division of Genomic Epidemiology and Clinical Trials, Advanced Medical Research Center, Tokyo, Japan 4. Department of Applied Chemistry, Toyo University School of Engineering, Tokyo, Japan 5. Department of Neurology, Division of Neurology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan 6. Department of Obstetrics and Gynecology, Nihon University School of Medicine, Tokyo, Japan 7. Department of Neurology, Graduate School of Medicine, Nihon University, Tokyo, Japan 8. Division of Nephrology and Endocrinology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan
Abstract :

Background: As aromatase-deficient mice, which are deficient in estrogens, reportedly have reduced blood
pressure, the aromatase gene (CYP19A1) is thought to be a susceptibility gene for essential hypertension (EH).
The aim of the present study was to investigate the relationship between CYP19A1 and EH by examining single
nucleotide polymorphisms (SNPs).
Methods: Five SNPs in the human CYP19A1 gene (rs1870049, rs936306, rs700518, rs10046 and rs4646) were
selected, and an association study was performed in 218 Japanese EH patients and 225 age-matched
normotensive (NT) individuals.
Results: There were significant differences between these groups in the distribution of genotypes rs700518 and
rs10046 in male subjects, and genotypes rs700518, rs10046 and rs4646 in female subjects. On multiple logistic
regression analysis, a significant association between rs700518 (p=0.023) and rs10046 (p=0.036) in male subjects
and rs700518 in female subjects (p=0.018) was noted. Interestingly, the risk genotypes of rs700518 and rs10046
showed a sex-dependent inverse relationship. Both SBP and DBP levels were higher in total (cases and controls)
male subjects with the G/G genotype with rs700518 or the T/T genotype with rs10046 than in male subjects
without the G/G genotype or T/T genotype. SBP levels were lower in female subjects with the G/G genotype
with rs700518 than in female subjects without G/G. The A-T haplotype constructed with rs1870049 and rs10046
was a susceptibility marker for EH.
Conclusions: We confirmed that rs700518 and rs10046, as well as a haplotype constructed with rs1870049 and
rs10046, in the human CYP19A1 gene can be used as genetic markers for gender-specific EH.

Keywords :
Essential hypertension, aromatase, CYP19A1, single nucleotide polymorphism, genetic

Date Deposited : 28 Jul 2011 10:18

Last Modified : 28 Jul 2011 10:18

Official URL: http://www.medsci.org/archive

Volume 5, Number 1, - 2008 , ISSN 1449-1907

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