| Association of HSD3B1 and HSD3B2 gene polymorphisms with essential hypertension, aldosterone level, and left ventricular structure. | |
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MedLine Citation:
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PMID: 20660004 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: HSD3B1 and HSD3B2 are crucial enzymes for the synthesis of hormonal steroids, including aldosterone. Therefore, HSD3B gene variations could possibly influence blood pressure (BP) by affecting the aldosterone level. METHODS: We performed a haplotype- and diplotype-based case-control study to investigate the association between the HSD3B gene variations and essential hypertension (EH), aldosterone level, and left ventricular hypertrophy (LVH). A total of 275 EH patients and 286 controls were genotyped for four SNPs of the HSD3B1 gene (rs3765945, rs3088283, rs6203, and rs1047303) and for two SNPs of the HSD3B2 gene (rs2854964 and rs1819698). Aldosterone and LVH were investigated in 240 and 110 subjects respectively. RESULTS: Significant differences were noted for the total and the male subject groups for the recessive model (CC versus TC+TT) of rs6203 between the controls and EH patients (P=0.030 and P=0.008 respectively). The frequency of the T-C haplotype established by rs3088283-rs1047303 was significantly higher for EH patients compared with the controls (P=0.014). Even though the polymorphism of HSB3B1 was not associated with LVH, the diplotype established by rs3088283-rs1047303 in the total subject group, along with the systolic BP, diastolic BP, and aldosterone level were significantly higher for those subjects who had the T-C haplotype versus those who did not (P=0.025, P=0.014, and P=0.006 respectively). CONCLUSION: rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for EH, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level. |
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Authors:
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Masanori Shimodaira; Tomohiro Nakayama; Naoyuki Sato; Noriko Aoi; Mikano Sato; Yoichi Izumi; Masayoshi Soma; Koichi Matsumoto |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-07-21 |
Journal Detail:
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Title: European journal of endocrinology / European Federation of Endocrine Societies Volume: 163 ISSN: 1479-683X ISO Abbreviation: Eur. J. Endocrinol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-17 Completed Date: 2010-10-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9423848 Medline TA: Eur J Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 671-80 Citation Subset: IM |
Affiliation:
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Division of Laboratory Medicine, Department of Pathology of Microbiology, Nihon University School of Medicine, Itabashi-ku, Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aldosterone / blood* Case-Control Studies Echocardiography Female Genotype Haplotypes Humans Hypertension / blood*, genetics* Hypertrophy, Left Ventricular / blood*, genetics* Male Middle Aged Polymorphism, Genetic / genetics* Polymorphism, Single Nucleotide / genetics Progesterone Reductase / genetics* |
| Chemical | |
Reg. No./Substance:
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52-39-1/Aldosterone; EC 1.1.1.145/3 beta-hydroxysteroid dehydrogenase type II; EC 1.1.1.145/Progesterone Reductase |
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