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Titolo:
Haplotypes of aldosterone synthase (CYP11132) gene in the general population of Japan: The Ohasama study
Autore:
Matsubara, M; Omori, F; Fujita, S; Metoki, E; Kikuya, M; Fujiwara, T; Araki, T; Imai, Y;
Indirizzi:
Tohoku Univ, Grad Sch Med & Pharmaceut Sci, Dept Clin Pharmacol & Therapeut, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Med, Div Nephrol Endocrinol & Vasc Med,Aoba Ku,Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku,Sendai, Miyagi 9808574, Japan
Titolo Testata:
CLINICAL AND EXPERIMENTAL HYPERTENSION
fascicolo: 8, volume: 23, anno: 2001,
pagine: 603 - 610
SICI:
1064-1963(200111)23:8<603:HOAS(G>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
HOME BLOOD-PRESSURE; ESSENTIAL-HYPERTENSION; BETA-SUBUNIT; 11-BETA-HYDROXYLASE; POLYMORPHISM; COMMUNITY; CHANNEL;
Keywords:
aldosterone synthase; mineralocorticoid; gene to gene disequilibrium; Ohasama study; hypertension;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Araki, T Tohoku Univ, Grad Sch Med & Pharmaceut Sci, Dept Clin Pharmacol &Therapeut, Aoba Ku, 1-1 Seiryo Cho, Sendai, Miyagi 9808574, Japan Tohoku Univ 1-1 Seiryo Cho Sendai Miyagi Japan 9808574 574, Japan
Citazione:
M. Matsubara et al., "Haplotypes of aldosterone synthase (CYP11132) gene in the general population of Japan: The Ohasama study", CLIN EXP HY, 23(8), 2001, pp. 603-610

Abstract

Since the identification of a chimeric aldosterone synthase which induces mendelian hypertension, polymorphisms in aldosterone synthase (CYP11B2) hasbeen one of major targets for molecular analyses in association with hypertension. To date, four polymorphic variants of CYP11B2, -344T/C at promoterregion, a gene conversion in intron 2, 2713A/G (in exon 3) which converts from Lys to Arg at codon 173 (K173R), and 4986T/C (in exon7) which convertsfrom Val to Ala at codon 386 (V386A), have been identified in Caucasian population. Then, linkage disequilibrium between -344T/C polymorphism and a gene conversion in intron 2 or K173R mutation has been described, suggestingthe presence of genetic haplotypes in Caucasians. Since the presence of a gene conversion in intron 2 or V386A mutation was still unknown in the Japanese population, all these polymorphisms were examined together to determine the CYP11B2 haplotypes of Japanese, using DNA samples from 1290 participants of the Ohasama study, who represent the general population of a rural community of northern Japan. Molecular analyses demonstrated the presence ofa gene conversion of intron 2, but the absence of V386A mutation in Japanese population. The complete linkage disequilibrium between -344T/C polymorphism and K173R mutation was noted. Although -344T allele was linked either with a gene conversion in intron 2 or with normal intron 2, -344C allele was completely linked with normal intron 2. These results indicate the presence of 3 allelic haplotypes of CYP11B2, -344C with normal intron 2 and 173R,-344T with normal intron 2 and 173K, and -344T with converted intron 2 and173K, in the general Japanese population. The frequency (total 1.0) was 0.35, 0.53, and 0.12, respectively. The presence of allelic haplotypes is considered to be an additional genetic information to individual polymorphism of CYP11B2 to determine the linkage between CYP11B2 polymorphisms and hypertension.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 22:37:41