Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population.

doi:10.2133/dmpk.20.24

中山醫學大學機構典藏 CSMUIR > 口腔醫學院 > 牙醫學系暨碩士班 > 期刊論文 > Item 310902500/15763

Please use this identifier to cite or link to this item: https://ir.csmu.edu.tw:8080/ir/handle/310902500/15763

Title:	Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population.
Authors:	Soyama, A Saito, Y Hanioka, N Maekawa, K Komamura, Komamura K Kamakura, S Kitakaze, M Tomoike, H Ueno, K Goto, Y Kimura, H Katoh, M Sugai, K Saitoh, O Kawai, M Ohnuma, T Ohtsuki, T Suzuki, C Minami, N Kamatani, N Ozawa, S Sawada, J.
Contributors:	醫學研究所
Keywords:	CYP1A2;SNP;haplotype;Japanese
Date:	2005-02-20
Issue Date:	2016-08-11T07:00:06Z (UTC)
ISSN:	1347-4367
Abstract:	In order to identify genetic polymorphisms and haplotype frequencies of CYP1A2 in a Japanese population, the enhancer and promoter regions, all the exons with their surrounding introns, and intron 1 were sequenced from genomic DNA from 250 Japanese subjects. Thirty-three polymorphisms were found, including 13 novel ones: 2 in the enhancer region, 5 in the exons, and 6 in the introns. The most common single nucleotide polymorphism (SNP) was -163C>A (CYP1A21F allele) with a 0.628 frequency. In addition to six previously reported non-synonymous SNPs, three novel ones, 125C>G (P42R, CYP1A215 allele, MPJ6_1A2032), 1130G>A (R377Q, 16 allele, MPJ6_1A2033), and 1367G>A (R456H, 8 allele, MPJ6_1A2019), were found with frequencies of 0.002, 0.002, and 0.004, respectively. No polymorphism was found in the known nuclear transcriptional factor-binding sites in the enhancer region. Based on linkage disequilibrium analysis, the CYP1A2 gene was analyzed as one haplotype block. Using the 33 detected polymorphisms, 14 haplotypes were unambiguously identified, and 17 haplotypes were inferred by aid of an expectation-maximization-based program. Among them, the second major haplotype CYP1A21L is composed of -3860G>A (1C allele), -2467delT (1D allele), and -163C>A (1F allele). Network analysis suggested that relatively rare haplotypes were derived from three major haplotypes, 1A, 1M, and *1N in most cases. Our findings provide fundamental and useful information for genotyping CYP1A2 in the Japanese, and probably Asian populations.
URI:	http://dx.doi.org/10.2133/dmpk.20.24 https://ir.csmu.edu.tw:8080/ir/handle/310902500/15763
Relation:	Drug Metab Pharmacokinet. 2005 Feb;20(1):24-33.
Appears in Collections:	[牙醫學系暨碩士班] 期刊論文

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