Ethnic variation in CYP2A6*7, CYP2A6*8 and CYP2A6*10 as assessed with a novel haplotyping method
Ethnic variation in CYP2A6*7, CYP2A6*8 and CYP2A6*10 as assessed with a novel haplotyping method
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DOI：
10.1097/01213011-200503000-00008
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发表时间：
2005-03-01
影响因子：
2.6
通讯作者：
Tyndale, RF
中科院分区：
文献类型：
--
作者：
Mwenifumbo, JC;Myers, MG;Tyndale, RF
细胞色素P450 2A6是人类主要的尼古丁代谢酶，由高度多态性基因CYP2A6编码。CYP2A6*7、CYP2A6*8和CYP2A6*10是亚洲种族常见的变异等位基因。CYP2A6*7和CYP2A6*8等位基因分别含有一个非同义的单核苷酸多态性（SNP） 6558T > C和6600G > T，而CYP2A6*10单倍型等位基因同时含有这两个等位基因。我们已经开发了第一个单倍型分析；能够明确区分CYP2A6*7、CYP2A6*8和CYP2A6*10等位基因。采用新型单倍型分析方法，对加拿大华人（n = 112）、美国华人（n = 221）、台湾华人（n = 319）、韩裔美国人（n = 207）和日裔加拿大人（n = 64）人群以及高加索人（n = 110）和非裔加拿大人（n = 113）人群中这三种变异的等位基因频率进行了评估。我们的新方法显示CYP2A6*7和CYP2A6* 10的等位基因频率在亚洲人群中较高，CYP2A6*8的等位基因频率较低，但在高加索和非裔加拿大人群中等位基因频率无显著变化。药物遗传学与基因组学：189-192 (c) 2005。
Cytochrome P450 2A6 is the main human nicotine metabolizing enzyme coded for by a highly polymorphic gene, CYP2A6. CYP2A6*7, CYP2A6*8 and CYP2A6*10 are variant alleles common to Asian ethnicities. The CYP2A6*7 and CYP2A6*8 alleles each contain a non-synonymous single nucleotide polymorphism (SNP) 6558T > C and 6600G > T, respectively, whereas the CYP2A6*10 haplotype allele contains both. We have developed the first haplo-typing assay; it can unambiguously distinguish the CYP2A6*7 CYP2A6*8 and CYP2A6*10 alleles. The allele frequencies of these three variants were assessed using the novel haplotyping assay in Chinese-Canadian (n = 112), Chinese-American (n = 221), Taiwanese (n = 319), Korean-American (n = 207) and Japanese-Canadian (n = 64) populations, as well as in Caucasian (n = 110) and African-Canadian (n = 113) populations. Our new method demonstrated higher frequencies of CYP2A6*7 and CYP2A6* 10, and a lower frequency of CYP2A6*8 in Asian populations, but no significant change of allele frequencies in Caucasian or African-Canadian populations. Pharmacogenetics and Genomics 15:189-192 (c) 2005 Lippincott Williams & Wilkins.