title: Novel single nucleotide polymorphisms (SNPs) of CYP2W1 gene in Chinese Uygur and Han populations.
abstract: Cytochrome P450 2W1 (CYP2W1) is expressed specially in certain cancers and could metabolize some substances into cytotoxic antitumor drugs in Caucasian ethnic population. To investigate the genetic polymorphism of CYP2W1 in Chinese, all the nine exons and exon-intron junctions were sequenced by dideoxy chain termination method among 385 Chinese subjects (including 223 Han and 162 Uygur). The present results showed that 40 single nucleotide polymorphisms (SNPs) were detected (14 in the exons and 26 in the introns), 10 were novel variants of which in Chinese. There were 7 novel SNPs in the exons and other 3 novel SNPs in the introns. Four of the 6 novel non-synonymous variations in exons, 131T > C (Leu44Pro), 1289C > A (Ala88Glu), 2027G > A (Arg187Gln) and 5070C > T (Thr383Met) were computationally predicted to affect CYP2W1 protein function, in spite of these variants were heterozygotes. Moreover, the allele frequencies in 6 known SNPs including CYP2W1*2 (2008G > A) and CYP2W1*3 (173A > C) were analyzed, which were significantly lower in Chinese Han (2.9% and 0.0%, respectively) and Uygur (5.2% and 0.0%, respectively) individuals, than those reported previously in Caucasians (9.1% and 33.1%, respectively, P < 0.05). These data provide useful information on the pharmacogenetic studies of CYP2W1 among Chinese and other ethnic populations.
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Guang-Zhao
authors.initials: GZ
authors.lastname: Qi
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Xiao-Jie
authors.initials: XJ
authors.lastname: Miao
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Sheng-Ju
authors.initials: SJ
authors.lastname: Yin
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Ren
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China.
authors.forename: Ya-Qing
authors.initials: YQ
authors.lastname: Lou
authors.affiliation: Department of Pharmacology, Basic Medical School, Beijing (Peking) University, Beijing, China. Electronic address: ZhangGL168@bjmu.edu.cn.
authors.forename: Guo-Liang
authors.initials: GL
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D000072467:Cytochrome P450 Family 2; D005091:Exons; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D003577:Cytochrome P-450 Enzyme System; C509336:CYP2W1 protein, human; D000072467:Cytochrome P450 Family 2
keywords: CYP2W1; Chinese Han; Genetic polymorphisms; Novel single nucleotide polymorphisms (SNPs); Population; Uygur