Arg257Cys polymorphism of CYP2A13 in a Chinese population.
BACKGROUND
Human cytochrome P450 2A13 (CYP2A13) is involved in the activation of numerous toxicants and carcinogens, especially in the metabolic activation of 4-(methyl-nitrosamino)-1-(3-pyridyl)-1-butanone (NNK), a major tobacco-specific carcinogen. A functionally significant coding single nucleotide polymorphism (C3375T) in exon 5 of CYP2A13, which results in an amino acid substitution of Arg 257 to Cys, has been recently reported to exist in White, Black, Hispanic, and Asian individuals, with the variant 3375T allele frequencies being 1.9%, 14.4%, 5.8% and 7.7%, respectively. Since genetic background differs between ethnic groups, our present study aims to characterize the CYP2A13 Arg257Cys polymorphism in Chinese.


METHODS
258 healthy Chinese Han volunteers were involved in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was employed to genotype for the Arg257Cys polymorphism.


RESULTS
Of all the 258 subjects, 27 (10.5%) heterozygotes and 1 (0.4%) homozygote for the 257Cys allele were detected. The frequency of the variant 257Cys allele in this Chinese population was 5.6% (95%CI: 4.2-7.0%).


CONCLUSIONS
The CYP2A13 Arg257Cys variant represents a common polymorphism in Chinese, with the 257Cys allele frequency being similar to the Hispanic and Asian groups, but significantly lower than the Black.
Cheng
Xin-Yuan
XY
College of Chemistry and Chemical Engineer, Central South University, Changsha, Hunan 410083, People's Republic of China.
Chen
Guo-Lin
GL
Zhang
Wei-Xia
WX
Zhou
Gan
G
Wang
Dan
D
Zhou
Hong-Hao
HH
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001120:Arginine / Q000235:genetics*; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
D001120:Arginine; D001189:Aryl Hydrocarbon Hydroxylases; C414206:CYP2A13 protein, human; D003545:Cysteine