NDLI: Cytochrome P450 2C9 (CYP2C9) polymorphisms in Chinese Li population.

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Cytochrome P450 2C9 (CYP2C9) polymorphisms in Chinese Li population.

Content Provider	Semantic Scholar
Author	Ding, Yipeng Yang, Danlei Zhou, Long He, Ping Yao, Jinjian Xie, Pingdong Lin, Daobo Sun, Dingwei Li, Quanni Geng, Tingting Jin, Tianbo
Copyright Year	2015
Abstract	BACKGROUND The frequencies of Cytochrome P450 2C9 (CYP2C9) genotypes were various between populations. The aim of this study was to investigate the frequencies of the major variants of the CYP2C9 in Chinese Li minority populations. METHODS The promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene was detected by DNA sequencing to investigate in 100 unrelated healthy Chinese Li subjects. The protein function prediction was used the online tools: Sorting Intolerant From Tolerant (SIFT) and Phenotyping Version 2 (PolyPhen-2). The comparison of CYP2C9 allele frequencies in different populations were analyzed by Chi-square (χ(2)) test. Linkage disequilibrium (LD) analysis was performed using Haploview software. RESULTS We identified 17 different CYP2C9 single nucleotide polymorphisms (SNPs) in the Li population, including two missense mutations (3549 G > A and 42614 A > C) and two silent mutations (3514 T > Cand 50298A > T). The protein function prediction revealed the two missense mutations result in protein damaging. In addition, we detected the allele frequencies of CYP2C91, CYP2C93 and CYP2C942 were 98%, 1%, and 1%, respectively. Finally, we compared three major allelic frequency (CYP2C91, CYP2C92, and CYP2C93) between Li and other populations. We found that our results were similar to East Asians and Africans.
File Format	PDF HTM / HTML
PubMed reference number	26885033
Journal	Medline
Volume Number	8
Issue Number	11
Alternate Webpage(s)	http://www.ijcem.com/files/ijcem0013615.pdf
Journal	International journal of clinical and experimental medicine
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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