Genetic Polymorphism Analysis of
            <i>CYP2C19</i>
            in Chinese Han Populations from Different Geographic Areas of Mainland China

Chen, Lingling; Qin, Shengying; Xie, Jing; Tang, Jie; Yang, Lun; Shen, Wen; Zhao, Xinzhi; Du, Jing; He, Guang; Gao, Feng; He, Lin; Xing, Qinghe

doi:10.2217/14622416.9.6.691

Cited by 93 publications

(65 citation statements)

References 32 publications

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“…Comparing allele frequencies of our Han samples (Beijing) with five other geographical subpopulations of Han Chinese (Hong Kong, Shanghai, Shantou, Shenyang and Xi'an), 10,12,20,35 we observed that the frequencies of three major alleles of CYP2C19 (*1, *2 and *3) are significantly (Po0.05) different from that of Shengyang and Xi'an subpopulations. Furthermore, four major alleles of CYP2D6 (*1, *2, *5 and *10) vary significantly (Po0.05) against the five other subpopulations.…”

Section: Q Zhou Et Almentioning

confidence: 67%

“…Furthermore, genetic compositions in Han Chinese are complex. Thus, although some previous work has been done, [10][11][12][20][21][22] it is quite worthwhile to investigate variants of the aforementioned two genes for Han Chinese. In our study, we intensively screened for genetic variants of CYP2C19 and CYP2D6 in Han Chinese, systematically analyzed the linkage disequilibrium (LD) and haplotype structure of these two genes, and computationally predicted the functions of novel polymorphisms.…”

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese

Zhou

Lin

et al. 2009

Pharmacogenomics J

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The cytochrome P450 2C19 and 2D6 enzymes are predominantly found in the human liver, and have important functions in the metabolism of many different classes of commonly used drugs. Their genetic polymorphisms give rise to both important interethnic variability in metabolism and the risk of treatment failure or dose-dependent drug toxicity. To investigate genetic polymorphisms in CYP2C19 and CYP2D6 genes in Han Chinese, we sequenced regions of the 5 0 flanking region, exon, intron and 3 0 UTR from these two genes using 100 unrelated healthy Chinese Hans. We detected 48 genetic variants in CYP2C19. A total of 15 of them are novel, including two polymorphisms in putative transcriptional factor-binding sites. The CYP2C19*1, *2, *3, *4, *17, *23, *24 and *25 alleles have frequencies of 67.5, 25.5, 2, 0.5, 3, 0.5, 0.5 and 0.5%, respectively. Based on computational predictions, three novel alleles (CYP2C19*23, *24 and *25) are deleterious mutations of the CYP2C19 protein. In CYP2D6, we identified 84 different polymorphisms, including 18 novel single-nucleotide polymorphisms. One novel polymorphism is located in a potential cis-regulatory element of the gene. The allele frequencies of CYP2D6*1, *2, *4, *5, *6, *10, *14, *21, *36, *41, *43, *52 and *71 are 18.5, 14, 1, 7, 0.5, 49, 1.5, 0.5, 1, 4, 0.5, 1 and 1.5%, respectively. The occurrence of CYP2D6 duplication is 0.5%. The novel CYP2D6*71 is anticipated as a putative poor metabolizer allele. We also performed linkage disequilibrium analysis and observed strong linkage disequilibrium spanning of the CYP2C19 and CYP2D6 regions. In addition, network analysis showed that 15 haplotypes of CYP2C19 and 22 of CYP2D6 are classified into five and three groups, respectively. Comparisons of allele frequency distributions revealed significant interethnic and intraethnic differences in these two genes. In conclusion, this study revealed that CYP2C19 and CYP2D6 have a complicated allele composition and distinct frequency distribution in Han Chinese.

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Section: Q Zhou Et Almentioning

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese

Zhou

Lin

et al. 2009

Pharmacogenomics J

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“…Our previous samples were recruited from Shanghai, the southern part of China, whereas the samples in the present study were collected from Xi'an, the northern part of China. Many studies found that a cryptic borderline was observable between the Southern Han and the Northern Han samples [17][18][19]. Thus, population regions may influence the data.…”

Section: Controlmentioning

confidence: 99%

Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women

Zhang

et al. 2013

J Assist Reprod Genet

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Background Polycystic ovary syndrome (PCOS) is a common complex genetic endocrinopathy. It has high heritability, and twin studies indicate that it is a complex polygenic disorder. Searching for major genes of PCOS is crucial to clarify its molecular pathogenesis. A previous genome-wide association study in Chinese women with PCOS identified a region on chromosome 2p16.3 that encodes the follicle-stimulating hormone receptor (FSHR) genes as a reproducible PCOS susceptibility locus. In the present study, we performed a replication analysis of the association between two common variants of the FSHR gene and PCOS in Northern Chinese Han women. Results We recruited 384 unrelated PCOS patients and 768 healthy individuals from the Shaanxi province in the northern part of China. Two polymorphisms (Ala307Thr and Ser680Asn) of the FSHR gene and the clinical characteristics of the study subjects were analyzed in the case-control sample. The frequency of FSHR Ala307Thr and Ser680Asn variants along with the haplotype was not significantly different between the PCOS patients and the controls; however, the Ser680 variants may be associated with high levels of FSH and low E2 levels. Conclusion The variant of Ser680 was not associated with PCOS but it may be related to high FSH levels. The present study suggests that the two variants of the FSHR gene are not a causative factor of PCOS in Northern Chinese Han women.

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“…Pronounced ethnic differences exist in the frequencies of the non-functional alleles: a low frequency of up to 5% in the Caucasian and African populations, higher in Oriental populations (23%). CYP2C19*2 and CYP2C19*3 are together responsible for the majority of PM alleles, of which CYP2C19*3 is mainly found in Asians (Chen et al, 2008;Xie et al, 2001). …”

Section: Cyp2c19mentioning

confidence: 99%

Forensic Pharmacogenetics

Pelotti¹,

Bini²

2011

Forensic Medicine - From Old Problems to New Challenges

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Genetic Polymorphism Analysis of CYP2C19 in Chinese Han Populations from Different Geographic Areas of Mainland China

Cited by 93 publications

References 32 publications

Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese

Genetic polymorphism, linkage disequilibrium, haplotype structure and novel allele analysis of CYP2C19 and CYP2D6 in Han Chinese

Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women

Forensic Pharmacogenetics

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