Muzhapaer Abudukeremu, Aisikaer Ayoufu, Adila Tuerhong, Xuelaiti Paizula, Jiang-Hua Ou
{"title":"中国新疆汉族和维吾尔族乳腺癌患者 CYP2D6 和 CYP2C19 基因多态性的分布情况","authors":"Muzhapaer Abudukeremu, Aisikaer Ayoufu, Adila Tuerhong, Xuelaiti Paizula, Jiang-Hua Ou","doi":"10.1515/biol-2022-0728","DOIUrl":null,"url":null,"abstract":"The aim of this study was to investigate the frequency distribution of the cytochrome P450 (<jats:italic>CYP450</jats:italic>) enzymes, <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic>, and the form of tamoxifen metab<jats:underline>olisat</jats:underline>ion in premenopausal patients with breast cancer in the Han and Uygur ethnic groups of Xinjiang to guide rational clinical drug use. A total of 125 Han patients and 121 Uygur patients with premenopausal hormone-receptor-positive breast cancer treated at the Xinjiang Uygur Autonomous Region Cancer Hospital between 1 June 2011 and 1 December 2013 were selected. The common mutation sites in <jats:italic>CYP450</jats:italic> were analysed using TaqMan® minor groove binder technology. Genetic testing was performed to determine other metabolic types of tamoxifen, and the genotypes and metabolic types were compared using a Chi-squared test. Between the Han and Uygur groups, there were significant differences in the frequencies of the <jats:italic>CYP2D6</jats:italic> (*10/*10) and <jats:italic>CYP2C19</jats:italic> (*1/*1) genotypes, with <jats:italic>P-</jats:italic>values of 0.002 and 0.015, respectively. Genotypes of <jats:italic>CYP2D6</jats:italic> (*1/*1), <jats:italic>CYP2D6</jats:italic> (*1/*5), <jats:italic>CYP2D6</jats:italic> (*5/*5), <jats:italic>CYP2D6</jats:italic> (*5/*10) and <jats:italic>CYP2C19</jats:italic> (*3/*3) were expressed in the two patient groups, and the difference was not statistically significant (<jats:italic>P</jats:italic> > 0.05). In the Han patients, the proportions of extensive, intermediate and poor metabolisers of tamoxifen were 72, 24 and 4%, respectively, whereas those in the Uygur patients were 76.9, 17.4 and 5.7%, respectively, with no significant difference (<jats:italic>P</jats:italic> > 0.05). In conclusion, There were partial differences in the <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic> gene polymorphisms of <jats:italic>CYP450</jats:italic> between the Han and Uygur patients with premenopausal breast cancer, but there was no significant difference between the <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic> phenotypes. Further research is needed to determine the relationship between the enzyme genetic differences of <jats:italic>CYP450</jats:italic> and the pharmacokinetics and efficacy of tamoxifen. Although there were some differences in genotypes, these did not result in differences in the predicted tamoxifen metabolisation phenotype between the Han and Uygur patients with breast cancer. Therefore, the doses should be adjusted according to the individual genotype data.","PeriodicalId":19605,"journal":{"name":"Open Life Sciences","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Distribution of CYP2D6 and CYP2C19 gene polymorphisms in Han and Uygur populations with breast cancer in Xinjiang, China\",\"authors\":\"Muzhapaer Abudukeremu, Aisikaer Ayoufu, Adila Tuerhong, Xuelaiti Paizula, Jiang-Hua Ou\",\"doi\":\"10.1515/biol-2022-0728\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The aim of this study was to investigate the frequency distribution of the cytochrome P450 (<jats:italic>CYP450</jats:italic>) enzymes, <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic>, and the form of tamoxifen metab<jats:underline>olisat</jats:underline>ion in premenopausal patients with breast cancer in the Han and Uygur ethnic groups of Xinjiang to guide rational clinical drug use. A total of 125 Han patients and 121 Uygur patients with premenopausal hormone-receptor-positive breast cancer treated at the Xinjiang Uygur Autonomous Region Cancer Hospital between 1 June 2011 and 1 December 2013 were selected. The common mutation sites in <jats:italic>CYP450</jats:italic> were analysed using TaqMan® minor groove binder technology. Genetic testing was performed to determine other metabolic types of tamoxifen, and the genotypes and metabolic types were compared using a Chi-squared test. Between the Han and Uygur groups, there were significant differences in the frequencies of the <jats:italic>CYP2D6</jats:italic> (*10/*10) and <jats:italic>CYP2C19</jats:italic> (*1/*1) genotypes, with <jats:italic>P-</jats:italic>values of 0.002 and 0.015, respectively. Genotypes of <jats:italic>CYP2D6</jats:italic> (*1/*1), <jats:italic>CYP2D6</jats:italic> (*1/*5), <jats:italic>CYP2D6</jats:italic> (*5/*5), <jats:italic>CYP2D6</jats:italic> (*5/*10) and <jats:italic>CYP2C19</jats:italic> (*3/*3) were expressed in the two patient groups, and the difference was not statistically significant (<jats:italic>P</jats:italic> > 0.05). In the Han patients, the proportions of extensive, intermediate and poor metabolisers of tamoxifen were 72, 24 and 4%, respectively, whereas those in the Uygur patients were 76.9, 17.4 and 5.7%, respectively, with no significant difference (<jats:italic>P</jats:italic> > 0.05). In conclusion, There were partial differences in the <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic> gene polymorphisms of <jats:italic>CYP450</jats:italic> between the Han and Uygur patients with premenopausal breast cancer, but there was no significant difference between the <jats:italic>CYP2D6</jats:italic> and <jats:italic>CYP2C19</jats:italic> phenotypes. Further research is needed to determine the relationship between the enzyme genetic differences of <jats:italic>CYP450</jats:italic> and the pharmacokinetics and efficacy of tamoxifen. Although there were some differences in genotypes, these did not result in differences in the predicted tamoxifen metabolisation phenotype between the Han and Uygur patients with breast cancer. Therefore, the doses should be adjusted according to the individual genotype data.\",\"PeriodicalId\":19605,\"journal\":{\"name\":\"Open Life Sciences\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-04-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Open Life Sciences\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1515/biol-2022-0728\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Open Life Sciences","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/biol-2022-0728","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOLOGY","Score":null,"Total":0}
Distribution of CYP2D6 and CYP2C19 gene polymorphisms in Han and Uygur populations with breast cancer in Xinjiang, China
The aim of this study was to investigate the frequency distribution of the cytochrome P450 (CYP450) enzymes, CYP2D6 and CYP2C19, and the form of tamoxifen metabolisation in premenopausal patients with breast cancer in the Han and Uygur ethnic groups of Xinjiang to guide rational clinical drug use. A total of 125 Han patients and 121 Uygur patients with premenopausal hormone-receptor-positive breast cancer treated at the Xinjiang Uygur Autonomous Region Cancer Hospital between 1 June 2011 and 1 December 2013 were selected. The common mutation sites in CYP450 were analysed using TaqMan® minor groove binder technology. Genetic testing was performed to determine other metabolic types of tamoxifen, and the genotypes and metabolic types were compared using a Chi-squared test. Between the Han and Uygur groups, there were significant differences in the frequencies of the CYP2D6 (*10/*10) and CYP2C19 (*1/*1) genotypes, with P-values of 0.002 and 0.015, respectively. Genotypes of CYP2D6 (*1/*1), CYP2D6 (*1/*5), CYP2D6 (*5/*5), CYP2D6 (*5/*10) and CYP2C19 (*3/*3) were expressed in the two patient groups, and the difference was not statistically significant (P > 0.05). In the Han patients, the proportions of extensive, intermediate and poor metabolisers of tamoxifen were 72, 24 and 4%, respectively, whereas those in the Uygur patients were 76.9, 17.4 and 5.7%, respectively, with no significant difference (P > 0.05). In conclusion, There were partial differences in the CYP2D6 and CYP2C19 gene polymorphisms of CYP450 between the Han and Uygur patients with premenopausal breast cancer, but there was no significant difference between the CYP2D6 and CYP2C19 phenotypes. Further research is needed to determine the relationship between the enzyme genetic differences of CYP450 and the pharmacokinetics and efficacy of tamoxifen. Although there were some differences in genotypes, these did not result in differences in the predicted tamoxifen metabolisation phenotype between the Han and Uygur patients with breast cancer. Therefore, the doses should be adjusted according to the individual genotype data.
期刊介绍:
Open Life Sciences (previously Central European Journal of Biology) is a fast growing peer-reviewed journal, devoted to scholarly research in all areas of life sciences, such as molecular biology, plant science, biotechnology, cell biology, biochemistry, biophysics, microbiology and virology, ecology, differentiation and development, genetics and many others. Open Life Sciences assures top quality of published data through critical peer review and editorial involvement throughout the whole publication process. Thanks to the Open Access model of publishing, it also offers unrestricted access to published articles for all users.