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Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population

BACKGROUND: The CYP17A1 gene encodes for cytochrome P450 enzyme CYP17A1, which is involved with the steroidogenic pathway including mineralocorticoids. The CYP17A1 polymorphisms might affect enzyme activity, then leading to a state of mineralocorticoid 11-deoxycorticosterone excess characterized by...

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Autores principales: Li, Qian, Gao, Tangxin, Yuan, Yuncang, Wu, Yanrui, Huang, Qionglin, Xie, Fei, Ran, Pengzhan, Sun, Lijuan, Xiao, Chunjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450854/
https://www.ncbi.nlm.nih.gov/pubmed/28537227
http://dx.doi.org/10.12659/MSM.902109
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author Li, Qian
Gao, Tangxin
Yuan, Yuncang
Wu, Yanrui
Huang, Qionglin
Xie, Fei
Ran, Pengzhan
Sun, Lijuan
Xiao, Chunjie
author_facet Li, Qian
Gao, Tangxin
Yuan, Yuncang
Wu, Yanrui
Huang, Qionglin
Xie, Fei
Ran, Pengzhan
Sun, Lijuan
Xiao, Chunjie
author_sort Li, Qian
collection PubMed
description BACKGROUND: The CYP17A1 gene encodes for cytochrome P450 enzyme CYP17A1, which is involved with the steroidogenic pathway including mineralocorticoids. The CYP17A1 polymorphisms might affect enzyme activity, then leading to a state of mineralocorticoid 11-deoxycorticosterone excess characterized by hypertension, suppressed plasma renin activity, and low aldosterone concentrations. The aim of this study was to investigate the contribution of CYP17A1 polymorphisms in inducing the susceptibility to essential hypertension among the Southwest Han Chinese population. MATERIAL/METHODS: Eight single nucleotide polymorphisms of CYP17A1 were genotyped in a case-control study for samples by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The polymorphisms rs11191548 and rs4919687 were significantly associated with hypertension risk, which was confirmed by systolic and diastolic blood pressure distribution analyses between different genotype groups, and these two polymorphisms were found in linkage disequilibrium. The rs4919687 polymorphism was estimated to cause the destruction of exonic splicing silencer (ESR and Motif 3) sites and to transform the transcription factor AREB6 binding site, respectively, in the bioinformatics analyses. The haplotypes rs4919686A-rs3740397G -rs4919687C-rs743572C-rs11191548C and rs4919686A-rs3740397G-rs4919687T-rs743572C- rs11191548T were found to be susceptible to essential hypertension. CONCLUSIONS: Our findings suggest that the CYP17A1 polymorphisms could be a genetic risk factor for essential hypertension among the Yunnan Han Chinese population, which would have implications for the treatment of this complex disorder.
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spelling pubmed-54508542017-06-08 Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population Li, Qian Gao, Tangxin Yuan, Yuncang Wu, Yanrui Huang, Qionglin Xie, Fei Ran, Pengzhan Sun, Lijuan Xiao, Chunjie Med Sci Monit Molecular Biology BACKGROUND: The CYP17A1 gene encodes for cytochrome P450 enzyme CYP17A1, which is involved with the steroidogenic pathway including mineralocorticoids. The CYP17A1 polymorphisms might affect enzyme activity, then leading to a state of mineralocorticoid 11-deoxycorticosterone excess characterized by hypertension, suppressed plasma renin activity, and low aldosterone concentrations. The aim of this study was to investigate the contribution of CYP17A1 polymorphisms in inducing the susceptibility to essential hypertension among the Southwest Han Chinese population. MATERIAL/METHODS: Eight single nucleotide polymorphisms of CYP17A1 were genotyped in a case-control study for samples by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The polymorphisms rs11191548 and rs4919687 were significantly associated with hypertension risk, which was confirmed by systolic and diastolic blood pressure distribution analyses between different genotype groups, and these two polymorphisms were found in linkage disequilibrium. The rs4919687 polymorphism was estimated to cause the destruction of exonic splicing silencer (ESR and Motif 3) sites and to transform the transcription factor AREB6 binding site, respectively, in the bioinformatics analyses. The haplotypes rs4919686A-rs3740397G -rs4919687C-rs743572C-rs11191548C and rs4919686A-rs3740397G-rs4919687T-rs743572C- rs11191548T were found to be susceptible to essential hypertension. CONCLUSIONS: Our findings suggest that the CYP17A1 polymorphisms could be a genetic risk factor for essential hypertension among the Yunnan Han Chinese population, which would have implications for the treatment of this complex disorder. International Scientific Literature, Inc. 2017-05-24 /pmc/articles/PMC5450854/ /pubmed/28537227 http://dx.doi.org/10.12659/MSM.902109 Text en © Med Sci Monit, 2017 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Molecular Biology
Li, Qian
Gao, Tangxin
Yuan, Yuncang
Wu, Yanrui
Huang, Qionglin
Xie, Fei
Ran, Pengzhan
Sun, Lijuan
Xiao, Chunjie
Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title_full Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title_fullStr Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title_full_unstemmed Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title_short Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population
title_sort association of cyp17a1 genetic polymorphisms and susceptibility to essential hypertension in the southwest han chinese population
topic Molecular Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450854/
https://www.ncbi.nlm.nih.gov/pubmed/28537227
http://dx.doi.org/10.12659/MSM.902109
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