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Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population
To date, eleven genome-wide significant (GWS) loci (P < 5×10(−8)) for polycystic ovary syndrome (PCOS) have been identified through genome-wide association studies (GWAS). Some of the risk loci have been selected for replications and validated in multiple ethnicities, however, few previous studie...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608705/ https://www.ncbi.nlm.nih.gov/pubmed/26474478 http://dx.doi.org/10.1371/journal.pone.0140695 |
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author | Xu, Yuping Li, Zhiqiang Ai, Fenglian Chen, Jianhua Xing, Qiong Zhou, Ping Wei, Zhaolian Shi, Yongyong He, Xiao-Jin Cao, Yunxia |
author_facet | Xu, Yuping Li, Zhiqiang Ai, Fenglian Chen, Jianhua Xing, Qiong Zhou, Ping Wei, Zhaolian Shi, Yongyong He, Xiao-Jin Cao, Yunxia |
author_sort | Xu, Yuping |
collection | PubMed |
description | To date, eleven genome-wide significant (GWS) loci (P < 5×10(−8)) for polycystic ovary syndrome (PCOS) have been identified through genome-wide association studies (GWAS). Some of the risk loci have been selected for replications and validated in multiple ethnicities, however, few previous studies investigated all loci. Scanning all the GWAS variants would demonstrate a more informative profile of variance they explained. Thus, we analyzed all the 17 single nucleotide polymorphisms (SNPs) mapping to the 11 GWAS loci in an independent sample set of 800 Chinese subjects with PCOS and 1110 healthy controls systematically. Variants of rs3802457 in C9orf3 locus (P = 5.99×10(−4)) and rs13405728 in LHCGR locus (P = 3.73×10(−4)) were significantly associated with PCOS after the strict Bonferroni correction in our data set. The further haplotype analysis indicated that in the block of C9orf3 gene (rs4385527 and rs3802457), GA haplotype played a protective role in PCOS (8.7 vs 5.0, P = 9.85×10(−6), OR = 0.548, 95%CI = 0.418–0.717), while GG haplotype was found suffering from an extraordinarily increased risk of PCOS (73.6% vs79.2%, P = 3.41×10(−5), OR = 1.394, 95%CI = 1.191–1.632). Moreover, the directions of effects for all SNPs were consistent with previous GWAS reports (P = 1.53×10(−5)). Polygenic score analysis demonstrated that these 17 SNPs have a significant capacity on predicting case-control status in our samples (P = 7.17×10(−9)), meanwhile all these gathered 17 SNPs explained about 2.40% of variance. Our findings supported that C9orf3 and LHCGR loci variants were vital susceptibility of PCOS. |
format | Online Article Text |
id | pubmed-4608705 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-46087052015-10-29 Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population Xu, Yuping Li, Zhiqiang Ai, Fenglian Chen, Jianhua Xing, Qiong Zhou, Ping Wei, Zhaolian Shi, Yongyong He, Xiao-Jin Cao, Yunxia PLoS One Research Article To date, eleven genome-wide significant (GWS) loci (P < 5×10(−8)) for polycystic ovary syndrome (PCOS) have been identified through genome-wide association studies (GWAS). Some of the risk loci have been selected for replications and validated in multiple ethnicities, however, few previous studies investigated all loci. Scanning all the GWAS variants would demonstrate a more informative profile of variance they explained. Thus, we analyzed all the 17 single nucleotide polymorphisms (SNPs) mapping to the 11 GWAS loci in an independent sample set of 800 Chinese subjects with PCOS and 1110 healthy controls systematically. Variants of rs3802457 in C9orf3 locus (P = 5.99×10(−4)) and rs13405728 in LHCGR locus (P = 3.73×10(−4)) were significantly associated with PCOS after the strict Bonferroni correction in our data set. The further haplotype analysis indicated that in the block of C9orf3 gene (rs4385527 and rs3802457), GA haplotype played a protective role in PCOS (8.7 vs 5.0, P = 9.85×10(−6), OR = 0.548, 95%CI = 0.418–0.717), while GG haplotype was found suffering from an extraordinarily increased risk of PCOS (73.6% vs79.2%, P = 3.41×10(−5), OR = 1.394, 95%CI = 1.191–1.632). Moreover, the directions of effects for all SNPs were consistent with previous GWAS reports (P = 1.53×10(−5)). Polygenic score analysis demonstrated that these 17 SNPs have a significant capacity on predicting case-control status in our samples (P = 7.17×10(−9)), meanwhile all these gathered 17 SNPs explained about 2.40% of variance. Our findings supported that C9orf3 and LHCGR loci variants were vital susceptibility of PCOS. Public Library of Science 2015-10-16 /pmc/articles/PMC4608705/ /pubmed/26474478 http://dx.doi.org/10.1371/journal.pone.0140695 Text en © 2015 Xu et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Xu, Yuping Li, Zhiqiang Ai, Fenglian Chen, Jianhua Xing, Qiong Zhou, Ping Wei, Zhaolian Shi, Yongyong He, Xiao-Jin Cao, Yunxia Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title | Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title_full | Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title_fullStr | Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title_full_unstemmed | Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title_short | Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population |
title_sort | systematic evaluation of genetic variants for polycystic ovary syndrome in a chinese population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608705/ https://www.ncbi.nlm.nih.gov/pubmed/26474478 http://dx.doi.org/10.1371/journal.pone.0140695 |
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