Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature
Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature
复制标题
具有单一 PCOS 临床特征的女性多囊卵巢综合征易感性单核苷酸多态性
DOI：
10.1093/humrep/deu361
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发表时间：
2015-03-01
影响因子：
6.1
通讯作者：
Chen, Zi-Jiang
中科院分区：
文献类型：
--
作者：
Cui, Linlin;Li, Guangyu;Chen, Zi-Jiang
STUDY QUESTION: What is the direct genetic contribution of the polycystic ovary syndrome (PCOS) susceptibility single nucleotide polymorphisms (SNPs), identified by previous genome-wide association studies (GWAS) to the definitive clinical features of the syndrome?SUMMARY ANSWER: Each single PCOS clinical feature had a specific genetic association, and rs4385527 in the chromosome 9 open reading frame 3 (C9orf3) conferred a particular risk to the three defined PCOS clinical features in this study, which suggested its fundamental role in the etiology of PCOS.WHAT IS KNOWN ALREADY: PCOS is a heterogeneous disorder characterized by anovulation (OA), hyperandrogenism (HA) and polycystic ovary morphology (PCOM). Two previous GWAS in China have identified 15 independent susceptibility SNPs related to PCOS (PCOS-SNPs). However, little is known about the candidate gene of each clinical feature.STUDY DESIGN, SIZE, DURATION: Case-control study. Three independent groups of women were recruited from 2010 to 2012:746 subjects with OA only, 278 subjects with HA only and 536 subjects with PCOM only. A total of 1790 healthy women with none of the above pathological characteristics were also enrolled as control subjects during the same time period.PARTICIPANTS/MATERIALS, SETTING, METHODS: All participants were women of reproductive age. Genotype and allelic frequencies of 15 PCOS-SNPs were determined in all subjects using direct sequencing and Sequenom Arrays. The allelic frequencies of each case group were compared with the controls.MAIN RESULTS AND THE ROLE OF CHANCE: After adjustment for age and BM1, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (P-adjust < 0.01,
