Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

被引：595

作者：

Chen, Zi-Jiang ^{[1
,2
]}

Zhao, Han ^{[1
,2
]}

He, Lin ^{[3
,4
,5
]}

Shi, Yuhua ^{[1
,2
]}

Qin, Yingying ^{[1
,2
]}

Shi, Yongyong ^{[4
]}

Li, Zhiqiang ^{[4
]}

You, Li ^{[1
,2
]}

Zhao, Junli ^{[6
]}

Liu, Jiayin ^{[7
]}

Liang, Xiaoyan ^{[8
]}

Zhao, Xiaoming ^{[9
]}

Zhao, Junzhao ^{[10
]}

Sun, Yingpu ^{[11
]}

Zhang, Bo ^{[12
]}

Jiang, Hong

Zhao, Dongni ^{[13
]}

Bian, Yuehong ^{[1
,2
]}

Gao, Xuan ^{[1
,2
]}

Geng, Ling ^{[1
,2
]}

Li, Yiran ^{[14
,15
]}

Zhu, Dongyi ^{[16
]}

Sun, Xiuqin ^{[17
]}

Xu, Jin-e ^{[18
]}

Hao, Cuifang ^{[19
]}

Ren, Chun-e ^{[15
]}

Zhang, Yajie ^{[20
]}

Chen, Shiling ^{[21
]}

Zhang, Wei ^{[22
]}

Yang, Aijun ^{[23
]}

Yan, Junhao ^{[1
,2
]}

Li, Yuan ^{[1
,2
]}

Ma, Jinlong ^{[1
,2
]}

Zhao, Yueran ^{[1
,2
]}

机构：

[1] Shandong Univ, Shandong Prov Hosp, Ctr Reprod Med, Jinan 250100, Shandong, Peoples R China

[2] Shandong Key Lab Reprod Med, Jinan, Shandong, Peoples R China

[3] Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China

[4] Shanghai Jiao Tong Univ, Minist Educ, Key Lab Genet Dev & Neuropsychiat Disorders, Bio X Ctr, Shanghai 200030, Peoples R China

[5] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai, Peoples R China

[6] Ningxia Med Univ, Affiliated Hosp, Ningxia, Peoples R China

[7] Nanjing Med Univ, Affiliated Hosp 1, Nanjing, Jiangsu, Peoples R China

[8] Sun Yat Sen Univ, Affiliated Hosp 6, Guangzhou, Guangdong, Peoples R China

[9] Shanghai Jiao Tong Univ, Renji Hosp, Shanghai 200030, Peoples R China

[10] Wenzhou Med Coll, Affiliated Hosp 1, Wenzhou, Zhejiang, Peoples R China

[11] Zhengzhou Univ, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China

[12] Maternal & Child Hlth Hosp Guangxi, Guangxi, Peoples R China

[13] China Med Univ, Shengjing Hosp, Liaoning, Peoples R China

[14] Qingdao Women & Children Med Healthcare Ctr, Qingdao, Shandong, Peoples R China

[15] Affiliated Hosp, Weifang Med Coll, Weifang, Shandong, Peoples R China

[16] Linyi Peoples Hosp, Linyi, Shandong, Peoples R China

[17] Shandong Jingning First Peoples Hosp, Jingning, Shandong, Peoples R China

[18] Qingdao Univ, Coll Med, Affiliated Hosp, Qingdao, Shandong, Peoples R China

[19] Yantai Yuhuangding Hosp, Yantai, Shandong, Peoples R China

[20] Jinan Hlth Inst Matern & Infant, Jinan, Shandong, Peoples R China

[21] Nanfang Hosp, Nanfang, Guangdong, Peoples R China

[22] Fudan Univ, Obstet & Gynecol Hosp, Shanghai 200433, Peoples R China

[23] Jining Med Coll, Affiliated Hosp, Jining, Shandong, Peoples R China

来源：

NATURE GENETICS | 2011年 / 43卷 / 01期

基金：

中国国家自然科学基金;

关键词：

HORMONE RECEPTOR GENE; CHINESE WOMEN; POLYMORPHISMS; MUTATIONS; DISEASE; GLUCOSE; METAANALYSIS; PREVALENCE; PROMOTER; FAILURE;

D O I：

10.1038/ng.732

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P-meta = 7.55 x 10(-21), odds ratio (OR) 0.71); 2p21 (rs13429458, P-meta = 1.73 x 10(-23), OR 0.67); and 9q33.3 (rs2479106, P-meta = 8.12 x 10(-19), OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.

引用

页码：55 / U75

页数：6

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