Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
| Autor: | Jinlong Ma, Junli Zhao, Jiangtao Zhang, Aijun Yang, Di Wu, Ying Qin, Chunling Wan, Changming Zhang, Jianhua Chen, Yunxia Cao, Junzhao Zhao, Junhao Yan, Xiujuan Qi, Qingzhong Wang, Baojie Li, Zi-Jiang Chen, Cuifang Hao, Yiwen Zhang, Yueran Zhao, Ying Yan, Yun Sun, Jiayin Liu, Xuan Gao, Dongzi Yang, Yongyong Shi, Wenjin Li, Ling Geng, Juanzi Shi, Weidong Li, Yingying Qin, Xiaoyan Liang, Aiping Zhang, Dongni Zhao, Jin-e Xu, Hong Jiang, Lin He, Yuhua Shi, Tao Li, Xiaoming Zhao, Jing Yang, Chun-e Ren, Dongyi Zhu, Xiu-qing Ju, Li You, Han Zhao, Jiawei Shen, Shuhua Zou, Xiuqing Li, Wei Zhang, Zhiqiang Li, Bo Zhang, Guang He, Yajie Zhang |
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| Rok vydání: | 2012 |
| Předmět: |
Candidate gene
Genotype endocrine system diseases Genome-wide association study Type 2 diabetes Validation Studies as Topic Biology Polymorphism Single Nucleotide Cohort Studies Asian People Gene Frequency Meta-Analysis as Topic Polymorphism (computer science) Genetics medicine Humans Genetic Predisposition to Disease Allele frequency Case-control study nutritional and metabolic diseases medicine.disease Polycystic ovary Diabetes Mellitus Type 2 Genetic Loci Case-Control Studies Receptors FSH Female Genome-Wide Association Study Polycystic Ovary Syndrome |
| Zdroj: | Nature Genetics. 44:1020-1025 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.2384 |
| Popis: | Following a previous genome-wide association study (GWAS 1) including 744 cases and 895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese (GWAS 2) with 1,510 polycystic ovary syndrome (PCOS) cases and 2,016 controls. We followed up significantly associated signals identified in the combined results of GWAS 1 and 2 in a total of 8,226 cases and 7,578 controls. In addition to confirming the three loci we previously reported, we identify eight new PCOS association signals at P < 5 × 10(-8): 9q22.32, 11q22.1, 12q13.2, 12q14.3, 16q12.1, 19p13.3, 20q13.2 and a second independent signal at 2p16.3 (the FSHR gene). These PCOS association signals show evidence of enrichment for candidate genes related to insulin signaling, sexual hormone function and type 2 diabetes (T2D). Other candidate genes were related to calcium signaling and endocytosis. Our findings provide new insight and direction for discovering the biological mechanisms of PCOS. |
| Databáze: | OpenAIRE |
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