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

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Abstract

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 Pmeta = 7.55 × 10−21, odds ratio (OR) 0.71); 2p21 (rs13429458, Pmeta = 1.73 × 10−23, OR 0.67); and 9q33.3 (rs2479106, Pmeta = 8.12 × 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.

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Figure 1: Genome-wide association scan for PCOS.
Figure 2: Regional plots of the three newly discovered PCOS loci (2p16.3, 2p21 and 9q33.3).

Change history

  • 28 January 2011

    In the version of this article originally posted online corresponding author Yongyong Shi was not designated as a corresponding author. This error has been corrected in the HTML version of the paper.

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Acknowledgements

We thank all participants involved in this study. We thank J. Simpson for revising this manuscript and X. Xu, X. Xing, T. Li, M. Guo, L. Cui, Q. Zheng, C. Li, J. Zhang, D. Wu, C. Zhang, X. Yan, W. He, Y. Cui, M. Xia, J. Li, P. Wang, H. Lv, S. Xu and L. Wang for subject recruitment. This study was supported by grants from the National Basic Research Program of China (973 Program-2006CB944004, 2010CB945000, 2007CB947403, 2007CB914703, 2007CB947300, 2010CB529600), the National 863 Project of China grants (2006AA02A407, 2009AA022701), the National Natural Science Foundation of China (30973170) and the Shanghai Municipal Commission of Science and Technology Program (09DJ1400601).

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Authors

Contributions

Z.-J.C., L.H. and Yongyong Shi designed the study and revised the manuscript. Z.-J.C. supervised patients' diagnosis, subject recruitment and performance of experiments. Yongyong Shi supervised the experiments and data analysis. H.Z. and Z.L. conducted data analyses and drafted the manuscript. H.Z., Yuhua Shi, Y.Q., L.Y., L.G. and J.Y. recruited subjects. Junli Zhao, J.L., X.L., X.Z., Junzhao Zhao, Y. Sun, B.Z., H.J., D. Zhao, Yiran Li, D. Zhu, X.S., J.-e.X., C.H., C.-e.R., Y. Zhang, S.C., W.Z. and A.Y. coordinated and provided samples from different hospitals. L.Y., Y.B., Yuan Li, J.M. and Y. Zhao performed DNA extraction. X.G. performed endocrine biochemical examination. All authors critically reviewed the article and approved the final manuscript.

Corresponding authors

Correspondence to Zi-Jiang Chen or Yongyong Shi.

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The authors declare no competing financial interests.

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Chen, ZJ., Zhao, H., He, L. et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet 43, 55–59 (2011). https://doi.org/10.1038/ng.732

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