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Year : 2019  |  Volume : 3  |  Issue : 3  |  Page : 185-190

Advances in genetic studies related to polycystic ovary syndrome in the post-genome-wide association studies era

1 Department of Gynecology, Traditional Chinese Medicine College, Shandong University of Traditional Chinese Medicine, Jinan 250011, China
2 Reproductive Medicine Center of Integration of Traditional and Western Medicine, The Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, 250011, China

Correspondence Address:
Zhen-Gao Sun
No. 42, Wenhuaxi Road, Lixia District, Jinan 250011
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2096-2924.268159

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Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by reproductive and metabolic dysfunction with a genetic predisposition evidenced by familial clustering and twin studies. Patients with PCOS often produce oocytes of poor quality, leading to lower rates of fertilization, cleavage, and implantation, but higher rates of miscarriages and long-term complications. However, the etiology of PCOS still remains uncertain due to unavailability of unified diagnostic criteria and prevalence of clinical heterogeneity. Owing to advances in technology and methods employed for research, large-scale genetic/other studies have provided many new insights into the genetic pathogenesis of PCOS. However, although genome-wide association studies have been conducted, we still need to evaluate the association between specific loci and their relevance in the manifestation of this disease. In this article, we have presented a review of the recent studies.

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