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Family-based analysis of eight susceptibility loci in polycystic ovary syndrome.

ABSTRACT: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that is proposed to have a genetic basis. A recent genome-wide association study (GWAS) identified eight new risk loci that are independently associated with PCOS. To further validate the findings, a total of 321 case-parent trios (963 participants) who had a proband affected with PCOS were recruited for the family-based study. The transmission disequilibrium test (TDT) was used to analyze associations between PCOS and ten single nucleotide polymorphisms (SNPs) mapped to eight new susceptibility loci. Significant differences in transmission were observed for the SNPs rs2349415 (located in the FSHR gene, P?=?0.0001) and rs3802457 (located in the C9orf3 gene, P?=?0.0001), even after correction for multiple testing bias. The present data provides further evidence for an association between two susceptibility loci, 2p16.3 and 9q22.32, and PCOS. Follow-up functional studies on the FSHR and C9orf3 genes are required to understand their roles in PCOS development.

SUBMITTER: Zhao S 

PROVIDER: S-EPMC4518258 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature

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Family-based analysis of eight susceptibility loci in polycystic ovary syndrome.

Zhao Shigang S   Tian Ye Y   Gao Xuan X   Zhang Xiuqing X   Liu Hongbin H   You Li L   Cao Yongzhi Y   Su Shizhen S   Chan Wai-Yee WY   Sun Yun Y   Zhao Han H   Chen Zi-Jiang ZJ  

Scientific reports 20150729

Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that is proposed to have a genetic basis. A recent genome-wide association study (GWAS) identified eight new risk loci that are independently associated with PCOS. To further validate the findings, a total of 321 case-parent trios (963 participants) who had a proband affected with PCOS were recruited for the family-based study. The transmission disequilibrium test (TDT) was used to analyze associations between PCOS and ten single n  ...[more]

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