Interaction between common variants of FTO and MC4R is associated with risk of PCOS

Reproductive Biology and Endocrinology

Mo Shen¹  Huihui Guo²  Xiang Wang²  Fang Wang³  Guoping Zhu³  Huiqin Yuan³ 

[1] Department of Laboratory Medicine, First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China;Department of Laboratory Medicine, First Affiliated Hospital, Huzhou Teachers College, the First People’s Hospital of Huzhou, Huzhou 313000, China;Department of Gynaecology and Obstetrics, First Affiliated Hospital, Huzhou Teachers College, the First People’s Hospital of Huzhou, Huzhou 313000, China

关键词: Polycystic ovary syndrome;    Genetic association study;    MC4R;    FTO;   

Others  :  1216403
DOI  :  10.1186/s12958-015-0050-z

 received in 2015-01-26, accepted in 2015-05-23,  发布年份 2015

【 摘 要 】

Background

Polycystic ovary syndrome (PCOS) is a common and complex endocrine-metabolic disease. One of the well-documented characteristics of PCOS is obesity or overweightness. It is possible to be genetically predisposed to becoming obese or overweight, and several potentially causative single nucleotide polymorphisms (SNPs), such as rs9939609 (A/T) in the fat mass, and obesity-associated gene (FTO) and rs17782313 (T/C) in the melanocortin-4 receptor gene (MC4R), have been investigated. Further investigation of association between obesity-associated SNPs and PCOS susceptibility will contribute to a better understanding of the disease.

Methods

In the present study, we enrolled 733 patients with PCOS and 892 control subjects. The common variants FTO rs9939609 and MC4R rs17782313 were genotyped and their relationship with obesity-related traits was evaluated.

Results

Rs9939609 and rs17782313 are associated with PCOS and obesity-related traits and profiles. The association found between PCOS and FTO rs9939609 (p = 0.0302) was attenuated after adjustment for BMI (p = 0.187). MC4R rs17782313 did not confer an increased risk for PCOS (p = 0.368) even after adjustments (p = 0.715). Interestingly, the interaction of FTO and MC4R polymorphisms was more significantly associated with PCOS (p = 0.031, adjusted for age and BMI). The FTO variant rs9939609 is associated with Chinese women with PCOS; however, this association is affected by BMI.

Conclusions

The combined pathogenic effect of FTO and MC4R polymorphisms indicates a direct role of the interaction between FTO and MC4R polymorphisms in the development of PCOS.

【 授权许可】

   
2015 Yuan et al.

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