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

Reproductive Biology and Endocrinology

Research

Huiqin Yuan¹  Fang Wang¹  Guoping Zhu¹  Mo Shen²  Xiang Wang³  Huihui Guo³ 

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

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

DOI  :  10.1186/s12958-015-0050-z

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

来源: Springer

【 摘 要 】

BackgroundPolycystic 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.MethodsIn 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.ResultsRs9939609 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.ConclusionsThe 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】

Unknown   
© Yuan et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.