BMC medical geneticsAug 23, 2017

Relationship between a common FTO gene variant and polycystic ovary syndrome

Circadian Biology Weekly Brief ↗PubMed ↗DOI ↗

Updated Apr 5, 2026

Abstract

A total of 10,310 individuals were analyzed, revealing that the A allele of the FTO gene rs9939609 A/T polymorphism is associated with increased risk of polycystic ovary syndrome (PCOS).

The FTO gene rs9939609 A/T polymorphism shows significant differences between PCOS patients and controls across various genetic models.
The odds ratio for the AA + AT versus TT model is 1.41, indicating a higher likelihood of PCOS in individuals with the A allele.
In the AA versus AT + TT comparison, the odds ratio is 1.54, further suggesting an association with PCOS.
The odds ratio for AA versus TT is 1.74, reinforcing the risk linked to the A allele.
Subgroup analysis indicates a significant association in both Asian (OR = 1.43) and Caucasian (OR = 1.33) populations.

Simplified

BACKGROUND: Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a consistent result. Hence we performed current systematic review and meta-analysis to clarify the controversial results.

METHODS: Case-control studies reporting the relationship of rs9939609 A/T polymorphism and PCOS published before April 2015 were searched in Pubmed database without language restriction. Data was analyzed by Review Manager 5.2.

RESULTS: A total of five studies involving 5010 PCOS patients and 5300 controls were included for further meta-analysis. The results of meta-analysis showed that the FTO gene rs9939609 A/T polymorphism was significantly different between PCOS group and control group in different gene models (For AA + AT vs. TT: OR = 1.41, 95% CI = 1.28-1.55, P < 0.00001. For AA vs. AT + TT: OR = 1.54, 95% CI = 1.25-1.89, P < 0.0001. For AA vs. TT: OR = 1.74, 95% CI = 1.38-2.18, P < 0.00001. For A vs. T: OR = 1.36, 95% CI = 1.25-1.47, P < 0.00001, respectively) suggesting that A allele was a risk factor for PCOS susceptibility. Furthermore, subgroup analysis in Asian and Caucasian ethnicities also found significant association between rs9939609 A/T polymorphism and PCOS (In Asian subgroup: OR = 1.43, 95% CI = 1.29-1.59, P < 0.0001. In Caucasian subgroup: OR = 1.33, 95% CI = 1.08-1.64, P = 0.008) CONCLUSION: This meta-analysis suggests that rs9939609 A/T polymorphism of FTO gene is associated with PCOS risk, and that A allele is a risk factor for PCOS susceptibility simultaneously.

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ETHICS APPROVAL AND CONSENT TO PARTICIPATE: The manuscript has been read and approved by all the authors. The research adhered to the tenets of The Declaration of Helsinki. The Ethics Committee of Nanhua-Xinghui Hospital approved the protocol. Written informed consent was obtained from all participants among these cited references (12–16). CONSENT FOR PUBLICATION: Not applicable. COMPETING INTERESTS: The authors declare that they have no competing interests. PUBLISHER’S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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Relationship between a common FTO gene variant and polycystic ovary syndrome

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