, Volume 36, Issue 3, pp 377–382 | Cite as

Association of the common rs9939609 variant of FTO gene with polycystic ovary syndrome in Chinese women

  • Qun Yan
  • Jie Hong
  • Weiqiong Gu
  • Yifei Zhang
  • Qiaorui Liu
  • Yuxia Su
  • Yuwen Zhang
  • Xiaoying Li
  • Bin Cui
  • Guang Ning
Case Report


Variations in the fat mass and obesity-associated (FTO) gene have recently been associated with obesity and type 2 diabetes mellitus among different ethnic populations. Given that the phenotype of polycystic ovary syndrome (PCOS) overlaps with obesity and type 2 diabetes, we hypothesize that the common rs9939609 variant of FTO gene is related to PCOS susceptibility. We performed a case–control association study on 215 women with PCOS, using 227 healthy women as the control. We examined the association between rs9939609 variant and PCOS susceptibility, as well as between PCOS and obesity-related parameters in Chinese women. We observed significant differences in the allelic and genotypic distributions between PCOS patients and the control group. The A allele was significantly more frequent among PCOS patients than in the control population (15.1% vs. 9.9%; A allele vs. T allele, OR = 1.62, P = 0.019). The A allele carrier genotype (AA and AT) frequencies were also significantly greater in PCOS patients than in the controls (28% vs. 19%; AT and TT vs. TT genotype, OR = 1·61, P = 0.035). In logistic regression, the strength of this association was attenuated after adjustment for body mass index (BMI) (A allele vs. T allele, OR = 1.39, P = 0.286; AT and TT genotypes vs. TT genotype, OR = 1.40, P = 0.312). However, we did not find any significant associations of rs9939609 variant with obesity-related traits. In conclusions, the rs9939609 variant in the FTO gene is associated with PCOS susceptibility in the Chinese population, probably because of its effect on BMI.


FTO Single nucleotide polymorphism Polycystic ovary syndrome 



Body mass index


Fat mass and obesity-associated gene


Hardy–Weinberg equilibrium


Homeostasis model assessment-insulin resistance


Minor allele frequency


Glucose tolerance test

OR [95% CI]

Odds ratio with 95% confidence interval


Polycystic ovary syndrome


Sex hormone-binding globulin


Single nucleotide polymorphism


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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Qun Yan
    • 1
    • 2
  • Jie Hong
    • 1
  • Weiqiong Gu
    • 1
  • Yifei Zhang
    • 1
  • Qiaorui Liu
    • 1
    • 2
  • Yuxia Su
    • 1
  • Yuwen Zhang
    • 1
  • Xiaoying Li
    • 1
  • Bin Cui
    • 1
    • 2
  • Guang Ning
    • 1
    • 2
  1. 1.Shanghai Key Laboratory for Endocrine Tumors, Shanghai Institute of Endocrine and Metabolic Disease, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Ruijin HospitalShanghai JiaoTong University School of MedicineShanghaiPeople’s Republic of China
  2. 2.Laboratory Endocrine and Metabolic Diseases of Institute of Health Sciences, Shanghai Institutes for Biological SciencesChinese Academy of Sciences and Shanghai JiaoTong University School of MedicineShanghaiPeople’s Republic of China

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