title: Common variant rs9939609 in gene FTO confers risk to polycystic ovary syndrome.
abstract: BACKGROUND
  Fat mass and obesity-associated gene (FTO) has been associated with obesity, especially the common variant rs9939609. Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disorder and over 50% of patients are overweight/obese. Thus FTO is a potential candidate gene for PCOS but their relationship is confusing and remains to be clarified in different population with a large sample size.
  
  
  METHODS
  This study was performed adopting a two-stage design by genotyping SNP rs9939609. The first set comprise of 741 PCOS and 704 control subjects, with data from our previous GWAS. The second phase of replication study was performed among another independent group of 2858 PCOS and 2358 control subjects using TaqMan-MGB probe assay. All subjects are from Han Chinese.
  
  
  RESULTS
  The less meaningful association of FTO rs9939609 and PCOS discovered in GWAS (P = 2.47E-03), was further confirmed in the replication study (P = 1.86E-09). Using meta-analysis, the P-meta value has reached 6.89E-12, over-exceeding the genome-wide association level of 5.00E-8. By combination, the P value was 1.26E-11 and after BMI adjustment it remained significant(P = 1.82E-06). To further elucidate whether this association is resulted from obesity or PCOS per se, the samples were divided into two groups-obese and non-obese PCOS, and the results were still positive in obese group (P obese = 5.81E-05, OR = 1.55), as well as in non-obese PCOS group (P non-obese = 7.06E-04, OR = 1.28).
  
  
  CONCLUSIONS
  Variant rs9939609 in FTO is associated with PCOS in Chinese women, not only in obese PCOS subjects, but also in non-obese cases.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.forename: Keliang
authors.initials: K
authors.lastname: Wu
authors.forename: Li
authors.initials: L
authors.lastname: You
authors.forename: Xiuye
authors.initials: X
authors.lastname: Xing
authors.forename: Peng
authors.initials: P
authors.lastname: Wang
authors.forename: Linlin
authors.initials: L
authors.lastname: Cui
authors.forename: Hongbin
authors.initials: H
authors.lastname: Liu
authors.forename: Yuqian
authors.initials: Y
authors.lastname: Cui
authors.forename: Yuehong
authors.initials: Y
authors.lastname: Bian
authors.forename: Yunna
authors.initials: Y
authors.lastname: Ning
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.forename: Rong
authors.initials: R
authors.lastname: Tang
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D044466:Asian People / Q000235:genetics; D015992:Body Mass Index; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009765:Obesity / Q000150:complications / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D011506:Proteins; D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; C526492:FTO protein, human