title: Polycystic ovary syndrome is not associated with polymorphisms of the TCF7L2, CDKAL1, HHEX, KCNJ11, FTO and SLC30A8 genes.
abstract: OBJECTIVE
  Insulin resistance is a core feature of polycystic ovary syndrome (PCOS). Recently, genome-wide association studies have reported a number of single-nucleotide polymorphisms (SNPs) with reproducible associations and susceptibilities to type 2 diabetes. We examined the potential association between the diabetogenic genes uncovered in the genome-wide association studies and PCOS in Korean women.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Women with or without PCOS.
  
  
  METHODS
  DNA samples from 377 patients with PCOS and 386 age-matched controls were genotyped.
  
  
  RESULTS
  None of the 12 SNPs in the six genes (KCNJ11, TCF7L2, SLC30A8, HHEX, FTO and CDKAL1) uncovered in the genome-wide association studies were associated with PCOS. For further analysis, the patients with PCOS were divided into two or three subgroups according to genotype, and the associations between the genotypes and insulin resistance or insulin secretory capacity were assessed. No SNPs were significantly associated with HOMA-IR, HOMA (βcell)  (%), or 2-h 75-g oral glucose tolerance test insulin levels in the patients with PCOS; there were no significant associations with other serum hormonal and metabolic markers, such as androgen or glucose levels.
  
  
  CONCLUSIONS
  Our results suggest that the six type 2 diabetes-associated genes identified in genome-wide association studies are not associated with PCOS.
authors.affiliation: Department of Obstetrics and Gynaecology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jin Ju
authors.initials: JJ
authors.lastname: Kim
authors.forename: Young Min
authors.initials: YM
authors.lastname: Choi
authors.forename: Young Min
authors.initials: YM
authors.lastname: Cho
authors.forename: Min A
authors.initials: MA
authors.lastname: Hong
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Chae
authors.forename: Kyu Ri
authors.initials: KR
authors.lastname: Hwang
authors.forename: Seung Sik
authors.initials: SS
authors.lastname: Hwang
authors.forename: Sang Ho
authors.initials: SH
authors.lastname: Yoon
authors.forename: Shin Yong
authors.initials: SY
authors.lastname: Moon
mesh_terms: D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D000728:Androgens / Q000097:blood; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D051360:Cyclin-Dependent Kinase 5 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D056910:Republic of Korea; D012307:Risk Factors; D058118:Transcription Factor 7-Like 2 Protein / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000075703:Zinc Transporter 8; D012359:tRNA Methyltransferases; D000099161:Kcnj11 Channel
chemical_list: D000071516:Alpha-Ketoglutarate-Dependent Dioxygenase FTO; D000728:Androgens; D027682:Cation Transport Proteins; D051360:Cyclin-Dependent Kinase 5; D018398:Homeodomain Proteins; D024661:Potassium Channels, Inwardly Rectifying; D011506:Proteins; D058118:Transcription Factor 7-Like 2 Protein; D014157:Transcription Factors; D000075703:Zinc Transporter 8; D012359:tRNA Methyltransferases; D000099161:Kcnj11 Channel; C078492:HHEX protein, human; C492522:SLC30A8 protein, human; C544894:TCF7L2 protein, human; C526492:FTO protein, human; C525110:CDKAL1 protein, human