title: Tumor necrosis factor-alpha promoter polymorphisms are associated with idiopathic primary ovarian insufficiency in Korean women.
abstract: OBJECTIVE
  To investigate the possible association between primary ovarian insufficiency (POI) and TNF-α gene polymorphisms in Korean women.
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  An urban university-based hospital in South Korea.
  
  
  METHODS
  A cohort of 135 Korean POI patients and 236 controls.
  
  
  METHODS
  None.
  
  
  METHODS
  We analyzed TNF-α gene variants of all participants using the polymerase chain reaction-restriction fragment length polymorphism assay.
  
  
  RESULTS
  The TNF-α -1031TC+CC, -238GA+AA, -1031TC+CC/-308GG, -1031TT/-308GA+AA, -1031TC+CC/-238GA+AA, and -308GG/-238GA+AA genotypes were significantly more frequent in POI patients than in controls. Among the haplotypes for the three TNF-α loci, the -1031C/-308G/-238A haplotype was more frequent in POI patients than in controls and conferred POI susceptibility. In analyses of two loci, the -1031T/-308A, -1031C/-308G, -1031C/-238A, and -308G/-238A haplotypes were more frequent in POI patients.
  
  
  CONCLUSIONS
  The TNF-α -1031C and -238A alleles had strong association with POI. The TNF-α -308A allele showed limited significance for POI risk with the presence of the -1031T allele. Our data suggest that the minor alleles of TNF-α promoter polymorphisms may increase POI risk in Korean women.
authors.affiliation: Department of Obstetrics and Gynecology and Fertility Center of CHA Bundang Medical Center, CHA University, Seoul, South Korea.
authors.forename: Ji Hyang
authors.initials: JH
authors.lastname: Kim
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.forename: Hyungchul
authors.initials: H
authors.lastname: Rah
authors.forename: Bo Eun
authors.initials: BE
authors.lastname: Lee
authors.forename: Dong Hee
authors.initials: DH
authors.lastname: Choi
authors.forename: Woo Sik
authors.initials: WS
authors.lastname: Lee
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D004958:Estradiol / Q000097:blood; D005260:Female; D005298:Fertility / Q000235:genetics* / Q000276:immunology; D043373:Follicle Stimulating Hormone, Human / Q000097:blood; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D011401:Promoter Regions, Genetic; D056910:Republic of Korea / Q000453:epidemiology; D018570:Risk Assessment; D012307:Risk Factors; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D015415:Biomarkers; D043373:Follicle Stimulating Hormone, Human; D014409:Tumor Necrosis Factor-alpha; D004958:Estradiol; D007986:Luteinizing Hormone