title: Association of inhibin α gene promoter polymorphisms with risk of idiopathic primary ovarian insufficiency in Korean women.
abstract: OBJECTIVE
  The aim of this study was to investigate whether two polymorphisms in the promoter region of inhibin alpha (INHA) are associated with risk of idiopathic primary ovarian insufficiency (POI) in Korean women, which is a controversial topic.
  
  
  METHODS
  We genotyped the INHA polymorphisms c.-16C>T (rs35118453) and c.-124A>G (rs11893842) of 136 POI patients and 225 controls in Korean women by polymerase chain reaction and restriction fragment length polymorphism analysis. We then compared differences in genotype and allele frequencies (AF) of the polymorphisms between the two groups to determine odds ratios (OR) and 95% confidence intervals (CI) as measures of the strength of association between genotype and POI.
  
  
  RESULTS
  There were no significant differences in genotype or AF of the polymorphisms between the POI patients and controls. Haplotype analysis revealed that the T-G haplotype of the two variant alleles was more frequent in POI patients than in the controls (OR=1.630, 95% CI=1.081-2.457). Combination genotype analysis showed that the CT+TT/GG genotype frequency was higher in POI patients than in the controls (OR=2.414, 95% CI=1.190-4.895).
  
  
  CONCLUSIONS
  We provide evidence to suggest that when the two variant alleles are combined, the c.-16C>T and c.-124A>G polymorphisms are associated with increased POI risk in Korean women. We postulate that interactions between the INHA polymorphisms may affect POI risk.
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Institute for Clinical Research, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
authors.forename: HyungChul
authors.initials: H
authors.lastname: Rah
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Institute for Clinical Research, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
authors.forename: Jung Jae
authors.initials: JJ
authors.lastname: Ko
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
authors.forename: Ji Hyang
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
authors.forename: Young Ran
authors.initials: YR
authors.lastname: Kim
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, South Korea.
authors.forename: Sun Hee
authors.initials: SH
authors.lastname: Cha
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
authors.forename: Youngsok
authors.initials: Y
authors.lastname: Choi
authors.affiliation: Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
authors.forename: Woo Sik
authors.initials: WS
authors.lastname: Lee
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea; Institute for Clinical Research, CHA Bundang Medical Center, CHA University, Seongnam, South Korea. Electronic address: nkkim@cha.ac.kr.
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D007265:Inhibins / Q000235:genetics*; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology / Q000235:genetics*; D011401:Promoter Regions, Genetic; D056910:Republic of Korea / Q000453:epidemiology; D055815:Young Adult
chemical_list: C094377:inhibin-alpha subunit; D007265:Inhibins
keywords: INHA; Idiopathic primary ovarian insufficiency; Inhibin alpha; POI; Polymorphism