title: Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure.
abstract: OBJECTIVE
  To identify whether epistasis between TG and HSD17B4 and whether polymorphisms in HSD17B4 are associated with premature ovarian failure (POF).
  
  
  METHODS
  Case-control genetic association study.
  
  
  METHODS
  Research laboratory of a university.
  
  
  METHODS
  Female patients with POF (98) and controls (218) of Korean ethnicity participated in this study.
  
  
  METHODS
  None.
  
  
  METHODS
  Genotype distribution, haplotype (HT) inference, and gene-gene interaction.
  
  
  RESULTS
  Distribution of one haplotype (A-G-A-A-G-G) on the HSD17B4 gene was significantly different between the POF group and the control group in a dominant model. In addition, the combined effect of the single nucleotide polymorphisms (SNPs) HSD17B4 rs28943592 and TG rs2076740 was significantly associated with POF (odds ratio = 7.74, 95% confidence interval = 1.67-35.94), although a significant association was not observed in the single SNP model.
  
  
  CONCLUSIONS
  A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF. In addition, epistasis between two missense SNPs (rs28943592, rs2076740) located in HSD17B4 and TG was significantly associated with susceptibility to POF.
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
authors.forename: Jung-A
authors.initials: JA
authors.lastname: Pyun
authors.forename: Sunshin
authors.initials: S
authors.lastname: Kim
authors.forename: Dong Hyun
authors.initials: DH
authors.lastname: Cha
authors.forename: Jeong-Jae
authors.initials: JJ
authors.lastname: Ko
authors.forename: KyuBum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004843:Epistasis, Genetic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D016017:Odds Ratio; D064029:Peroxisomal Multifunctional Protein-2; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000201:enzymology / Q000235:genetics*; D056910:Republic of Korea; D018570:Risk Assessment; D012307:Risk Factors; D013954:Thyroglobulin / Q000235:genetics*
chemical_list: D013954:Thyroglobulin; D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human