title: Association between kinase insert domain-containing receptor polymorphisms (-604T>C, 1192G>A, 1719A>T) and premature ovarian failure in Korean women.
abstract: OBJECTIVE
  The aim of the study was to investigate whether the -604T>C, 1192G>A, and 1719A>T polymorphisms in the kinase insert domain-containing receptor (KDR) gene confer risk for premature ovarian failure (POF) in Korean women.
  
  
  METHODS
  DNA samples from 133 POF patients and 230 controls were genotyped for the three KDR single nucleotide polymorphisms by polymerase chain reaction-restriction fragment length polymorphism analysis.
  
  
  RESULTS
  The POF patients had significantly increased frequencies of the KDR -604TC and -604TC + CC genotypes (odds ratio [OR], 1.975; 95% CI, 1.219-3.201 and OR, 1.948; 95% CI, 1.221-3.109, respectively) and of the -604TC + CC/1192GG combined genotype (OR, 2.271; 95% CI, 1.359-3.795) and a decreased frequency of the 1192GA genotype (OR, 0.457; 95% CI, 0.231-0.905) compared with the controls. The genotype frequency of the 1719A>T polymorphism was not significantly different between the two groups. The frequencies of the KDR -604C/1192G/1719T, -604C/1192G, and -604C/1719T haplotypes (OR, 3.319; 95% CI, 1.564-7.041; OR, 2.083; 95% CI, 1.351-3.212; and OR, 1.979; 95% CI, 1.073-3.649, respectively) were significantly higher among POF patients than controls, whereas the -604T/1719T haplotype frequency (OR, 0.657; 95% CI, 0.472-0.915) was lower among POF patients.
  
  
  CONCLUSIONS
  Carriers of the KDR -604C variant allele (-604TC and -604TC + CC genotypes; -604TC + CC/1192GG combined genotype; -604C/1192G/1719T haplotype, -604C/1192G haplotype, -604C/1719T haplotype) are consistently more prevalent among POF patients than among controls, suggesting that the KDR -604C allele may increase the risk of POF development in Korean women.
authors.affiliation: Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
authors.forename: HyungChul
authors.initials: H
authors.lastname: Rah
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.forename: Youngsok
authors.initials: Y
authors.lastname: Choi
authors.forename: Sung Han
authors.initials: SH
authors.lastname: Shim
authors.forename: Jung Jae
authors.initials: JJ
authors.lastname: Ko
authors.forename: Tae Ki
authors.initials: TK
authors.lastname: Yoon
authors.forename: Sun Hee
authors.initials: SH
authors.lastname: Cha
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000328:Adult; D044466:Asian People; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D056910:Republic of Korea; D040301:Vascular Endothelial Growth Factor Receptor-2 / Q000235:genetics*
chemical_list: D040301:Vascular Endothelial Growth Factor Receptor-2