title: Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women.
abstract: OBJECTIVE
  This study investigated whether polymorphisms within the Fanconi anemia complementation group A (FANCA) gene contribute to the increased risk of premature ovarian failure (POF) in Korean women.
  
  
  METHODS
  Ninety-eight women with POF and 218 controls participated in this study. Genomic DNA from peripheral blood was isolated, and GoldenGate genotyping assay was used to identify single nucleotide polymorphisms (SNPs) within the FANCA gene.
  
  
  RESULTS
  Two significant SNPs (rs1006547 and rs2239359; P < 0.05) were identified by logistic regression analysis, but results were insignificant after Bonferroni correction. Six SNPs formed a linkage disequilibrium block, and three main haplotypes were found. Two of three haplotypes (AAAGAA and GGGAGG) distributed highly in the POF group, whereas the remaining haplotype (GGAAGG) distributed highly in the control group by logistic regression analysis (highest odds ratio, 2.515; 95% CI, 1.515-4.175; P = 0.00036).
  
  
  CONCLUSIONS
  Our observations suggest that genetic variations in the FANCA gene may increase the risk for POF in Korean women.
authors.affiliation: From the 1Department of Biomedical Science, College of Life Science, CHA University, Seongnam-si, Gyeonggi-do, Republic of Korea; and 2Division of Genetics, Department of Obstetrics and Gynecology, College of Medicine, CHA General Hospital, CHA University, Seoul, Republic of 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: KyuBum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D016015:Logistic Models; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein