title: Rare variant of hypoxia-inducible factor-1alpha (HIF-1A) and breast cancer risk in Korean women.
abstract: BACKGROUND
  Hypoxia inducible factor 1 alpha (HIF-1A) is activated by low oxygen condition tension, a key regulator of the gene involved in the cellular response to hypoxia. Tumors exhibiting extensive hypoxia are more aggressive than tumors oxygenized better.
  
  
  METHODS
  To evaluate the potential role of the polymorphisms of HIF-1A in the etiology of breast cancer, histologically confirmed incident breast cancer cases (n=1599) and control subjects (n=1536) were recruited.
  
  
  RESULTS
  Two selected SNPs (Ex15+197C>T and P582S) were not associated with overall breast cancer risk (TT vs. CC: OR=0.9, 95% CI=0.6-1.5, Ser/Ser vs. Pro/Pro: OR=5.5, 95% CI=0.7-45.4, respectively). However, when stratified analyses were performed, significant associations were observed between Ser/Ser genotype at codon 582 and breast cancer risk among women with larger tumor size (>2 cm) (OR=10.1, 95% CI=1.1-91.1) or without lymph node involvement (OR=9.3, 95% CI=1.1-79.4), although confidence intervals were wide.
  
  
  CONCLUSIONS
  Our findings support the hypothesis that the HIF-1Alpha P582S variant may confer susceptibility to subgroups of breast cancer in Korean women. However, further study is warranted due to low statistical power caused by very low minor allele frequencies.
authors.affiliation: Department of Preventive Medicine, Seoul National University College of Medicine, Jongnoo-Gu, Seoul, South Korea.
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Ji-Yeob
authors.initials: JY
authors.lastname: Choi
authors.forename: Kyoung-Mu
authors.initials: KM
authors.lastname: Lee
authors.forename: Sue Kyung
authors.initials: SK
authors.lastname: Park
authors.forename: So-Hee
authors.initials: SH
authors.lastname: Han
authors.forename: Dong-Young
authors.initials: DY
authors.lastname: Noh
authors.forename: Sei-Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Dong-Hyun
authors.initials: DH
authors.lastname: Kim
authors.forename: Yun-Chul
authors.initials: YC
authors.lastname: Hong
authors.forename: Eunhee
authors.initials: E
authors.lastname: Ha
authors.forename: Keun-Young
authors.initials: KY
authors.lastname: Yoo
authors.forename: Christine B
authors.initials: CB
authors.lastname: Ambrosone
authors.forename: Daehee
authors.initials: D
authors.lastname: Kang
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D007723:Korea; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit