title: Hypoxia inducible factor-1α gene polymorphisms in Korean patients with pre-eclampsia.
abstract: BACKGROUND
  Placental hypoxia has been implicated in the pathogenesis of pre-eclampsia. Hypoxia inducible factor-1α (HIF-1α) is activated by low oxygen tension and is a key regulator of genes involved in the cellular responses to hypoxia.
  
  
  OBJECTIVE
  We determined whether maternal blood c.1722C>T (Pro582Ser) and c.1790G>A (Ala588Thr) polymorphisms in exon 12 of the HIF-1α gene are associated with pre-eclampsia.
  
  
  METHODS
  Subjects included 163 pre-eclamptic patients (48 mild and 115 severe preeclampsia) and 194 healthy pregnant women. Polymorphisms were genotyped by PCR and direct DNA sequencing.
  
  
  RESULTS
  There were no significant differences in genotype or allele frequencies of the c.1772C>T and c.1790G>A polymorphisms of the HIF-1α gene among the study groups. Moreover, subgroup analysis according to pre-eclampsia severity revealed no significant differences in genotype or allele frequencies of the HIF-1α c.1772C>T and c.1790G>A polymorphism in mild pre-eclamptic compared to severe pre-eclamptic group. In addition, there were no significant differences in the frequencies of 3 haplotypes (C-G,-G, T-G, and C-A) between the control and pre-eclamptic groups.
  
  
  CONCLUSIONS
  Our results suggest that the HIF-1α gene polymorphisms are not associated with the development of pre-eclampsia in the studied Korean women population.
authors: Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, 1-19 Mukjeong-dong, Jung-gu, Seoul 100-380, Korea.
authors: S Y
authors: SY
authors: Kim
authors: S Y
authors: SY
authors: Park
authors: J H
authors: JH
authors: Lim
authors: B Y
authors: BY
authors: Lee
authors: J H
authors: JH
authors: Yang
authors: H M
authors: HM
authors: Ryu
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D005091:Exons; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006769:Hospitals, General; D006786:Hospitals, Urban; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011225:Pre-Eclampsia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D011247:Pregnancy; D011446:Prospective Studies; D056910:Republic of Korea; D012720:Severity of Illness Index
chemical_list: C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit