title: HIF-1α (1772C>T) polymorphism as marker for breast cancer development.
abstract: Hypoxia-inducible factor 1α (HIF-1α) is an important transcription factor that regulates different cellular responses to hypoxia. HIF-1α is rapidly degraded by von Hippel-Lindau (VHL) protein under normoxic conditions and stabilized under hypoxia. A common variant of HIF-1α (1772C>T) (rs 11549465) polymorphism, corresponding to an amino acid change from proline to serine at 582 position within the oxygen-dependent degradation domain, results in increased stability of the protein and altered transactivation of its target genes. The present study was aimed to find the association between HIF-1α (1772C>T) (rs 11549465) polymorphism and breast cancer development. For this purpose, 348 primary breast cancer patients and 320 healthy and age-matched controls were genotyped through PCR-RFLP method. The genotype frequencies were compared between patients and controls, and their influence on clinical characteristics of breast cancer patients was analyzed. Our study revealed a significant increase of TT genotype in breast cancer patients compared to controls (p = 0.038). Further, TT genotype and T allele were found to be associated with progesterone receptor (PR)-negative status (p < 0.09). None of the clinical variables revealed significant association with HIF-1α (1772C>T) (rs 11549465) polymorphism.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, 500007, India.
authors.forename: Phanni Bhushann
authors.initials: PB
authors.lastname: Meka
authors.forename: Anuradha
authors.initials: A
authors.lastname: Cingeetham
authors.forename: Santhoshi Rani
authors.initials: SR
authors.lastname: Nanchari
authors.forename: Surekha
authors.initials: S
authors.lastname: Damineni
authors.forename: Nageshwarao
authors.initials: N
authors.lastname: Tipirisetti
authors.forename: Manjula
authors.initials: M
authors.lastname: Gorre
authors.forename: Sarika
authors.initials: S
authors.lastname: Jarjapu
authors.forename: Sandhya
authors.initials: S
authors.lastname: Annamaneni
authors.forename: Raghunadharao
authors.initials: R
authors.lastname: Digumarthi
authors.forename: Vishnupriya
authors.initials: V
authors.lastname: Satti
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism; D018270:Carcinoma, Ductal, Breast / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D051795:Hypoxia-Inducible Factor 1, alpha Subunit / Q000235:genetics*; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011980:Receptors, Progesterone / Q000378:metabolism; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C497442:HIF1A protein, human; D051795:Hypoxia-Inducible Factor 1, alpha Subunit; D011980:Receptors, Progesterone