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.
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Acknowledgments
We would like to thank Nizam’s Institute of Medical Sciences, Hyderabad, for providing samples from the breast cancer patients.
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Funding
This study was funded by University Grants Commission-Centre for Advanced Studies (UGC-CAS-II), New Delhi and DBT-OU-ISLARE. PM is thankful to UGC-CAS-II for providing fellowship.
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bhushann Meka, P., Cingeetham, A., Nanchari, S.R. et al. HIF-1α (1772C>T) polymorphism as marker for breast cancer development. Tumor Biol. 36, 3215–3220 (2015). https://doi.org/10.1007/s13277-014-2949-y
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DOI: https://doi.org/10.1007/s13277-014-2949-y