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HIF-1 alpha (1772C > T) polymorphism as marker for breast cancer development

Meka, Phanni Bhushann and Cingeetham, Anuradha and Nanchari, Santhoshi Rani and Damineni, Surekha and Tipirisetti, Nageshwa Rao and Gorre, Manjula and Jarjapu, Sarika and Annamaneni, Sandhya and Digumarthi, Raghunadha Rao and Satti, Vishnupriya (2015) HIF-1 alpha (1772C > T) polymorphism as marker for breast cancer development. In: TUMOR BIOLOGY, 36 (5). pp. 3215-3220.

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Official URL: http://dx.doi.org/ 10.1007/s13277-014-2949-y


Hypoxia-inducible factor 1 alpha (HIF-1 alpha) is an important transcription factor that regulates different cellular responses to hypoxia. HIF-1 alpha is rapidly degraded by von Hippel-Lindau (VHL) protein under normoxic conditions and stabilized under hypoxia. A common variant of HIF-1 alpha (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-1 alpha (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-1 alpha (1772C > T) (rs 11549465) polymorphism.

Item Type: Journal Article
Publication: TUMOR BIOLOGY
Publisher: SPRINGER
Additional Information: Copy right for this article belongs to the SPRINGER, VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS
Keywords: HIF-1 alpha; Breast cancer; Polymorphism; PCR-RFLP
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 26 Jun 2015 07:12
Last Modified: 05 Mar 2019 11:05
URI: http://eprints.iisc.ac.in/id/eprint/51780

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