No Association of Hypoxia Inducible Factor-1α Gene Polymorphisms with Breast Cancer in North-West Indians

Sharma, Sarika; Kapahi, Ruhi; Sambyal, Vasudha; Guleria, Kamlesh; Manjari, Mridu; Sudan, Meena; Uppal, Manjit Singh; Singh, Neeti Rajan

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자료유형: 학술저널

저자정보: Sharma, Sarika (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) Kapahi, Ruhi (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) Sambyal, Vasudha (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) Guleria, Kamlesh (Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University) Manjari, Mridu (Department of Pathology, Sri Guru Ram Das Institute of Medical Sciences and Research) Sudan, Meena (Department of Radiotherapy, Sri Guru Ram Das Institute of Medical Sciences and Research) Uppal, Manjit Singh (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research) Singh, Neeti Rajan (Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제15권 제22호

발행연도: 2014.1

수록면: 9,973 - 9,978 (6page)

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Background: Hypoxia inducible factor-1 alpha (HIF-$1{\alpha}$) is the key regulator of cellular responses to hypoxia and plays a central role in tumour growth. Presence of Single nucleotide polymorphisms (SNPs) in the critical regulatory domains of HIF-$1{\alpha}$ may result in the overexpression of the protein and subsequent changes in the expression of the downstream target genes. The aim of study was to investigate the association of three SNPs (g.C111A, g.C1772T and g.G1790A) of HIF-$1{\alpha}$ with the risk of breast cancer in North Indian sporadic breast cancer patients. Materials and Methods: A total of 400 subjects, including 200 healthy controls and 200 patients with breast cancer were recruited in this study. Genotypes were determined using polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method. Results: The CC and CA genotype frequency of HIF-$1{\alpha}$ g.C111A polymorphism was 100 vs 99% and 0 vs 1% in breast cancer patients and healthy controls respectively. The frequencies of CC, CT and TT genotype of g.C1772T polymorphism were 76 vs 74.5%, 19 vs 21% and 5 vs 4.5% in breast cancer patients and control individuals respectively. There was no significant difference in genotype and allele frequencies of HIF-$1{\alpha}$ g.C1772T polymorphism between cases and control individuals (p>0.05). For g.G1790A genotypes, all patients and controls had only GG genotype. Conclusions: The three HIF-$1{\alpha}$ polymorphisms (g.C111A, g.C1772T and g.G1790A) are not associated with breast cancer risk in North-West Indian patients.

#Breast cancer #hypoxia #polymorphism #lack of relationship

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