Background: Hypoxia inducible factor-1 alpha (HIF-1α) is the key regulator of cellular responses to hypoxiaand plays a central role in tumour growth. Presence of Single nucleotide polymorphisms (SNPs) in the criticalregulatory domains of HIF-1α may result in the overexpression of the protein and subsequent changes in theexpression 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-1α with the risk of breast cancer in North Indian sporadic breastcancer patients. Materials and
Methods: A total of 400 subjects, including 200 healthy controls and 200 patientswith 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 frequencyof HIF-1α g.C111A polymorphism was 100 vs 99% and 0 vs 1% in breast cancer patients and healthy controlsrespectively. The frequencies of CC, CT and TT genotype of g.C1772T polymorphism were 76 vs 74.5%, 19vs 21% and 5 vs 4.5% in breast cancer patients and control individuals respectively. There was no significantdifference in genotype and allele frequencies of HIF-1α g.C1772T polymorphism between cases and controlindividuals (p>0.05). For g.G1790A genotypes, all patients and controls had only GG genotype.
Conclusions:The three HIF-1α polymorphisms (g.C111A, g.C1772T and g.G1790A) are not associated with breast cancerrisk in North-West Indian patients.