Association of VEGF and VEGFR1 polymorphisms with breast cancer risk in North Indians

• Published in: Tumor biology 2015-06, Vol.36 (6), p.4223-4234
• Main Authors: Kapahi, Ruhi, Guleria, Kamlesh, Sambyal, Vasudha, Manjari, Mridu, Sudan, Meena, Uppal, Manjit Singh, Singh, Neeti Rajan
• Format: Article
• Language: English
• Subjects: Adult; Aged; Angiogenesis; Asian Continental Ancestry Group; Biomedical and Life Sciences; Biomedicine; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Breast Neoplasms, Male - genetics; Breast Neoplasms, Male - pathology; Cancer Research; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Humans; India; Linkage Disequilibrium; Male; Middle Aged; Polymorphism; Polymorphism, Single Nucleotide; Research Article; Vascular endothelial growth factor; Vascular Endothelial Growth Factor A - genetics; Vascular Endothelial Growth Factor Receptor-1 - genetics
• ISSN: 1010-4283; 1423-0380
• DOI: 10.1007/s13277-015-3059-1

The aim of present study was to evaluate the relationship between vascular endothelial growth factor ( VEGF ) −2578C/A, −2549I/D, −460T/C and −7C/T and VEGFR1 −710C/T polymorphisms with risk to breast cancer in North Indians. A total of 204 sporadic breast cancer patients and 204 controls were recruited for this case-control study. Significantly increased frequency of II genotype of −2549I/D polymorphism was observed in patients as compared to control individuals (odds ratio (OR) = 2.76, 95 % confidence interval (CI), 1.55–4.92; p  = 0.0005). VEGF −2578AA genotype (OR = 2.87; 95 % CI, 1.61–5.10; p  = 0.0003) and A allele (OR = 1.65, 95 % CI, 1.25–2.18; p  = 0.0004) were found to be associated with increased risk for breast cancer. Individuals carrying CC genotype (OR = 2.23, 95 % CI, 1.25–3.97) and C allele (OR = 1.42, 95 % CI, 1.07–1.87) of VEGF −460T/C polymorphism were at higher risk of breast cancer. There was no significant difference in genotype and allele distribution of VEGF −7C/T and VEGFR 1 −710C/T polymorphisms between cases and control individuals ( p  > 0.05). Linkage disequilibrium analysis showed a strong linkage between VEGF −2549I/D and −2578C/A polymorphisms (Lewontin’s D ′  = 0.99; r 2  = 0.97), −2549I/D and −460T/C ( D ′  = 0.94; r 2  = 0.84), and −2578C/A and −460T/C polymorphisms ( D ′  = 0.93; r 2  = 0.83). In the present study, we concluded that VEGF − 2549I/D, −2578C/A and −460T/C polymorphisms are associated with risk to breast cancer in Punjab, North India.