Association of low penetrance vitamin D receptor 9I (rs757343) gene polymorphism with risk of premenopausal breast cancer

Abstract

Objective The aim of this study was to determine whether a novel polymorphism ( Tru 9I) in the low penetrance vitamin D receptor (VDR) gene is associated with risk of premenopausal breast cancer (BC). Methods This case-control study included 228 patients with BC and 503 healthy women living in Pakistan who were analyzed for the VDR Tru 9I (rs757343) single nucleotide polymorphism. BC cases were histopathologically confirmed, and all healthy controls were age-matched with patients (age range, 20–45 years). DNA was extracted, and the polymerase chain reaction and restriction fragment length polymorphism assays were performed. Results The VDR Tru 9I polymorphism was not significantly associated with premenopausal BC. However, the risk of BC was associated with the ‘uu’ genotype (odds ratio [OR], 1.141; 95% confidence interval [95% CI], 0.206–6.317). Further, mutant Tru 9I was significantly associated with Grade IV carcinoma (OR, 5.36; 95% CI, 1.181–24.338). Conclusion The VDR Tru 9I ‘uu’ genotype may increase the risk of premenopausal BC.