Vitamin D Receptor Microsatellite Repeats in the 3’untranslated region: Relation to Early Onset Breast Cancer among Pakistani Women

Abstract

Objective:

The objective of this study is to investigate whether VDR variable-length microsatellite repeat poly (adenylate) sequence (Poly (A)) gene is an associated with early onset BC risk among Pakistani females.

Methodology:

 This study is a case control study consisting of 111 BC cases and 108 controls with age range of 20 to 40 years. DNA was isolated from leukocytes and genotyping of VDR poly (A) was performed with the help of Sanger Sequencing.

Results:

 The 3’-UTR VDR poly (A) is significantly associated (χ2 = 22.366, p-value<0.05) with BC risk; However, Poly (A) LL genotype (OR = 4.35, 95%CI = 1.593-12.024) and Poly (A) L allele (OR = 2.496; 95% CI = 1.600-3.895) increases the risk of early onset BC among cases and controls. Moreover, the disease free survival (DFS) reduces significantly with those having poly (A) SL genotype (p-value<0.05).

Conclusion:

Hence, it is concluded that a positive and statistically significant association was found between VDR Poly (A) variant and early onset BC. 

Keywords: Vitamin D Receptor; VDR; microsatellite repeat; poly (A); Breast Cancer; 3’Untranslated region