ABSTRACT
Objective: To understand the role of three single nucleotide polymorphisms [SNP] of vitamin D receptor [VDR] gene rs7975232, rs731236 and rs2228570 in Pakistani vitiligo patients and ethnically matched controls
Methods: 196 vitiligo patients and 262 controls were included in this study. Genomic DNA was extracted and polymerase chain reaction, restriction length polymorphism [PCR-RFLP] was done
Results: Genotype CA [rs7975232] was found to be associated with susceptibility [Odd ratio=1.46, 95% CI=1.01-2.13, p=0.046] and TT genotype [rs731236] with protection [Odd ratio=0.48, 95% CI=0.25-0.92, p=0.003] to vitiligo. TT genotype for rs731236 was significantly high in controls and absent in undetermined/unclassified group of patients. Vitiligo patients and controls were also compared on the basis of gender. Genotype CA [OR=2.12, 95% CI=1.18-3.79, p=0.013] and CC [OR =0.21 95% CI=0.06-0.73, p=0.007] for rs7975232 were significantly high in male patients and controls, respectively. For rs2228570 CC genotype was significantly high in controls [OR=0.52, 95% CI=0.2-0.97], p=0.04] while TC genotype showed significant difference between patient and controls [OR=1.93, 95% CI=1.02-3.6], p=0.05]. In combined effect haplotype A-T-C was found significantly high in controls as compared with the patients [Odd ratio=0.57, 95% CI=0.34-0.97, p=0.04]
Conclusion: VDR polymorphisms may be involved in etiology of vitiligo and future studies should be design to screen large sample size for more VDR polymorphism to get more precise picture