VDR polymorphisms ApaI (rs7975232), TaqI (rs731236) and FokI (rs2228570) in Pakistani vitiligo patients and controls

Sumaira Sajjad, Saeeda Munir, Simeen Ber Rahman, Nusrat Saba, Sadia Rehman


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.



Vitamin D receptor, vitiligo, polymorphism, polymerase chain reaction, restriction length polymorphism

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