Liver X Receptor-α polymorphisms (rs11039155 and rs2279238) are associated with susceptibility to vitiligo

• Two SNPs (rs11039155 and rs2279238) of LXR-alpha were genotyped in Indian population.
• Both these SNPs are associated with vitiligo risk in Indian population.
• In dominant and co-dominant models, rs11039155 predisposes individuals to vitiligo.
• In recessive and homozygous models, rs2279238 predisposes individuals to vitiligo.

Vitiligo is a complex genetic skin depigmentation disorder caused by the destruction of melanocyte from the lesional site. Liver X Receptor-α (LXR-α) expression is upregulated in the melanocytes from perilesional skin as compared to the normal skin of vitiligo patient suggesting its involvement in vitiligo pathogenesis. Polymorphisms in LXR-α have been associated with several diseases including cardiovascular disease, polycystic ovary syndrome, cancer, inflammatory bowel disease and diabetes. In this study, for the first time, we have investigated the association of LXR-α gene polymorphisms and risk of vitiligo. Sixty six vitiligo patients and 75 matched healthy control subjects who did not have any history of vitiligo or any other autoimmune disorder were recruited. The DNA isolated from patients and healthy controls was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for both rs11039155 (− 6 G > A) and rs2279238 (+ 1257 C > T) variants. Our data suggest significant association between the LXR-α gene polymorphisms and vitiligo susceptibility (rs11039155: odds ratio (OR) = 1.99, 95% CI = 1.07–3.71, p = 0.03; rs2279238: OR = 1.70, 95% CI = 1.06–2.73, p = 0.027). Our results provide an evidence that the LXR-α − 6A and + 1257T alleles contribute to risk of vitiligo in North Indian population and highlight the importance of this gene in the vitiligo pathogenesis.