RESUMEN
BACKGROUND: Vitiligo is an acquired depigmentation of the skin and the mucous membranes, exhibited as white macules and patches due to selective loss of melanocytes. Etiological theories of vitiligo include genetic, immunological, neurohormonal, cytotoxic, biochemical, oxidative stress, and newer theories of melanocytorrhagy and diminished melanocytes survival. It has been revealed that liver X receptor alpha gene is expressed in skin tissue such as sebaceous glands, hair follicle, keratinocytes, and fibroblasts and is linked to various skin disorders as acne vulgaris and psoriasis. AIM OF THE STUDY: To evaluate the association between liver X receptor-α gene polymorphism (rs11039155 and rs2279238) and vitiligo and whether they are related to disease activity and severity or not. SUBJECTS AND METHODS: 50 vitiligo patients and 20 age- and sex-matched apparently healthy controls were enrolled. All the included subjects were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis technique for (-6G/A) and (+1257C/T) SNPs. RESULTS: Significant statistical difference between cases and controls regarding genotype and allele frequencies for -6G/A polymorphism with predominance of AA genotype (OR: 5.1, 95% CI: 1.6-15.9) and A allele (OR: 5.3, 95% CI: 1.6-15.9) in cases and also for +1257C/T polymorphism with predominance of TT genotype OR: 9.2 (95% CI: 1.4-82.9) and T allele OR: 3.4 (95% CI: 1.4-8.1) in vitiligo cases. No significant relationship between -6G/A genotypes nor +1257C/T genotypes and disease activity and severity. CONCLUSION: The study showed significant association between Liver X receptor gene polymorphisms (-6G/A, +1257 C/T) and development of vitiligo in Egyptian patients. However, it failed to show any relation with disease activity nor severity.