A case control study of the oestrogen receptor beta (ER) gene polymorphism (rs1255953 SNP) in patients with alopecia areata

Abstract

BackgroundAlopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease phenomenon, mediated by T lymphocytes, resulting from disturbances in hair follicle immune privilege with genetic predisposition and environmental trigger that targets anagen hair follicles. ObjectivesTo investigate the association between the rs1255953 variant of ESRβ gene and the risk of AA in a sample of the Egyptian population aiming at predicting individual susceptibility, disease severity and outcomes. MethodsA case-control study of 116 AA patients and 116 matched healthy controls. The most frequent variants in the ESRβ gene rs1255953 (C/T) polymorphism were selected and genotyped using Real-Time polymerase chain reaction technology. ResultsAllelic discrimination analysis revealed that the heterozygote genotype CT of ESR2 rs1255953 polymorphism was more prevalent in AA female patients than in controls (p-value =0.027), it was found that CT genotype increases the odds of having AA in females by 6.750 times. The rs1255953 ESRB variant was significantly higher in AA female patients than controls, especially among heterozygous and recessive models In males, ESRβ rs1255953 polymorphism had no clinical significance regarding the risk of alopecia areata. Conclusionrs1255953 CT genotype of ESRβ is a risk factor for alopecia areata in females.