Reyhaneh Abgoon
Islamic Azad University, Iran
Title: Investigation of IL-12B gene polymorphism (rs3212227) in Iranian patients with Alopecia areata
Biography
Biography: Reyhaneh Abgoon
Abstract
Objective
Alopecia areata (AA) is an autoimmune disease characterized by patchy hair loss affecting both scalp and body hair. Although the etiology and pathogenesis of this disease is still unknown, a polymorphism within IL-12B gene have been described in few studies to be associated with AA susceptibility. Yet, these findings had so far not been independently replicated, and no data on a possible association of IL-12B mutation and AA in Iranian population were available.
Methods
This study contains 30 AA patients and 15 healthy controls. Genomic DNA was isolated using DNG-plus and PCR-RFLP analysis was performed to detect IL-12B rs3212227 polymorphism. Several relevant information such as demographic data (age, gender, …) or clinical characteristics were analyzed for a possible effect of these factors on susceptibility to AA in patients who carry CC, AC, and AA genotypes.
Results
No association between the IL-12B rs3212227 mutation and susceptibility to AA was observed in our Iranian cohort. PCR-RFLP results showed that frequency of CC genotype (13.3% vs. 6.6%) are similar in both patient and control groups. AC genotype was detected in 46.6% and 6.6% of patients and controls, respectively. The AA genotype which is wild genotype had higher frequency in healthy individuals. Statistical analysis indicate that there no significant difference in distribution of genotypes between patients and controls (P= 0.12). Although the C allele frequency of IL-12B was higher in the patients than control subjects (36.6% vs. 10% respectively) but there is no significant difference (P= 0.12).
Conclusion
We here demonstrate that the IL-12B rs3212227 polymorphism is not associated with the risk to develop AA in our Iranian cohort. Therefore, this study failed to confirm reported association between gene mutation and susceptibility to AA. Hence, the genetic predisposition to develop AA greatly varies among different ethnic groups.