Objectives: Immunogenetic factors are known to play a role in the pathogenesis of alopecia areata (AA). This study aimed at investigating the association between AA with the polymorphisms of interleukin-4 (IL-4) promoter and receptor (IL-4R) genes.
Patients and methods: This work is a case-control study that was conducted on 76 AA patients from Qassim region, Saudi Arabia. Patients were compared with 93 normal healthy controls from the same locality. Genomic DNA was extracted and processed using real-time PCR amplification for characterization of IL-4 -590 T>C and IL-4R Q551R A>G gene polymorphisms.
Results: Cases of AA showed a higher frequency of the IL-4 -590 CC homozygous genotype compared with controls (63.2 vs. 53.8%, P>0.05) with a lower frequency of the TT genotype (5.3 vs. 10.8%); yet, both were statistically nonsignificant (P>0.05). Regarding the IL-4R Q551R A>G polymorphism, cases and controls showed nearly equal frequencies of all variants, that is, with no significant difference. Although the frequency of the IL-4 C and the IL-4R A alleles was higher among cases than among controls (78.9 vs. 71.5% and 78.8 vs. 72.6%, respectively), this was also statistically nonsignificant (P>0.05). Comparing case subgroups in terms of their age of onset, sex, disease severity, consanguinity, and family history showed no statistically significant difference regarding the studied genetic variant.
Conclusion: IL-4 -590 and IL-4R Q551R gene polymorphisms are not associated with the susceptibility and the clinical pattern of AA in Saudi patients. We recommend further research studies involving the estimation of cytokines both in the serum and in the local skin lesions or in cultured skin cells to figure out whether Th1 or Th2 pathways play a specific role in the pathogenesis of AA.