ABSTRACT
Acne vulgaris is a common skin disorder. The complete etiology of this disease remains to be identified; however, it seems that aberrant expression of cytokine genes might be a contributing factor. This study aimed to investigate the association of genetic polymorphisms related to interleukin 4 [IL-4] promotor and receptor [IL-4R] genes as inflammatory modulators with acne vulgaris. A case-control study 95 acne patients recruited from outpatient dermatology clinics affiliated with Qassim University, Qassim, Saudi Arabia. Acne patient data were compared with 87 normal healthy unrelated controls from the same locality. The genomic DNA was extracted and processed using the real-time polymerase chain reaction amplification for characterization of polymorphisms related to IL-4 [-590 T/C] and IL-4R [Q551R A/G] genes. Acne patients compared to controls showed no significant difference in the frequencies of IL-4 [-590 T/C] polymorphic genotypes [P=.8], yet had a highly significant difference in IL-4R [Q551R A/G] genotypes [P<.001]. The frequencies of the mutant genotype IL-4R GG as well as the allele IL-4R G were significantly higher in cases of acne than in controls. Furthermore, acne cases showed higher frequencies of combined genotypes IL4R_GG with IL-4_CC, CT, or TT. However, no significant difference was noted on comparing subgroups related to disease severity or response to treatment [P>.05]. This study provides evidence for a significant association of IL-4R [Q551R A/G] genetic polymorphisms with the susceptibility rather than the severity of acne vulgaris