Association of interleukin 4 (-590 T/C) and interleukin 4 receptor (Q551R A/G) gene polymorphisms with acne vulgaris

Abstract

BACKGROUND AND OBJECTIVES 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. DESIGN AND SETTING A case-control study 95 acne patients recruited from outpatient dermatology clinics affiliated with Qassim University, Qassim, Saudi Arabia. PATIENTS AND METHODS 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. RESULTS 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 IL-4R_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). CONCLUSIONS 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.

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis

“…In contrast, IL1B − 511 C/T, IL4 − 590 T/C, IL10 − 1082 A/G SNPs and IL1RN variable number tandem repeats (VNTR) all showed no significant association with acne and/or acne severity in the studied populations [ 21 – 24 ]. Furthermore, a study in Saudi Arabia found that the IL4R Q551R SNP was significantly associated with acne but not acne severity [ 23 ].…”

The role of interleukin‐4 in rheumatic diseases

“…IL-4 is involved in the production of IL-17 in CIA. 27 It was reported that common variants of the IL-4/IL-13 pathway do not significantly contribute to RA susceptibility and radiological severity. 28 The levels of IL-4 in the serum and bronchoalveolar lavage fluid of RA patients with interstitial lung disease (ILD) were increased compared with RA patients without ILD.…”

“…The inhibition of IL‐17 may reduce the expression of IL‐1β and IL‐6, which will lead to the deterioration of arthritis. IL‐4 is involved in the production of IL‐17 in CIA . It was reported that common variants of the IL‐4/IL‐13 pathway do not significantly contribute to RA susceptibility and radiological severity .…”

Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study

“…In agreement, many studies have found a significant relation between acne prevalence and family history . Several genes had been studied and suggested some evidence that acne is a genetically determined disease and could be inherited …”

“…[13][14][15] Several genes had been studied [16][17][18][19] and suggested some evidence that acne is a genetically determined disease and could be inherited. 20 Genetic variations within the VDR gene may cause significant VDR dysfunction. Polymorphisms within VDR gene have been suggested to have a role in skin diseases' pathogenesis through their effect on keratinocytes proliferation and differentiation.…”