Trzeciak Magdalena, Gleń Jolanta, Rębała Krzysztof, Bandurski Tadeusz, Sikorska Monika, Nowicki Roman
Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdansk, Poland.
Department of Forensic Medicine, Medical University of Gdansk, Gdansk, Poland.
Postepy Dermatol Alergol. 2016 Feb;33(1):57-62. doi: 10.5114/pdia.2015.48050. Epub 2016 Feb 29.
Atopic dermatitis (AD) pathogenesis appears in the context of the correlation between cornified envelope proteins and immunological factors.
To estimate the association between FLG R501X and 2282del4 gene mutations, -137 G/C IL-18 and -1112 C/T IL-13 gene polymorphisms and their influence on AD course and the risk in the Polish population.
One hundred and fifty-two AD patients and 123 healthy volunteers were included into the study. Amplification refractory mutation system - polymerase chain reaction method was used.
2282del4 FLG mutation, predominant (p = 0.04) in Polish AD patients, enhanced the risk of AD (OR = 2.35; p = 0.01) and was associated with itch (p = 0.023). GG genotype of IL-18 was prevailing in AD (p < 0.0001), associated with elevated IgE levels (p = 0.00074) and pruritus (p < 0.0001). GG genotype and G-allele in -137 position of IL-18 increased AD risk (OR = 5.4; p = 0.0001, respectively, OR = 5.3; p = 0.000029). -1112 C/T polymorphism of IL-13 was associated with elevated IgE levels (p = 0.00049), pruritus (p = 0.0005), SCORAD score (p = 0.02), concomitant asthma (p = 0.0087) and AD risk (OR = 2.02; p = 0.012). Coexistence of 2282del4 or R501X FLG gene mutation with GG genotype of IL-18 was associated with a 6-fold higher risk of AD (OR = 5.8; p = 0.00013), contrary to combined occurrence of FLG mutations with T-allele in -1112 position of IL-13 gene (OR = 0.12; p = 0.1).
2282del4 FLG mutation similarly to GG genotype and G-allele in -137 position of IL-18 gene enhance the risk of AD in the Polish population. Coexistence of FLG mutations with GG genotype of IL-18 may be helpful to estimate chances of AD development.
特应性皮炎（AD）的发病机制出现在角质化包膜蛋白与免疫因素之间的关联背景下。
评估FLG R501X和2282del4基因突变、-137 G/C IL-18和-1112 C/T IL-13基因多态性之间的关联及其对波兰人群AD病程和风险的影响。
152例AD患者和123名健康志愿者纳入研究。采用扩增阻滞突变系统-聚合酶链反应方法。
2282del4 FLG突变在波兰AD患者中占主导（p = 0.04），增加了AD风险（OR = 2.35；p = 0.01），并与瘙痒相关（p = 0.023）。IL-18的GG基因型在AD中占优势（p < 0.0001），与IgE水平升高（p = 0.00074）和瘙痒相关（p < 0.0001）。IL-18 -137位点的GG基因型和G等位基因增加了AD风险（分别为OR = 5.4；p = 0.0001，OR = 5.3；p = 0.000029）。IL-13的-1112 C/T多态性与IgE水平升高（p = 0.00049）、瘙痒（p = 0.0005）、SCORAD评分（p = 0.02）、合并哮喘（p = 0.0087）和AD风险相关（OR = 2.02；p = 0.012）。2282del4或R501X FLG基因突变与IL-18的GG基因型共存与AD风险高6倍相关（OR = 5.8；p = 0.00013），相反，FLG突变与IL-13基因-1112位点的T等位基因合并出现则不然（OR = 0.12；p = 0.1）。
2282del4 FLG突变与IL-18基因-137位点的GG基因型和G等位基因类似，增加了波兰人群的AD风险。FLG突变与IL-18的GG基因型共存可能有助于评估AD发生的可能性。
