@Article{Trzeciak2016,
journal="Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii",
issn="1642-395X",
volume="33",
number="1",
year="2016",
title="Coexistence of 2282del4 FLG gene mutation and IL-18 –137G/C gene polymorphism enhances the risk of atopic dermatitis",
abstract=" Introduction : Atopic dermatitis (AD) pathogenesis appears in the context of the correlation between cornified envelope proteins and immunological factors.    Aim : 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.   Material and methods : 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.   Results : 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).    Conclusions : 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.",
author="Trzeciak, Magdalena
and Gleń, Jolanta
and Rębała, Krzysztof
and Bandurski, Tadeusz
and Sikorska, Monika
and Nowicki, Roman",
pages="57--62",
doi="10.5114/pdia.2015.48050",
url="http://dx.doi.org/10.5114/pdia.2015.48050"
}