eISSN: 2299-0046
ISSN: 1642-395X
Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
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SCImago Journal & Country Rank
1/2016
vol. 33
 
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abstract:
Original paper

Coexistence of 2282del4 FLG gene mutation and IL-18 –137G/C gene polymorphism enhances the risk of atopic dermatitis

Magdalena Trzeciak
,
Jolanta Gleń
,
Krzysztof Rębała
,
Tadeusz Bandurski
,
Monika Sikorska
,
Roman Nowicki

Adv Dermatol Allergol 2016; XXXIII (1): 57–62
Online publish date: 2016/02/29
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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.
keywords:

filaggrin, interleukin 18, interleukin 13, atopic dermatitis

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