eISSN: 2299-0046
ISSN: 1642-395X
Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
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SCImago Journal & Country Rank
1/2020
vol. 37
 
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abstract:
Original paper

Chromosome 11q13.5 variant as a risk factor for atopic dermatitis in children

Anna Dębińska
,
Hanna Danielewicz
,
Anna Drabik-Chamerska
,
Danuta Kalita
,
Andrzej Boznański

Adv Dermatol Allergol 2020; XXXVII (1): 103-110
Online publish date: 2020/03/09
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Introduction
Atopic dermatitis is a chronic inflammatory skin disease with a strong genetic basis. Recent GWASs have identified a single nucleotide polymorphism on chromosome 11q13.5 (rs7927894) as novel susceptibility loci of atopic dermatitis.

Aim
To evaluate the association of this genetic variant with atopic dermatitis and to investigate its possible interaction with filaggrin null mutations in children population.

Material and methods
One hundred eighty-eight children less than 2 years old were screened for the variant of allele of rs7927894 on chromosome 11q13.5 and for the 4 most prevalent filaggrin mutations. The variant of allele of rs7927894 and all filaggrin mutations were genotyped by real-time PCR assays with subsequent melting curve analysis using SimpleProbe® probes.

Results
The allele of rs7927894[T] was associated with a significantly increased risk of atopic dermatitis (OR = 2.21; 95% CI: 1.14–4.28; p = 0.015). Both allergic and non-allergic patient groups had rs7927894[T] allele significantly more frequently than the control group, however, the frequency of alleles did not differ in these two groups. Interestingly, when rs7927894 variant and filaggrin mutations were considered together, the risk of atopic dermatitis was the most increased in the subjects who combined both rs7927894[T] allele and filaggrin mutations (OR = 16.41; p = 0.003).

Conclusions
Our results indicate that the rs7927894 variant on chromosome 11q13.5 may play a role in the development of atopic dermatitis, but this effect seems to be independent of allergic sensitization and of the well-established filaggrin risk alleles, but may be modulated by gene-gene interactions.

keywords:

chromosome 11q135, filaggrin, genetic association, eczema

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