|Aleksandra Lesiak, Karolina Przybyłowska, Marcin Zakrzewski, Iwona Stelmach, Piotr Kuna, Michael van Geel, Anna Sysa-Jedrzejowska, Joanna Narbutt|
Introduction. The impairment of the epidermal barrier is one of the
most important factors playing the role in atopic dermatitis development.
One of the proteins strongly involved in the proper function of
the epidermal barrier if filaggrin.
Aim. The aim of the study was to assess the frequency of two mutations:
R501X and 2282del4 in FLG in the Polish population of AD
Material and method. The study included 163 AD patients (97 women
and 66 men) and 204 healthy volunteers, age and sex matched.
AD was diagnosed by the criteria proposed by Hanifin and Rajka and
the intensity of AD was assessed according to Rajka and Langeland
criteria. R510X and 2282del4 mutations were assessed in all AD patiens
and healthy subjects by polymerase chain reaction.
Results. The differences in R501X occurrence in AD patients and in the
controls were not significant (p=0.499). 2282del4 FLG mutation (Aa
and aa genotypes) occurred more frequently in AD patients when compared
to the controls (p <0,001). The presence of 2282del4 mutation
is connected with a 6-fold higher risk for AD development (OR=5.76)
while the combined presence of 2282del4 and R501X – 4-fold
(OR=4.2). Moreover, the presence of 2282del4 mutation correlated
with AD of moderate to severe course (OR=2.34; p=0.034), early
onset (before 3 years old) of asthma (OR=11.43; p=0.02), and palms
hyperlinearity (OR=10.62; p<0.05).
Conclusions. In the Polish AD patients the presence of 2282del4 FLG
mutation predisposes to AD development, determines its course and
clinical picture and early onset of asthma.
keywords: atopowe zapalenie skóry, mutacje w genie filagryny R501X i 2282del4, patogeneza,atopic dermatitis, R501X and 2282del4 filaggrin mutations, pathogenesis
pages: from 162 to 169
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