The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis.
BACKGROUND
The genetic background of atopic dermatitis (AD) is complex, involves many genes and their participation varies in varied populations, and depends on the intensity and course of a disease. Changes in the nucleotide sequence of the FLG gene and a reduced number or a deficit of the functional product of processed profilaggrin can be one of risk factors for atopic dermatitis.


OBJECTIVE
To determine the prevalence of R501X and 2282del4 mutations of the FLG gene in patients with AD.


METHODS
The studied group included 60 patients with clinically diagnosed AD, and the control group included 61 healthy volunteers. The study protocol included collection of biological material for tests, DNA isolation and evaluation of its quality and quantity, and PCR amplification of the isolated genetic material.


RESULTS
In the studied group, both changes in the nucleotide sequence of the FLG gene were detected and in the control group no tested mutations were detected. In 18 (30%) patients with AD, 22 mutations (4 heterozygous and 1 homozygous ones of R501X and 10 heterozygous and 7 homozygous ones of 2282del4) were detected.


CONCLUSIONS
A high rate of mutations of the FLG gene in patients with clinically diagnosed AD and pathologically dry skin was observed in the studied population. The 2282del4 mutation occurred more often than R501X.
Department of Cosmetology and Aesthetic Dermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Magdalena
M
Woźniak
Department of Cosmetology and Aesthetic Dermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Elżbieta
E
Kaczmarek-Skamira
Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Krystyna
K
Romańska-Gocka
Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Rafał
R
Czajkowski
Department of Cosmetology and Aesthetic Dermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Lucyna
L
Kałużna
Department of Cosmetology and Aesthetic Dermatology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Barbara
B
Zegarska
atopic dermatitis; dry skin; filaggrin; mutations