Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)

Ludovica Segat, Rafael L. Guimarães, Lucas A C Brandão, Cintia R C Rocha, Valentina Zanin, Chiara Trevisiol, José Luiz de Lima Filho, Sergio Crovella

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: Atopic dermatitis (AD) is a common inflammatory skin disease resulting from the interplay between environmental, immunological and genetic factors. In our study, we investigated the role of three single nucleotide polymorphisms (SNPs) at 5'-UTR of DEFB1 gene, encoding for the human beta defensin-1, on the susceptibility to develop AD in a group of Brazilian children and adolescents. Methods: Three SNPs, -20 G/A (rs11362), -44 C/G (rs1800972), and -52 G/A (rs1799946) at 5'-UTR of DEFB1 gene were genotyped in two groups of children and adolescents, one affected by AD (96 subjects), the other healthy (191 individuals), from northeast Brazil. Results: -44 C/G frequencies were comparable between the two groups. The -20 GG genotype was more frequent in AD subjects than in healthy controls; the -52 GG, conversely, was more frequent in healthy controls than in AD. However, both these differences did not reach statistical significance. Also, association between SNPs and AD severity has been shown. The analysis of DEFB1 haplotypes did not highlight any association of the three SNPs with AD development or disease severity. Conclusions: Our results seem to exclude a role for the -44 C/G DEFB1 SNPs on the pathogenesis and severity of AD, while for the -20 C/G and -52 G/A, even if not statistically significant, we evidenced a slight trend for susceptibility (-20 GG) and protection (-52 GG) for the development of AD. However, as controversial findings have been reported in the literature, the role of DEFB1 in the development of AD and in the severity of the phenotype deserves further investigation.

Original languageEnglish
Pages (from-to)653-657
Number of pages5
JournalInternational Journal of Dermatology
Volume49
Issue number6
DOIs
Publication statusPublished - 2010

Fingerprint

beta-Defensins
Atopic Dermatitis
Brazil
Genes
Single Nucleotide Polymorphism
5' Untranslated Regions
Healthy Volunteers
Immunologic Factors
Skin Diseases
Haplotypes
Genotype

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). / Segat, Ludovica; Guimarães, Rafael L.; Brandão, Lucas A C; Rocha, Cintia R C; Zanin, Valentina; Trevisiol, Chiara; de Lima Filho, José Luiz; Crovella, Sergio.

In: International Journal of Dermatology, Vol. 49, No. 6, 2010, p. 653-657.

Research output: Contribution to journalArticle

Segat, Ludovica ; Guimarães, Rafael L. ; Brandão, Lucas A C ; Rocha, Cintia R C ; Zanin, Valentina ; Trevisiol, Chiara ; de Lima Filho, José Luiz ; Crovella, Sergio. / Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). In: International Journal of Dermatology. 2010 ; Vol. 49, No. 6. pp. 653-657.
@article{88076f7221ad4067832938ebfcb83f46,
title = "Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)",
abstract = "Background: Atopic dermatitis (AD) is a common inflammatory skin disease resulting from the interplay between environmental, immunological and genetic factors. In our study, we investigated the role of three single nucleotide polymorphisms (SNPs) at 5'-UTR of DEFB1 gene, encoding for the human beta defensin-1, on the susceptibility to develop AD in a group of Brazilian children and adolescents. Methods: Three SNPs, -20 G/A (rs11362), -44 C/G (rs1800972), and -52 G/A (rs1799946) at 5'-UTR of DEFB1 gene were genotyped in two groups of children and adolescents, one affected by AD (96 subjects), the other healthy (191 individuals), from northeast Brazil. Results: -44 C/G frequencies were comparable between the two groups. The -20 GG genotype was more frequent in AD subjects than in healthy controls; the -52 GG, conversely, was more frequent in healthy controls than in AD. However, both these differences did not reach statistical significance. Also, association between SNPs and AD severity has been shown. The analysis of DEFB1 haplotypes did not highlight any association of the three SNPs with AD development or disease severity. Conclusions: Our results seem to exclude a role for the -44 C/G DEFB1 SNPs on the pathogenesis and severity of AD, while for the -20 C/G and -52 G/A, even if not statistically significant, we evidenced a slight trend for susceptibility (-20 GG) and protection (-52 GG) for the development of AD. However, as controversial findings have been reported in the literature, the role of DEFB1 in the development of AD and in the severity of the phenotype deserves further investigation.",
author = "Ludovica Segat and Guimar{\~a}es, {Rafael L.} and Brand{\~a}o, {Lucas A C} and Rocha, {Cintia R C} and Valentina Zanin and Chiara Trevisiol and {de Lima Filho}, {Jos{\'e} Luiz} and Sergio Crovella",
year = "2010",
doi = "10.1111/j.1365-4632.2009.04343.x",
language = "English",
volume = "49",
pages = "653--657",
journal = "International Journal of Dermatology",
issn = "0011-9059",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)

AU - Segat, Ludovica

AU - Guimarães, Rafael L.

AU - Brandão, Lucas A C

AU - Rocha, Cintia R C

AU - Zanin, Valentina

AU - Trevisiol, Chiara

AU - de Lima Filho, José Luiz

AU - Crovella, Sergio

PY - 2010

Y1 - 2010

N2 - Background: Atopic dermatitis (AD) is a common inflammatory skin disease resulting from the interplay between environmental, immunological and genetic factors. In our study, we investigated the role of three single nucleotide polymorphisms (SNPs) at 5'-UTR of DEFB1 gene, encoding for the human beta defensin-1, on the susceptibility to develop AD in a group of Brazilian children and adolescents. Methods: Three SNPs, -20 G/A (rs11362), -44 C/G (rs1800972), and -52 G/A (rs1799946) at 5'-UTR of DEFB1 gene were genotyped in two groups of children and adolescents, one affected by AD (96 subjects), the other healthy (191 individuals), from northeast Brazil. Results: -44 C/G frequencies were comparable between the two groups. The -20 GG genotype was more frequent in AD subjects than in healthy controls; the -52 GG, conversely, was more frequent in healthy controls than in AD. However, both these differences did not reach statistical significance. Also, association between SNPs and AD severity has been shown. The analysis of DEFB1 haplotypes did not highlight any association of the three SNPs with AD development or disease severity. Conclusions: Our results seem to exclude a role for the -44 C/G DEFB1 SNPs on the pathogenesis and severity of AD, while for the -20 C/G and -52 G/A, even if not statistically significant, we evidenced a slight trend for susceptibility (-20 GG) and protection (-52 GG) for the development of AD. However, as controversial findings have been reported in the literature, the role of DEFB1 in the development of AD and in the severity of the phenotype deserves further investigation.

AB - Background: Atopic dermatitis (AD) is a common inflammatory skin disease resulting from the interplay between environmental, immunological and genetic factors. In our study, we investigated the role of three single nucleotide polymorphisms (SNPs) at 5'-UTR of DEFB1 gene, encoding for the human beta defensin-1, on the susceptibility to develop AD in a group of Brazilian children and adolescents. Methods: Three SNPs, -20 G/A (rs11362), -44 C/G (rs1800972), and -52 G/A (rs1799946) at 5'-UTR of DEFB1 gene were genotyped in two groups of children and adolescents, one affected by AD (96 subjects), the other healthy (191 individuals), from northeast Brazil. Results: -44 C/G frequencies were comparable between the two groups. The -20 GG genotype was more frequent in AD subjects than in healthy controls; the -52 GG, conversely, was more frequent in healthy controls than in AD. However, both these differences did not reach statistical significance. Also, association between SNPs and AD severity has been shown. The analysis of DEFB1 haplotypes did not highlight any association of the three SNPs with AD development or disease severity. Conclusions: Our results seem to exclude a role for the -44 C/G DEFB1 SNPs on the pathogenesis and severity of AD, while for the -20 C/G and -52 G/A, even if not statistically significant, we evidenced a slight trend for susceptibility (-20 GG) and protection (-52 GG) for the development of AD. However, as controversial findings have been reported in the literature, the role of DEFB1 in the development of AD and in the severity of the phenotype deserves further investigation.

UR - http://www.scopus.com/inward/record.url?scp=77954187079&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77954187079&partnerID=8YFLogxK

U2 - 10.1111/j.1365-4632.2009.04343.x

DO - 10.1111/j.1365-4632.2009.04343.x

M3 - Article

C2 - 20618470

AN - SCOPUS:77954187079

VL - 49

SP - 653

EP - 657

JO - International Journal of Dermatology

JF - International Journal of Dermatology

SN - 0011-9059

IS - 6

ER -