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Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco).
Int J Dermatol 2010; 49(6):653-7IJ

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.

Authors+Show Affiliations

Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Recife, Brazil. segat@burlo.trieste.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20618470

Citation

Segat, Ludovica, et al. "Beta Defensin-1 Gene (DEFB1) Polymorphisms Are Not Associated With Atopic Dermatitis in Children and Adolescents From Northeast Brazil (Recife, Pernambuco)." International Journal of Dermatology, vol. 49, no. 6, 2010, pp. 653-7.
Segat L, Guimarães RL, Brandão LA, et al. Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). Int J Dermatol. 2010;49(6):653-7.
Segat, L., Guimarães, R. L., Brandão, L. A., Rocha, C. R., Zanin, V., Trevisiol, C., ... Crovella, S. (2010). Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco). International Journal of Dermatology, 49(6), pp. 653-7. doi:10.1111/j.1365-4632.2009.04343.x.
Segat L, et al. Beta Defensin-1 Gene (DEFB1) Polymorphisms Are Not Associated With Atopic Dermatitis in Children and Adolescents From Northeast Brazil (Recife, Pernambuco). Int J Dermatol. 2010;49(6):653-7. PubMed PMID: 20618470.
* Article titles in AMA citation format should be in sentence-case
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 - 2010/7/13/entrez PY - 2010/7/14/pubmed PY - 2010/10/23/medline SP - 653 EP - 7 JF - International journal of dermatology JO - Int. J. Dermatol. VL - 49 IS - 6 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. SN - 1365-4632 UR - https://www.unboundmedicine.com/medline/citation/20618470/Beta_defensin_1_gene__DEFB1__polymorphisms_are_not_associated_with_atopic_dermatitis_in_children_and_adolescents_from_northeast_Brazil__Recife_Pernambuco__ L2 - https://doi.org/10.1111/j.1365-4632.2009.04343.x DB - PRIME DP - Unbound Medicine ER -