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Association of beta-defensin 1 single nucleotide polymorphism with atopic dermatitis.
Egypt J Immunol 2009; 16(2):125-38EJ

Abstract

Atopic dermatitis (AD) is a chronic relapsing, pruritic, inflammatory skin disease, which results from a complex interplay between genetic and environmental factors. Defensins are broadly dispersed family of antimicrobial peptides which are classified into 2 distinct families: the alpha-defensins and the beta-defensins. The primary function of defensins is to protect the skin from invasion by foreign pathogens. Previous studies suggested that single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) could be involved in the development of AD. The Aim of the study is to examine DEFB1 gene to gain a better understanding of their role in the pathophysiology of AD patients and their involvement in AD susceptibility and severity. 35 atopic patients and 10 healthy volunteers as controls were investigated. They were subjected to analysis of absolute eosinophil count, total and specific IgE and detection of Beta-defensin-1 gene polymorphism at position 692 and 1654 using PCR amplification and restriction analysis. We observed significant difference in the distribution of the DEFB1 AIG polymorphism at 692 (P<0.01) in AD patients compared to controls, but not at 1654. A statistical significant association between DEFB1 692 GG genotype and elevated total serum IgE level (P<0.01), and between DEFB1 692 GG and AG genotypes & 1654 AA genotype and high absolute eosinophil count (P<0.05) were found. Concerning Specific IgE there was significant association between DEFB1 692 GG genotype and positive specific IgE to dermatophytes and HDM (House Dust Mite) (P1<0.01) while DEFB1 1654AA genotype shows significant association with positive specific IgE to cockroaches (P<0.05). Regarding SCORAD severity index, there was significant statistical association between DEFB1 692 GG and AG & DEFB1 1654 AA and AG genotype with severe AD disease (P<0.05). The correlation between atopic markers and SCORAD severity index shows that there was a significant statistical relationship between serum levels of total IgE (P<0.01), absolute eosinophil count (P<0.01), specific IgE to cat (P<0.05), HDM (P<0.01) and cockroaches (P<0.01) and SCORAD. Our findings support previously studies suggesting that DEFB1 gene is one of the candidate genes for atopy. G allele at site 692& AA genotype at site 1654 may be useful as markers for AD susceptibility and severity

Authors+Show Affiliations

Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22059360

Citation

Mohamed, Hala Ghareeb, et al. "Association of Beta-defensin 1 Single Nucleotide Polymorphism With Atopic Dermatitis." The Egyptian Journal of Immunology, vol. 16, no. 2, 2009, pp. 125-38.
Mohamed HG, Abbas A, El-Kabarity RH, et al. Association of beta-defensin 1 single nucleotide polymorphism with atopic dermatitis. Egypt J Immunol. 2009;16(2):125-38.
Mohamed, H. G., Abbas, A., El-Kabarity, R. H., & Diab, H. M. (2009). Association of beta-defensin 1 single nucleotide polymorphism with atopic dermatitis. The Egyptian Journal of Immunology, 16(2), pp. 125-38.
Mohamed HG, et al. Association of Beta-defensin 1 Single Nucleotide Polymorphism With Atopic Dermatitis. Egypt J Immunol. 2009;16(2):125-38. PubMed PMID: 22059360.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of beta-defensin 1 single nucleotide polymorphism with atopic dermatitis. AU - Mohamed,Hala Ghareeb, AU - Abbas,Amal, AU - El-Kabarity,Rania Hamdy, AU - Diab,Heba Mahmoud El-sayed, PY - 2011/11/9/entrez PY - 2009/1/1/pubmed PY - 2012/1/20/medline SP - 125 EP - 38 JF - The Egyptian journal of immunology JO - Egypt J Immunol VL - 16 IS - 2 N2 - Atopic dermatitis (AD) is a chronic relapsing, pruritic, inflammatory skin disease, which results from a complex interplay between genetic and environmental factors. Defensins are broadly dispersed family of antimicrobial peptides which are classified into 2 distinct families: the alpha-defensins and the beta-defensins. The primary function of defensins is to protect the skin from invasion by foreign pathogens. Previous studies suggested that single nucleotide polymorphisms (SNPs) of the beta-defensin 1 gene (DEFB1) could be involved in the development of AD. The Aim of the study is to examine DEFB1 gene to gain a better understanding of their role in the pathophysiology of AD patients and their involvement in AD susceptibility and severity. 35 atopic patients and 10 healthy volunteers as controls were investigated. They were subjected to analysis of absolute eosinophil count, total and specific IgE and detection of Beta-defensin-1 gene polymorphism at position 692 and 1654 using PCR amplification and restriction analysis. We observed significant difference in the distribution of the DEFB1 AIG polymorphism at 692 (P<0.01) in AD patients compared to controls, but not at 1654. A statistical significant association between DEFB1 692 GG genotype and elevated total serum IgE level (P<0.01), and between DEFB1 692 GG and AG genotypes & 1654 AA genotype and high absolute eosinophil count (P<0.05) were found. Concerning Specific IgE there was significant association between DEFB1 692 GG genotype and positive specific IgE to dermatophytes and HDM (House Dust Mite) (P1<0.01) while DEFB1 1654AA genotype shows significant association with positive specific IgE to cockroaches (P<0.05). Regarding SCORAD severity index, there was significant statistical association between DEFB1 692 GG and AG & DEFB1 1654 AA and AG genotype with severe AD disease (P<0.05). The correlation between atopic markers and SCORAD severity index shows that there was a significant statistical relationship between serum levels of total IgE (P<0.01), absolute eosinophil count (P<0.01), specific IgE to cat (P<0.05), HDM (P<0.01) and cockroaches (P<0.01) and SCORAD. Our findings support previously studies suggesting that DEFB1 gene is one of the candidate genes for atopy. G allele at site 692& AA genotype at site 1654 may be useful as markers for AD susceptibility and severity SN - 1110-4902 UR - https://www.unboundmedicine.com/medline/citation/22059360/Association_of_beta_defensin_1_single_nucleotide_polymorphism_with_atopic_dermatitis_ L2 - http://www.diseaseinfosearch.org/result/9652 DB - PRIME DP - Unbound Medicine ER -