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Polymorphisms of the Bcl‐2 family member bfl‐1 in children with atopic dermatitis
Author(s) -
Gray Andrew,
Stewart Helen,
Pravica Vera,
Fryer Anthony A.,
Lenney Warren,
Hutchinson Ian V.,
Arkwright Peter D.
Publication year - 2006
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/j.1399-3038.2006.00468.x
Subject(s) - atopic dermatitis , single nucleotide polymorphism , genotype , medicine , genetic predisposition , immunology , exon , haplotype , gene , atopy , polymorphism (computer science) , genetics , allergy , disease , biology
T lymphocytes accumulating in the skin of patients with atopic dermatitis (AD) have a prolonged survival and are key mediators of this inflammatory disease. The anti‐apoptotic bfl‐1 gene is unique in that it is the only member of the Bcl‐2 family that is transcriptionally regulated by inflammatory cytokines and might therefore be important in promoting the survival of effector T cells in patients with AD. The aim of this study was to determine whether polymorphisms in the bfl‐1 gene are associated with a predisposition to childhood AD. Four bfl‐1 gene, single nucleotide polymorphisms (SNPs) were studied by ARMS‐PCR in 105 Caucasian children with moderately severe AD and 110 non‐atopic adult controls. In addition to the known polymorphisms of exon 1 (+141*A/G, +202*G/T, +303*A/G), we described a novel polymorphism in the promoter region of the gene (−1182*G/C). We found a significant difference in bfl‐1 +141 genotype [OR (95% CI) 5.1 (1.0–25.2)], as well as bfl‐1 −1182:+141:+202:+303 G:A:G:A/G:A:G:A diplotype frequencies [3.5 (1.0–12.2)] in AD (p < 0.05). The study thus provides evidence for an association between bfl‐1 polymorphisms and the genetic predisposition to AD.