title: Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis.
abstract: Atopic dermatitis is an increasingly common and debilitating childhood disorder that is often accompanied by asthma and allergic rhinitis. Although the pathology of these disorders is distinct, the majority of cases are atopic, typified by elevated serum IgE. A new locus at chromosome 13q14 centred on the genes SETDB2 and PHF11 and associated with increased total serum IgE has recently been identified. Although the precise functions of SETDB2 and PHF11 are not known, both proteins are expressed in cells of the immune system and include conserved domains that suggest a role in chromatin remodelling or transcriptional regulation, respectively. In a family-based association study across the SETDB2 and PHF11 genes, we have identified two single-nucleotide polymorphisms in the PHF11 gene significantly associated with childhood atopic dermatitis in an Australian cohort. These results provide further evidence that this locus is a novel and important regulator of human atopic disease.
authors.affiliation: Institute for Immunology and Allergy Research (Westmead Millennium Institute), University of Sydney, Westmead Hospital, Westmead, NSW, Australia.
authors.forename: N
authors.initials: N
authors.lastname: Jang
authors.forename: G
authors.initials: G
authors.lastname: Stewart
authors.forename: G
authors.initials: G
authors.lastname: Jones
mesh_terms: D002882:Chromosomes, Human, Pair 13; D004268:DNA-Binding Proteins / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C493258:PHF11 protein, human; D014157:Transcription Factors