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.
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Acknowledgements
This work was supported by a grant from The Financial Markets Foundation for Children. NJ is a Clancy-Donald Fellow at Westmead Hospital, a position supported by an education grant from Pfizer Australia. We thank Drs Jacqui Matulich, Paul Chee, Stephen Wu, Peter Hogan and Maureen Rogers (Westmead Hospital), and Drs Susan Forrest, Kate Elliott, Bob Williamson and David Hill (Murdoch Childrens Research Institute, Melbourne) for family recruitment and DNA collection. We also acknowledge the many families who took part in this study.
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Jang, N., Stewart, G. & Jones, G. Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis. Genes Immun 6, 262–264 (2005). https://doi.org/10.1038/sj.gene.6364169
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DOI: https://doi.org/10.1038/sj.gene.6364169
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