Identifying genes predisposing to atopic eczema☆☆☆★★★

Forrest, Susan M.; Dunn, Karen; Elliott, Kate; Fitzpatrick, Elizabeth; Fullerton, Janice M.; McCarthy, Mark I.; Brown, Jennifer; Hill, David R.C.; Williamson, Robert

doi:10.1016/s0091-6749(99)70090-4

Cited by 89 publications

(46 citation statements)

References 26 publications

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“…The other set of candidate genes includes the numerous structures related to immunological mechanisms operative in AD. For example, on chromosome 5q31-33, the locus containing genes for the TH2 cytokines interleukin (IL)-3, IL-4, IL-5, IL 13, and granulocyte macrophage colony stimulation factor (GM-CSF) 15 has been suggested. Further studies identified variants of the IL-13 encoding region, functional mutations of the promoter region of the chemokine RANTES (Regulated on Activation, Normal T cell Expressed and Secreted)(17q11) and gain-of function polymorphisms in the alpha subunit of the IL-4 receptor (16q12) 16 .…”

Section: ) Geneticsmentioning

confidence: 99%

Atopic Dermatitis

2010

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Section: ) Geneticsmentioning

confidence: 99%

Atopic Dermatitis

2010

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“…We recruited 111 families from the Children's Hospital, Westmead 10 and the Murdoch Children's Research Institute, Melbourne. 11 Recruitment was based upon diagnosis of AD by a paediatric dermatologist and was accompanied by a detailed questionnaire covering the frequency and severity of AD (including medication and hospital visits) and in most cases by a severity score of AD (SCORAD) assessment. 12 The average age of presentation of AD was 3.95 years, with 84% of all children presenting before the age of 2 years.…”

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confidence: 99%

Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis

2005

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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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“…The elsewhere reported linkage to 11q13 could not be supported by the findings of this study. Furthermore, association with candidate polymorphisms in the mast cell chymase and IL4RA genes were not found here (52).…”

Section: Ige Responsivenessmentioning

confidence: 58%