Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci

Cookson, William; Ubhi, B; Lawrence, Robert; Abecasis, Gonçalo R.; Walley, Andrew J.; Cox, Helen; Coleman, Robert F.; Leaves, N. I.; Trembath, Richard C.; Moffatt, Miriam F.; Harper, John

doi:10.1038/86867

Cited by 344 publications

(288 citation statements)

References 14 publications

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“…Surprisingly, these regions correspond very closely to known posiasis loci, as does the previously described AEDS locus on chromosome 3q21 (65). The results indicate that AEDS is influenced by genes with general effects on skin inflammation.…”

Section: Genetic Linkage To Psoriasis Susceptibility Locisupporting

confidence: 79%

Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution

Klüken¹,

Wienker

Bieber³

2003

Allergy

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Section: Genetic Linkage To Psoriasis Susceptibility Locisupporting

confidence: 79%

Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution

Klüken¹,

Wienker

Bieber³

2003

Allergy

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“…To date, five genome-wide linkage studies have been performed in Caucasian populations (Lee et al 2000;Cookson et al 2001;Bradley et al 2002;Haagerup et al 2004) and a Japanese population (Enomoto et al 2007), and evidence for linkage to AD was obtained for several chromosomal regions. Several candidate genes, mainly immune-related genes including interleukin (IL)-4 (IL4), IL13, IL5, IL12B, and serine protease inhibitor Kazal-type 5 (SPINK5 ) have been examined for possible association with AD (Morar et al 2006).…”

Section: Introductionmentioning

confidence: 99%

Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study

et al. 2008

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Filaggrin (FLG) plays an important role in the barrier function of the skin. Several loss-of-function mutations in the FLG gene have been identified in patients with ichthyosis vulgaris, and these null mutations are associated with atopic dermatitis (AD) development. In this study, we examined tag single nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible associations with AD and atopic phenotypes in a Japanese population. Transmission disequilibrium test of 105 AD families showed that the null allele of the S2554X variant of FLG tended to be overtransmitted to AD-affected offspring; however, the P value did not reach statistical significance. In a casecontrol comparison of 376 AD cases and 923 nonallergic controls, the null allele of S2554X was significantly associated with AD (P = 0.0012), and the association was strengthened in subjects with AD alone (P = 0.000024). We found that 3321delA and S2554X were also associated with elevated levels of immunoglobulin E (IgE). Combined null mutation carriers were observed more in AD patients and in subjects with high IgE than in control subjects. The combined P value for the family and case-control data was significant for the S2554X and combined null mutations. Our data further support the importance of FLG in AD development.

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“…Genome screens have identified at least 4 regions of genetic linkage to AD on chromosomes 1q, 3q, 3p and 17q. 32,[139][140][141] Other mapped loci using composite phenotypes of AD and asthma combined have shown genetic linkage to chromosome 20p.32 Composite phenotypes for AD with increased total serum IgE (16q) 32 and allergen specific IgE (3p, 4p, 18q)140 have also been reported. Overlap of some of these loci with psoriasis (1q, 3q, 17q, 20p) 32 138 A brief description for some of the genes is outlined below.…”

Section: A Genome Wide Screensmentioning

confidence: 99%

“…This complex is comprised of genes and gene families expressed in the terminally differentiating epithelium. 32 Gene families in the EDC include the S100 calcium binding proteins, small proline rich proteins and late expressed cornified envelope proteins. The single copy genes in EDC include trichohyalin, repetin, loricrin, filaggrin and involucrin.…”

Section: Epidermal Differentiation Complexmentioning

confidence: 99%

“…32 The region on chromosome 1q21 contains the epidermal differentiation complex (EDC) where a number of genes associated with epidermal differentiation and barrier function reside. 33,34 Recent reports have shown that two functional mutations in the epidermal differentiation complex gene filaggrin (FLG) are strongly associated with AD, the asthma often accompanying AD, 35 and also the common skin disorder ichthyosis vulgaris.…”

Section: Skin Barrier Dysfunctionmentioning

confidence: 99%

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Clinical correlations of recent developments in the pathogenesis of atopic dermatitis

Sehra

Tuana

Holbreich

et al. 2008

An. Bras. Dermatol.

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Atopic dermatitis is a chronic inflammatory skin disease with a steadily increasing prevalence affecting 10-20 % of infants and 1-3% of adults globally. It is often the first clinical manifestation of atopic disease preceding asthma and allergic rhinitis. Probably half of the children with atopic dermatitis develop some other form of atopic disease later in life. The pathogenesis involves a complex interplay of factors including genetic predisposition due to altered immune or skin barrier function, interactions with the environment such as food and allergen exposures, and infectious triggers of inflammation. In this review, we summarize the recent advances in understanding the contribution of different factors in the pathophysiology of atopic dermatitis and how insights provide new therapeutic potential for its treatment. Keywords: Asthma; Atopic Dermatitis, Eczema; Eosinophils; Genetics; Immunoglobulin E; Keratinocytes; Rhinitis, T-Lymphocytes Resumo: A dermatite atópica é uma doença cutânea inflamatória crônica cuja prevalência tem aumentado de forma constante, afetando 10-20% dos lactentes e 1-3% dos adultos em todo o mundo. Ela é freqüentemente a primeira manifestação clínica de doença atópica, precedendo a asma e a rinite alérgica. Provavelmente metade das crianças com dermatite atópica desenvolvem alguma

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Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci

Cited by 344 publications

References 14 publications

Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution

Atopic eczema/dermatitis syndrome – a genetically complex disease. New advances in discovering the genetic contribution

Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study

Clinical correlations of recent developments in the pathogenesis of atopic dermatitis

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