Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

Weidinger, Stephan; Illig, Thomas; Baurecht, Hansjörg; Irvine, Alan D.; Rodríguez, Elke; Díaz-Lacava, Amalia; Klopp, Norman; Wagenpfeil, Stefan; Zhao, Yiwei; Liao, Hong; Lee, Simon P.; Palmer, Colin N.A.; Jenneck, Claudia; Maintz, Laura; Hagemann, Tobias; Behrendt, Heidrun; Ring, Johannes; Nöthen, Markus M.; McLean, W.H. Irwin; Novak, Natalija

doi:10.1016/j.jaci.2006.05.004

Cited by 548 publications

(452 citation statements)

References 35 publications

(36 reference statements)

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“…A number of studies have been conducted to replicate the original findings, and some have confirmed and others refuted the association of FLG with AD (Marenholz et al 2006;Ruether et al 2006;Weidinger et al 2006Weidinger et al , 2007Barker et al 2007;Morar et al 2007;Stemmler et al 2007). To examine the association of common FLG variants with AD development, we performed tSNP analysis of Japanese AD families and case-control subjects.…”

Section: Discussionmentioning

confidence: 98%

“…FLG null alleles were also found to be associated with elevated levels of immunoglobulin E (IgE) (Weidinger et al 2006(Weidinger et al , 2007 and allergic sensitization (Weidinger et al 2006), and Marenholz et al (Marenholz et al 2006) reported that those mutations predispose carriers to asthma, allergic rhinitis, and allergic sensitization only in the presence of AD. Other FLG null mutations have also been found to be associated with AD in a Caucasian population ).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 98%

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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“…(41)(42)(43)(44) Genetic associations of FLG mutations with AD were confirmed and further verified by many independent groups using numerous cohorts of different populations e.g. American, (45) Caucasian and Northern-American AD, (2) European and Asian ancestry, (43,(46)(47)(48)(49)(50)(51) Chinese, (52) German, (53) Irish, (43) and Japanese. (54) More than 40 FLG loss-of-function mutations have been described in Europeans and Asians.…”

Section: -Filaggrin Genementioning

confidence: 67%

Molecular Genetic of Atopic Dermatitis : An Update

Al‐Shobaili

Ahmed

Alnomair

et al. 2016

IJHS

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Atopic dermatitis (AD) is a chronic multifactorial inflammatory skin disease. The pathogenesis of AD remains unclear, but the disease results from dysfunctions of skin barrier and immune response, where both genetic and environmental factors play a key role. Recent studies demonstrate the substantial evidences that show a strong genetic association with AD. As for example, AD patients have a positive family history and have a concordance rate in twins. Moreover, several candidate genes have now been suspected that play a central role in the genetic background of AD. In last decade advanced procedures similar to genome-wide association (GWA) and single nucleotide polymorphism (SNP) have been applied on different population and now it has been clarified that AD is significantly associated with genes of innate/adaptive immune systems, human leukocyte antigens (HLA), cytokines, chemokines, drug-metabolizing genes or various other genes. In this review, we will highlight the recent advancements in the molecular genetics of AD, especially on possible functional relevance of genetic variants discovered to date.

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“…35 Other studies demonstrated that these mutations result in an extrinsic AD in patients suggesting that the skin barrier defect precedes the development of allergic sensitization in AD. 157 Since FLG mutations have not been commonly described in other non European populations, studies have analyzed mutations in other ancestral groups to determine the contribution of FLG mutations to AD pathogenesis worldwide. 158 In this regard, two novel FLG mutations reported in Japanese IV patients have recently been associated with AD.…”

Section: Epidermal Differentiation Complexmentioning

confidence: 99%

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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Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

Cited by 548 publications

References 35 publications

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

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

Molecular Genetic of Atopic Dermatitis : An Update

Clinical correlations of recent developments in the pathogenesis of atopic dermatitis

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