Toward a major risk factor for atopic eczema: Meta-analysis of filaggrin polymorphism data

Baurecht, Hansjörg; Irvine, Alan D.; Novak, Natalija; Illig, Thomas; Bühler, Bettina; Ring, Johannes; Wagenpfeil, Stefan; Weidinger, Stephan

doi:10.1016/j.jaci.2007.08.067

Cited by 198 publications

(149 citation statements)

References 33 publications

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“…Subsequently an impressive series of replication studies [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] confirmed that these polymorphisms confer an exceptionally strong risk for eczema and subsequent allergen sensitization and that FLG is one of the strongest known genes for complex diseases in general [22][23][24][25] .…”

Section: Resultsmentioning

confidence: 99%

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Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger

Baurecht

Wagenpfeil

et al. 2008

Journal of Allergy and Clinical Immunology

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Section: Resultsmentioning

confidence: 99%

“…Two common null mutations in the FLG gene (R501X, 2282del4) have been firmly established as strong risk factors for eczema 22,23 . KLK7 encodes the protease SSCE, which has been suggested to be involved in the complex proteolytic processing of filaggrin.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Weidinger

Baurecht

Wagenpfeil

et al. 2008

Journal of Allergy and Clinical Immunology

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“…29 A GWA study for atopic dermatitis identified an SNP (rs7927894) on chromosome 11q13.5 with increased risk for developing atopic dermatitis of 1.47 for AA homozygotes. 22 A well-established atopic dermatitis gene FLG 35 was not found to be a 'top' significant signal, but was in close linkage with a significantly associated region located 156 kb away. 22 Himes et al 36 conducted a GWA study on 359 cases from the Childhood Asthma Management Program (CAMP) and 846 genetically matched controls, and also sought the replications in 10 independent populations.…”

Section: Findings In Several Gwa Studies On Asthmamentioning

confidence: 95%

The era of genome-wide association studies: opportunities and challenges for asthma genetics

2009

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In the era of genome-wide association (GWA) studies, delineating pathogenic asthma genetic pathways has provided both challenges and opportunities. Initial GWA studies on asthma and asthma-like phenotypes provided some successes in terms of ascertaining new potential asthma candidate genes. However, due to asthma having a heterogeneous etiology, replications of these genotype-phenotype association studies are generally lacking. Furthermore, genes by environment interactions are generally not considered when GWA studies are conducted. Therefore, there is a need for extensive collaborations in multi-disciplinary research fields, including different environments and populations, to investigate the functional importance of variations in the human genome in relation to asthma pathogenesis.

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“…Subsequently, Palmer et al showed that both the R501X and 2282del4 alleles are strong predisposing factors for AD [59]; following this initial report an impressive series of independent replication studies (for reviews, see [55,60,61]) has provided unequivocal evidence that FLG null alleles are major risk factors for AD. These studies also indicate that FLG null alleles predispose particularly to an early-onset, severe and persistent course of AD with allergic sensitizations (for reviews, see [55,62]).…”

Section: Filaggrinmentioning

confidence: 99%

Clinical Impact of Current Genetics Findings

Weidinger¹,

Kabesch²

2011

Pediatric and Adolescent Medicine

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Atopic dermatitis (AD) is the one of the most common chronic skin diseases with prevalence rates of up to 20% in young infants and children and up to 5% in adults. The majority of patients show an onset of disease in early childhood and a spontaneous remission until adolescence, but there might be relapses, and the disease can also start in or persist into adulthood. AD presents a wide spectrum of clinical patterns and a variety of trigger factors with variable importance in the individual patient. It is frequently accompanied by elevated levels of total serum IgE antibodies and IgEmediated responses to common allergens, and often co-occurs with other allergic disorders such as food allergy, asthma and rhinitis, giving further rise to possible subpopulations of patients [1].Since there is no objective laboratory test or histologic finding specific for AD, diagnosis is usually made on the basis of a dermatologic examination of skin lesions considering their age-specific morphology and distribution. Further signs leading to the diagnosis of AD are the chronicity of symptoms and their association with pruritus [2]. For large epidemiologic studies, numerous diagnostic criteria have been developed in order to establish a definition for AD by using reliable discriminators resulting in increased validity and reproducibility of the diagnosis of AD. At present, the UK diagnostic criteria are most widely validated and appear to be applicable and repeatable across all ages and many ethnicities. However, as shown in a recent review, the ideal set of diagnostic criteria still has to be established [3].The pathophysiology of AD is complex and involves a disturbance of the epidermal barrier as well as abnormal immunological and inflammatory pathways leading to a Th2-dominated immune response with a Th17 component in acute AD lesions and the progressive conversion to a Th1-dominated response in chronic AD lesions [1].

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Toward a major risk factor for atopic eczema: Meta-analysis of filaggrin polymorphism data

Cited by 198 publications

References 33 publications

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

The era of genome-wide association studies: opportunities and challenges for asthma genetics

Clinical Impact of Current Genetics Findings

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