A common variant on chromosome 11q13 is associated with atopic dermatitis

Esparza-Gordillo, Jorge; Weidinger, Stephan; Fölster‐Holst, Regina; Bauerfeind, Anja; Rüschendorf, Franz; Patone, Giannino; Rohde, Klaus; Marenholz, Ingo; Schulz, Florian; Kerscher, Tamara; Hübner, Norbert; Wahn, Ulrich; Schreiber, Stefan; Franke, André; Vogler, Rainer; Heath, Simon; Baurecht, Hansjörg; Novak, Natalija; Rodríguez, Elke; Illig, Thomas; Lee‐Kirsch, Min Ae; Ciechanowicz, Andrzej; Kurek, Michael; Piskáčková, T.; Maçek, Milan; Lee, Young‐Ae; Ruether, Andreas

doi:10.1038/ng.347

Cited by 288 publications

(284 citation statements)

References 27 publications

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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: 94%

“…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. In seven white and Hispanic replication populations, two PDE4D SNPs had significant results with P-values less than 0.05, and five had results in the same direction as the original population but had P-values greater than 0.05.…”

Section: Findings In Several Gwa Studies On Asthmamentioning

confidence: 94%

“…These GWA studies have identified new disease-susceptibility genes and revealed new pathways that contribute to disease development for a range of complex traits. 10,11, 21,22 A typical GWA study has the following key features: high density SNP chips (Affymetrix GeneChips (Affymetrix, Santa Clara, CA, USA) and Illumina BeadChips (Illumina, Cleveland, OH, USA)); a casecontrol design; a large sample size and stringent significance levels of association with independent replications. 23,24 The initial GWA studies have consistently shown: 9-11, 23,25 (1) that most associations do not involve previously identified candidate genes.…”

Section: Gwa Studiesmentioning

confidence: 99%

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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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Section: Findings In Several Gwa Studies On Asthmamentioning

confidence: 94%

Section: Findings In Several Gwa Studies On Asthmamentioning

confidence: 94%

Section: Gwa Studiesmentioning

confidence: 99%

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

2009

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“…Most other candidate genes for AD show inconsistent replication patterns. Data on the recently identified AD susceptibility gene from chromosome 11 identified by a GWA study [35] has not yet been replicated sufficiently to judge its relevance and robustness.…”

Section: Clinical Impact Of Genetic Findingsmentioning

confidence: 99%

“…This GWA study incorporated more than 307,000 SNP markers and 10,000 individuals from both family and case-referent panels mainly collected from Germany [35]. A robust site of association was identified on chromosome 11q13.5, with the strongest association observed for SNP rs7927894, which is located in an intergenic region between two annotated genes, chromosome 11 open reading frame 30 (C11orf30) and leucine rich repeat containing 32 (LRRC32) [UCSC Genome Browser, Human Genome March 2006 assembly, 259 http://genome.ucsc.edu].…”

Section: Hints From Genomewide Studiesmentioning

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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Skin care interventions in infants for preventing eczema and food allergy

Kelleher

Phillips

Brown

et al. 2022

Cochrane Database of Systematic Reviews

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Background Eczema and food allergy are common health conditions that usually begin in early childhood and often occur in the same people. They can be associated with an impaired skin barrier in early infancy. It is unclear whether trying to prevent or reverse an impaired skin barrier soon after birth is effective for preventing eczema or food allergy. Objectives Primary objective To assess the effects of skin care interventions such as emollients for primary prevention of eczema and food allergy in infants. Secondary objective To identify features of study populations such as age, hereditary risk, and adherence to interventions that are associated with the greatest treatment benefit or harm for both eczema and food allergy. Search methods We performed an updated search of the Cochrane Skin Specialised Register, CENTRAL, MEDLINE, and Embase in September 2021. We searched two trials registers in July 2021. We checked the reference lists of included studies and relevant systematic reviews, and scanned conference proceedings to identify further references to relevant randomised controlled trials (RCTs). Selection criteria We included RCTs of skin care interventions that could potentially enhance skin barrier function, reduce dryness, or reduce subclinical inflammation in healthy term (> 37 weeks) infants (≤ 12 months) without pre‐existing eczema, food allergy, or other skin condition. Eligible comparisons were standard care in the locality or no treatment. Types of skin care interventions could include moisturisers/emollients; bathing products; advice regarding reducing soap exposure and bathing frequency; and use of water softeners. No minimum follow‐up was required. Data collection and analysis This is a prospective individual participant data (IPD) meta‐analysis. We used standard Cochrane methodological procedures, and primary analyses used the IPD dataset. Primary outcomes were cumulative incidence of eczema and cumulative incidence of immunoglobulin (Ig)E‐mediated food allergy by one to three years, both measured at the closest available time point to two years. Secondary outcomes included adverse events during the intervention period; eczema severity (clinician‐assessed); parent report of eczema severity; time to onset of eczema; parent report of immediate food allergy; and allergic sensitisation to food or inhalant allergen. Main results We identified 33 RCTs comprising 25,827 participants. Of these, 17 studies randomising 5823 participants reported information on one or more outcomes specified in this review. We included 11 studies, randomising 5217 participants, in one or more meta‐analyses (range 2 to 9 studies per individual meta‐analysis), with 10 of these studies providing IPD; the remaining 6 studies were included in the narrative results only. Most studies were con...

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A common variant on chromosome 11q13 is associated with atopic dermatitis

Cited by 288 publications

References 27 publications

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

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

Clinical Impact of Current Genetics Findings

Skin care interventions in infants for preventing eczema and food allergy

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