A common variant on chromosome 11q13 is associated with atopic dermatitis
Abstract
We conducted a genome-wide association study in 939 individuals with atopic dermatitis and 975 controls as well as 270 complete nuclear families with two affected siblings. SNPs consistently associated with atopic dermatitis in both discovery sets were then investigated in two additional independent replication sets totalling 2,637 cases and 3,957 controls. Highly significant association was found with allele A of rs7927894 on chromosome 11q13.5, located 38 kb downstream of C11orf30 (P(combined) = 7.6 x 10(-10)). Approximately 13% of individuals of European origin are homozygous for rs7927894[A], and their risk of developing atopic dermatitis is 1.47 times that of noncarriers.
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MAL and other myelination genes have previously been reported to show altered expression in patients with psychiatric disorders.
“MAL, along with other myelination genes, has previously been reported to show altered expression in patients with psychiatric disorders17.”
From Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism (2014) · cites this paper as [17]
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- Authors
- Esparza-Gordillo, J., Weidinger, S., Fölster-Holst, R., Bauerfeind, A., Ruschendorf, F., Patone, G., Rohde, K., Marenholz, I., Schulz, F., Kerscher, T., Hubner, N., Wahn, U., Schreiber, S., Franke, A., Vogler, R., Heath, S., Baurecht, H., Novak, N., Rodriguez, E., Illig, T., Lee-Kirsch, M.-A., Ciechanowicz, A., Kurek, M., Piskackova, T., Macek, M., Lee, Y.-A., & Ruether, A.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- Helmholtz Munich (DE)
- Max Delbrück Center (DE)
- Christian-Albrechts-Universität zu Kiel (DE)
- University of Bonn (DE)
- Pomeranian Medical University (PL)
- Charles University (CZ)
- Corresponding author
- Lee, Young-Ae
- ORCID
- Venue
- Nature Genetics
- Published
- 2009-04-06
- Volume
- 41
- Issue
- 5
- Pages
- 596-601
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2157087957
- Cited by
- 317
- References
- 49
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 7 · 2023: 9 · 2022: 15 · 2021: 11 · 2020: 25 · 2019: 16 · 2018: 13 · 2017: 19 · 2016: 17 · 2015: 37 · 2014: 23 · 2013: 29 · 2012: 27
- FWCI
- 37.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (submittedVersion)
- mediaTUM (Technical University of Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Topics
- Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Keywords
- atopic dermatitis, chromosome 11q13, genetic susceptibility, single nucleotide polymorphisms, genome-wide association study, Crohn's disease, homozygosity
- MeSH terms
- Adolescent, Chromosomes, Human, Pair 11, Dermatitis, Atopic, Female, Humans, Male, Genetic Variation, Linkage Disequilibrium, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Young Adult
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