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Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis

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Official URL:https://doi.org/10.1371/journal.pbio.0050242
PubMed:View item in PubMed
Creators Name:Soederhaell, C. and Marenholz, I. and Kerscher, T. and Rueschendorf, F. and Esparza-Gordillo, J. and Worm, M. and Gruber, C. and Mayr, G. and Albrecht, M. and Rohde, K. and Schulz, H. and Wahn, U. and Huebner, N. and Lee, Y.A.
Journal Title:PLoS Biology
Journal Abbreviation:PLoS Biol
Volume:5
Number:9
Page Range:e242
Date:September 2007
Keywords:Atopic Dermatitis, Base Sequence, Chromosome Mapping, Collagen, Collagen Type VI, Family Health, Gene Expression Profiling, Genetic Predisposition to Disease, Genetic Variation, Inheritance Patterns, Molecular Sequence Data, Pair 3 Human Chromosomes, Tissue Distribution
Abstract:Atopic dermatitis (AD) is a common chronic inflammatory skin disorder and a major manifestation of allergic disease. AD typically presents in early childhood often preceding the onset of an allergic airway disease, such as asthma or hay fever. We previously mapped a susceptibility locus for AD on Chromosome 3q21. To identify the underlying disease gene, we used a dense map of microsatellite markers and single nucleotide polymorphisms, and we detected association with AD. In concordance with the linkage results, we found a maternal transmission pattern. Furthermore, we demonstrated that the same families contribute to linkage and association. We replicated the association and the maternal effect in a large independent family cohort. A common haplotype showed strong association with AD (p = 0.000059). The associated region contained a single gene, COL29A1, which encodes a novel epidermal collagen. COL29A1 shows a specific gene expression pattern with the highest transcript levels in skin, lung, and the gastrointestinal tract, which are the major sites of allergic disease manifestation. Lack of COL29A1 expression in the outer epidermis of AD patients points to a role of collagen XXIX in epidermal integrity and function, the breakdown of which is a clinical hallmark of AD.
ISSN:1544-9173
Publisher:Public Library of Science (U.S.A.)
Item Type:Article

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