The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
Open accessAbstract
Psoriasis is a common inflammatory skin disease with a prevalence of 2–3% in individuals of European ancestry. In a genome-wide search for copy number variants (CNV) using a sample pooling approach, we have identified a deletion comprising LCE3B and LCE3C, members of the late cornified envelope (LCE) gene cluster. The absence of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated (P = 1.38E–08) with risk of psoriasis in 2,831 samples from Spain, The Netherlands, Italy and the United States, and in a family-based study (P = 5.4E–04). LCE3C_LCE3B-del is tagged by rs4112788 (r 2 = 0.93), which is also strongly associated with psoriasis (P < 6.6E–09). LCE3C_LCE3B-del shows epistatic effects with the HLA-Cw6 allele on the development of psoriasis in Dutch samples and multiplicative effects in the other samples. LCE expression can be induced in normal epidermis by skin barrier disruption and is strongly expressed in psoriatic lesions, suggesting that compromised skin barrier function has a role in psoriasis susceptibility.
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Cites
Mapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119
Self-citationCordell, H. J., Barratt, B. J., & Clayton, D. G. (2004) · Genetic Epidemiology · doi:10.1002/gepi.10307 · Cited by 223
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Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Self-citationOrigins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
BIRAC Consortium, Stahl, E. A., YEAR Consortium, Raychaudhuri, S., Remmers, E. F., Xie, G., Eyre, S., Thomson, B. P., Li, Y., Kurreeman, F. A. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.582 · Cited by 1,253
Filaggrin Mutations Associated with Skin and Allergic Diseases
Irvine, A. D., McLean, W. H. I., & Leung, D. Y. M. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1011040 · Cited by 1,217
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Collaborative Association Study of Psoriasis (CASP), Tsoi, L. C., Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., et al. (2012) · Nature Genetics · doi:10.1038/ng.2467 · Cited by 1,024
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Metadata
- Authors
- de Cid, R., Riveira-Munoz, E., Zeeuwen, P. L. J. M., Robarge, J., Liao, W., Dannhauser, E. N., Giardina, E., Stuart, P. E., Nair, R., Helms, C., Escaramís, G., Ballana, E., Martín-Ezquerra, G., Heijer, M. D., Kamsteeg, M., Joosten, I., Eichler, E. E., Lázaro, C., Pujol, R. M., Armengol, L., Abecasis, G., Elder, J. T., Novelli, G., Armour, J. A. L., Kwok, P.-Y., Bowcock, A., Schalkwijk, J., & Estivill, X.
- Venue
- Nature Genetics
- Published
- 2009-01-25
- Volume
- 41
- Issue
- 2
- Pages
- 211-215
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2124896761
- Cited by
- 534
- References
- 2
- FWCI
- 25.58
- Type
- journal article
- Language
- en
- Open access
- green
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