The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Identification of ZNF313 / RNF114 as a novel psoriasis susceptibility gene
Open accessAbstract
Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage studies have clearly identified a primary disease susceptibility locus lying within the major histocompatibility complex (MHC), but have generated conflicting results for other genomic regions. To overcome this difficulty, we have carried out a genome-wide association scan, where we analyzed more than 408,000 SNPs in an initial sample of 318 cases and 288 controls. Outside of the MHC, we observed a single cluster of disease-associated markers, spanning 47 kb on chromosome 20q13. The analysis of two replication data sets confirmed this association, with SNP rs495337 yielding a combined P-value of 1.4 x 10(-8) in an overall sample of 2679 cases and 2215 controls. Rs495337 maps to the SPATA2 transcript and is in absolute linkage disequilibrium with five SNPs lying in the adjacent ZNF313 gene (also known as RNF114). Real-time PCR experiments showed that, unlike SPATA2, ZNF313 is abundantly expressed in skin, T-lymphocytes and dendritic cells. Furthermore, an analysis of the expression data available from the Genevar database indicated that rs495337 is associated with increased ZNF313 transcripts levels (P = 0.003), suggesting that the disease susceptibility allele may be a ZNF313 regulatory variant tagged by rs495337. Homology searches indicated that ZNF313 is a paralogue of TRAC-1, an ubiquitin ligase regulating T-cell activation. We performed cell-free assays and confirmed that like TRAC-1, ZNF313 binds ubiquitin via an ubiquitin-interaction motif (UIM). These findings collectively identify a novel psoriasis susceptibility gene, with a putative role in the regulation of immune responses.
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Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Self-citationSearching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
Wellcome Trust Case Control Consortium, & The Australo-Anglo-American Spondylitis Consortium (TASC) (2007) · Nature Genetics · doi:10.1038/ng.2007.17 · Cited by 1,374
Vinuesa, C. G., Cook, M. C., Angelucci, C., Athanasopoulos, V., Rui, L., Hill, K. M., Yu, D., Domaschenz, H., Whittle, B., Lambe, T., et al. (2005) · Nature · doi:10.1038/nature03555 · Cited by 862
Wolf, N., Quaranta, M., Prescott, N. J., Allen, M., Smith, R., Burden, A. D., Worthington, J., Griffiths, C. E. M., Mathew, C. G., Barker, J. N., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053595 · Cited by 171
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Cited by
Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2 (2010) · Nature Genetics · doi:10.1038/ng.694 · Cited by 1,047
Detecting shared pathogenesis from the shared genetics of immune-related diseases
Zhernakova, A., van Diemen, C. C., & Wijmenga, C. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2489 · Cited by 551
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
Ferreira, M. A., Matheson, M. C., Duffy, D. L., Marks, G. B., Hui, J., Le Souëf, P., Danoy, P., Baltic, S., Nyholt, D. R., Jenkins, M., et al. (2011) · The Lancet · doi:10.1016/s0140-6736(11)60874-x · Cited by 381
Association analyses identify six new psoriasis susceptibility loci in the Chinese population
Sun, L.-D., Cheng, H., Wang, Z.-X., Zhang, A.-P., Wang, P.-G., Xu, J.-H., Zhu, Q.-X., Zhou, H.-S., Ellinghaus, E., Zhang, F.-R., et al. (2010) · Nature Genetics · doi:10.1038/ng.690 · Cited by 317
Baurecht, H., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.12.004 · Cited by 193
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Metadata
- Authors
- Capon, F., Bijlmakers, M.-J., Wolf, N., Quaranta, M., Huffmeier, U., Allen, M., Timms, K., Abkevich, V., Gutin, A., Smith, R., Warren, R. B., Young, H. S., Worthington, J., Burden, A. D., Griffiths, C. E. M., Hayday, A., Nestle, F. O., Reis, A., Lanchbury, J., Barker, J. N., & Trembath, R. C.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-03-25
- Volume
- 17
- Issue
- 13
- Pages
- 1938-1945
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2144294851
- Cited by
- 198
- References
- 5
- FWCI
- 6.54
- Type
- journal article
- Language
- en
- Open access
- green
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- Capon, F., Bijlmakers, M.-J., Wolf, N., Quaranta, M., Huffmeier, U., Allen, M., Timms, K., Abkevich, V., Gutin, A., Smith, R., Warren, R. B., Young, H. S., Worthington, J., Burden, A. D., Griffiths, C. E. M., Hayday, A., Nestle, F. O., Reis, A., Lanchbury, J., . . . Trembath, R. C. (2008). Identification of ZNF313 / RNF114 as a novel psoriasis susceptibility gene. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddn091
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