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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease
Open accessAbstract
Behçet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Behçet's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Behçet's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 × 10−8). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 × 10−18, odds ratio = 1.45, 95% CI 1.34–1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 × 10−9, OR = 1.28, 95% CI 1.18–1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production.
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Interleukin-10 and the Interleukin-10 Receptor
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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
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Metadata
- Authors
- Remmers, E. F., Cosan, F., Kirino, Y., Ombrello, M. J., Abaci, N., Satorius, C., Le, J. M., Yang, B., Korman, B. D., Cakiris, A., Aglar, O., Emrence, Z., Azakli, H., Ustek, D., Tugal-Tutkun, I., Akman-Demir, G., Chen, W., Amos, C. I., Dizon, M. B., Kose, A. A., Azizlerli, G., Erer, B., Brand, O. J., Kaklamani, V. G., Kaklamanis, P., Ben-Chetrit, E., Stanford, M., Fortune, F., Ghabra, M., Ollier, W. E. R., Cho, Y.-H., Bang, D., O'Shea, J., Wallace, G. R., Gadina, M., Kastner, D. L., & Gül, A.
- Venue
- Nature Genetics
- Published
- 2010-07-11
- Volume
- 42
- Issue
- 8
- Pages
- 698-702
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2065059951
- Cited by
- 681
- References
- 3
- FWCI
- 52.09
- Type
- journal article
- Language
- en
- Open access
- green
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- Remmers, E. F., Cosan, F., Kirino, Y., Ombrello, M. J., Abaci, N., Satorius, C., Le, J. M., Yang, B., Korman, B. D., Cakiris, A., Aglar, O., Emrence, Z., Azakli, H., Ustek, D., Tugal-Tutkun, I., Akman-Demir, G., Chen, W., Amos, C. I., Dizon, M. B., . . . Gül, A. (2010). Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nature Genetics. https://doi.org/10.1038/ng.625
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
