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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
Open accessAbstract
Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of immunological tolerance in mice. Heterozygous loss-of-function germline rare variants and a homozygous defective polymorphic variant of SIAE were identified in 24/923 subjects of European origin with relatively common autoimmune disorders and in 2/648 controls of European origin. All heterozygous loss-of-function SIAE mutations tested were capable of functioning in a dominant negative manner. A homozygous secretion-defective polymorphic variant of SIAE was catalytically active, lacked the ability to function in a dominant negative manner, and was seen in eight autoimmune subjects but in no control subjects. The odds ratio for inheriting defective SIAE alleles was 8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis, and 7.9 in subjects with type I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders.
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Unravelling the pathogenesis of inflammatory bowel disease
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Hauser, S. L., Waubant, E., Arnold, D. L., Vollmer, T., Antel, J., Fox, R. J., Bar-Or, A., Panzara, M., Sarkar, N., Agarwal, S., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706383 · Cited by 2,439
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108
Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
Nejentsev, S., Walker, N., Riches, D., Egholm, M., & Todd, J. A. (2009) · Science · doi:10.1126/science.1167728 · Cited by 958
Lee-Kirsch, M. A., Gong, M., Chowdhury, D., Senenko, L., Engel, K., Lee, Y.-A., de Silva, U., Bailey, S. L., Witte, T., Vyse, T. J., et al. (2007) · Nature Genetics · doi:10.1038/ng2091 · Cited by 730
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Long, J. Z., & Cravatt, B. F. (2011) · Chemical Reviews · doi:10.1021/cr200075y · Cited by 425
Sawcer, S., Franklin, R. J. M., & Ban, M. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70041-9 · Cited by 401
Metadata
- Authors
- Surolia, I., Pirnie, S. P., Chellappa, V., Taylor, K. N., Cariappa, A., Moya, J., Liu, H., Bell, D. W., Driscoll, D. R., Diederichs, S., Haider, K., Netravali, I., Le, S., Elia, R., Dow, E., Lee, A., Freudenberg, J., De Jager, P. L., Chretien, Y., Varki, A., MacDonald, M. E., Gillis, T., Behrens, T. W., Bloch, D., Collier, D., Korzenik, J., Podolsky, D. K., Hafler, D., Murali, M., Sands, B., Stone, J. H., Gregersen, P. K., & Pillai, S.
- Venue
- Nature
- Published
- 2010-06-16
- Volume
- 466
- Issue
- 7303
- Pages
- 243-247
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2010775550
- Cited by
- 161
- References
- 5
- FWCI
- 8.62
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Surolia, I., Pirnie, S. P., Chellappa, V., Taylor, K. N., Cariappa, A., Moya, J., Liu, H., Bell, D. W., Driscoll, D. R., Diederichs, S., Haider, K., Netravali, I., Le, S., Elia, R., Dow, E., Lee, A., Freudenberg, J., De Jager, P. L., Chretien, Y., . . . Pillai, S. (2010). Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature. https://doi.org/10.1038/nature09115
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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.
