The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Replication of an Association Between the Lymphoid Tyrosine Phosphatase Locus (LYP/PTPN22) With Type 1 Diabetes, and Evidence for Its Role as a General Autoimmunity Locus
Abstract
In the genetic analysis of common, multifactorial diseases, such as type 1 diabetes, true positive irrefutable linkage and association results have been rare to date. Recently, it has been reported that a single nucleotide polymorphism (SNP), 1858C>T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which has been shown to be a negative regulator of T-cell activation, is associated with an increased risk of type 1 diabetes. Here, we have replicated these findings in 1,388 type 1 diabetic families and in a collection of 1,599 case and 1,718 control subjects, confirming the association of the PTPN22 locus with type 1 diabetes (family-based relative risk (RR) 1.67 [95% CI 1.46–1.91], and case-control odds ratio (OR) 1.78 [95% CI 1.54–2.06]; overall P = 6.02 × 10−27). We also report evidence for an association of Trp620 with another autoimmune disorder, Graves’ disease, in 1,734 case and control subjects (P = 6.24 × 10−4; OR 1.43 [95% CI 1.17–1.76]). Taken together, these results indicate a more general association of the PTPN22 locus with autoimmune disease.
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Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
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A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
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Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456
Self-citationType 1 Diabetes: Etiology, Immunology, and Therapeutic Strategies
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Metadata
- Authors
- Smyth, D., Cooper, J. D., Collins, J. E., Heward, J. M., Franklyn, J. A., Howson, J. M. M., Vella, A., Nutland, S., Rance, H. E., Maier, L., Barratt, B. J., Guja, C., Ionescu-Tı̂rgovişte, C., Savage, D. A., Dunger, D. B., Widmer, B., Strachan, D. P., Ring, S. M., Walker, N., Clayton, D. G., Twells, R. C. J., Gough, S. C. L., & Todd, J. A.
- Venue
- Diabetes
- Publisher
- American Diabetes Association
- Published
- 2004-11-01
- Volume
- 53
- Issue
- 11
- Pages
- 3020-3023
- ISSN
- 0012-1797 (ISSN-L)
- 1939-327X
- OpenAlex
- W2142155452
- Cited by
- 503
- References
- 26
- FWCI
- 27.44
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Replication of an Association Between the Lymphoid Tyrosine Phosphatase Locus (LYP/PTPN22) With Type 1 Diabetes, and Evidence for Its Role as a General Autoimmunity Locus. https://app.cochat.ai/papers/10.2337/diabetes.53.11.3020
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- Smyth, D., Cooper, J. D., Collins, J. E., Heward, J. M., Franklyn, J. A., Howson, J. M. M., Vella, A., Nutland, S., Rance, H. E., Maier, L., Barratt, B. J., Guja, C., Ionescu-Tı̂rgovişte, C., Savage, D. A., Dunger, D. B., Widmer, B., Strachan, D. P., Ring, S. M., Walker, N., . . . Todd, J. A. (2004). Replication of an Association Between the Lymphoid Tyrosine Phosphatase Locus (LYP/PTPN22) With Type 1 Diabetes, and Evidence for Its Role as a General Autoimmunity Locus. Diabetes. https://doi.org/10.2337/diabetes.53.11.3020
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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.
