rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype-Reference-Cited by-同舟云学术

rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype

Published:2009-12 Issue:S1 Volume:10 Page:S21-S26
ISSN:1466-4879
Container-title:Genes & Immunity
language:en
Short-container-title:Genes Immun

Author:

Steck A K, ,Baschal E E,Jasinski J M,Boehm B O,Bottini N,Concannon P,Julier C,Morahan G,Noble J A,Polychronakos C,She J X,Eisenbarth G S

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Immunology

Link

http://www.nature.com/articles/gene200987.pdf

Reference26 articles.

1. Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337–338.

2. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447: 661–678.

3. Cloutier JF, Veillette A . Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 1999; 189: 111–121.

4. Vang T, Congia M, Macis MD, Musumeci L, Orru V, Zavattari P et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37: 1317–1319.

5. Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM et al. 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 2004; 53: 3020–3023.

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