Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes.

By L. Criswell, Kirsten A Pfeiffer, R. F. Lum, Bonnie Gonzales, Jill M Novitzke, M. Kern, K. Moser, A. Begovich, V. Carlton, Wentian Li and 4 more. American Journal of Human Genetics, 2005

632 citations recorded by the source corpus.

Subfields: Gastroenterology, Genetics, Immunology

View Paper: https://www.semanticscholar.org/paper/b07d394950e7b5fde4636acc54e8846f0b40ac0b

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Citations in the corpus

• Autoantibodies, autoimmune risk alleles and clinical associations in rheumatoid arthritis cases and non-RA controls in the electronic medical records (2013, neutral): “For example, the PTPN22 missense allele (R620W), a shared genetic risk factor for RA, SLE, and AITD, has been shown to cause defects in the counterselection of autoreactive B cells (31,38,39), which leads to production of autoantibodies.”
• Recent Insights in the Epidemiology of Autoimmune Diseases: Improved Prevalence Estimates and Understanding of Clustering of Diseases (2009, background): “For instance, the PTPN22 risk allele has been strongly associated with type 1 diabetes, rheumatoid arthritis and thyroiditis, but not multiple sclerosis [167].”