AI Article Synopsis

  • A study was conducted to explore the role of the PTPN22 R620W gene variant in myasthenia gravis (MG), involving 409 MG patients and 1557 controls from Sweden.
  • The W620 variant was found to be significantly more common in MG patients, with an odds ratio of 1.52, indicating a potential link to the disease.
  • Further tests on patient-derived cells showed that W620 carriers had increased production of anti-AChR antibodies and IL-2 when exposed to acetylcholine receptors, suggesting that this variant may impair immune function in the context of MG.

Article Abstract

In order to investigate the potential involvement of PTPN22 R620W in the pathogenesis of myasthenia gravis (MG), we performed a case-control study including 409 Swedish MG patients and 1557 normal controls. The W620 variant was significantly overrepresented in patients (odds ratio, 1.52; 95% confidence interval, 1.21-1.90; p=0.00027). Incubation of patient (n=100) derived PBMC cells with the autoantigen, the acetylcholine receptor, resulted in a significantly higher number of cells producing anti-AChR antibodies and IL-2 in W620 carriers, suggesting that PTPN22 W620 may be a loss-of-function variant in MG.

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Source
http://dx.doi.org/10.1016/j.jneuroim.2008.04.004DOI Listing

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