PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data

Carlo Provenzano, Mariapaola Marino, Lucia Leone, Marcella Zollino, Amelia Evoli, Flavia Scuderi, Francesca La Carpia, Antonella Sferrazza, Emanuela Bartoccioni, R Ricciardi, Mt Maiuri, M Maestri, M Lucchi, A Mussi

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

Abstract

Polymorphisms in PTPN22 are associated with many autoimmune diseases; while rs2476601 is supposed to play a major role, other experimental data suggest that rs2488457 may be even more important. Results in myasthenia gravis are controversial. In 356 Italian myasthenic patients and 439 controls genotyped for both polymorphisms, we found that rs2476601 was not associated with myasthenia, presence of autoantibodies, thymus pathology, sex or onset age unlike previous studies on other European populations (confirmed by the present meta-analysis). On the other hand, while rs2488457 was not associated with myasthenia or thymus pathology, we found a correlation of rs2488457 with low autoantibody titers and a trend of association with a less severe disease. Both polymorphisms were in tight linkage disequilibrium in controls, not in patients. Our results suggest that SNPs in this gene different from rs2476601, and/or epigenetic interactions, could play a greater role.
Original languageEnglish
Pages (from-to)131-138
Number of pages8
JournalNeuromuscular Disorders
Volume22
DOIs
Publication statusPublished - 2012

Keywords

  • Myasthenia gravis
  • snp

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