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. © 2011 Elsevier B.V.

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

LUCCHI, MARCO;MUSSI, ALFREDO;
2012

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. © 2011 Elsevier B.V.
Provenzano, Carlo; Ricciardi, Roberta; Scuderi, Flavia; Maiuri, Maria Teresa; Maestri, Michelangelo; La Carpia, Francesca; Sferrazza, Antonella; Marino, Mariapaola; Leone, Lucia; Lucchi, Marco; Mussi, Alfredo; Zollino, Marcella; Evoli, Amelia; Bartoccioni, Emanuela
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/871071
Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 20
  • ???jsp.display-item.citation.isi??? ND
social impact