title: PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data.
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.
authors.affiliation: Institute of General Pathology, Catholic University, Largo Francesco Vito 1, 00168 Rome, Italy. liproven@rm.unicatt.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Provenzano
authors.forename: Roberta
authors.initials: R
authors.lastname: Ricciardi
authors.forename: Flavia
authors.initials: F
authors.lastname: Scuderi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Maiuri
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Maestri
authors.forename: Francesca
authors.initials: F
authors.lastname: La Carpia
authors.forename: Antonella
authors.initials: A
authors.lastname: Sferrazza
authors.forename: Mariapaola
authors.initials: M
authors.lastname: Marino
authors.forename: Lucia
authors.initials: L
authors.lastname: Leone
authors.forename: Marco
authors.initials: M
authors.lastname: Lucchi
authors.forename: Alfredo
authors.initials: A
authors.lastname: Mussi
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Amelia
authors.initials: A
authors.lastname: Evoli
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bartoccioni
mesh_terms: D000328:Adult; D001323:Autoantibodies / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006801:Humans; D007558:Italy; D008297:Male; D009157:Myasthenia Gravis / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*
chemical_list: D001323:Autoantibodies; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22