Illés Zsolt, Dr. Bernhard Greve és Prof. Arthur Melms (Tübingen)


Greve B, Simonenko R, Illes Z, Peterfalvi A, Mycko MP, Rozsa C, Selmaj KW, Bauer P, Berger K, Weissert R..

Multiple sclerosis and the putative autoimmunity SNP CT60: no association in patients from Germany, Hungary and Poland.

Mult Scler, 2008, 14:153-158.

Polymorphisms in the CTLA4 gene region have been associated with susceptibility to autoimmune diseases. The recently described single nucleotide polymorphism CT60, located in the 3' untranslated region of CTLA4 is associated with Graves' disease, thyroiditis, autoimmune diabetes and other autoimmune diseases. A case-control association study was conducted in German, Hungarian and Polish multiple sclerosis (MS) patients and regional control individuals for the CTLA4 CT60 and +49A/G polymorphisms. No significant association of these polymorphisms or respective haplotypes with MS was found. No association of CT60 genotypes with T cell expression of ICOS and CTLA-4 after in vitro stimulation was detected.


Greve B, Hoffmann P, Illes Z, Rozsa C, Berger K, Weissert R, Melms A.

The autoimmunity polymorphism PTPN22 1858C/T is associated with anti-Titin antibody-positivemyasthenia gravis.

Hum Immunol, 2009, 70:540-542.

Genetic variation in the intracellular tyrosine phosphatase PTPN22 has been recently associated with susceptibility to various autoimmune diseases. Myasthenia gravis (MG) is a complex genetic disease with a distinct clinical and pathological heterogeneity. We conducted a case-control association study for the PTPN22 1858C/T polymorphism in Hungarian and German MG patients (n = 282) and regional controls (n = 379). We detected an association of the PTPN22 1858T allele with MG in the subgroup of nonthymoma patients with anti-titin antibodies present (n = 50; T allele frequency 21% vs 11% in controls; p = 0.005, odds ratio 2.1, 95% confidence interval 1.23-3.58). This overrepresentation was reported independently in both Hungarian and German MG patients compared with regional controls. We conclude that the common autoimmune polymorphism PTPN22 1858C/T may account for disease susceptibility in a subset of nonthymoma MG patients with anti-titin antibodies present.