Δημοσίευση

Investigation of juvenile idiopathic arthritis susceptibility loci: results from a Greek population.

ΤίτλοςInvestigation of juvenile idiopathic arthritis susceptibility loci: results from a Greek population.
Publication TypeJournal Article
Year of Publication2013
AuthorsDimopoulou, D. G., Zervou M. I., Trachana M., Myrthianou E., Pratsidou-Gertsi P., Kardassis D., Garyfallos A., & Goulielmos G. N.
JournalHum Immunol
Volume74
Issue9
Pagination1194-8
Date Published2013 Sep
ISSN1879-1166
Λέξεις κλειδιάAdolescent, Adult, Alleles, Antigens, CD3, Arthritis, Juvenile, Child, Ethnic Groups, Female, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Greece, Humans, Male, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Protein Tyrosine Phosphatase, Non-Receptor Type 22, STAT4 Transcription Factor, TNF Receptor-Associated Factor 1, Young Adult
Abstract

The strategy of studying the putative role of RA susceptibility genetic factors in the development of juvenile idiopathic arthritis (JIA), an autoimmune disease characterized by persistent chronic arthritis, has been proven highly successful so far. Moreover, accumulated evidence indicates that an ethnic heterogeneity of genetic factors exists for rheumatic disorders. We investigated whether five single nucleotide polymorphisms (SNPs), previously found to be associated with JIA in various populations so far, are also associated with JIA in Greece. The sample set consisted of 128 Caucasian JIA patients and 221 healthy controls from Northern Greece. Five Single Nucleotide Polymorphisms (SNPs) markers, namely TRAF1/C5 rs10818488, PTPN22 rs2476601, STAT4 rs7574865, CD247 rs1773560 and PTPN2 rs7234029 SNPs were genotyped in a case-control study with Restriction Fragment Length Polymorphisms (RFLPs) or Taqman primer-probe sets. This study demonstrated for the first time in a Greek population that the PTPN22, TRAF1/C5 and CD247 polymorphisms examined are associated with an increased susceptibility to JIA, thus suggesting that the respective risk alleles may confer susceptibility to clinically distinct disorders. However, our results did not demonstrate any association of STAT4 and PTPN2 SNPs with the disease in our population, thus highlighting the importance of comparative studies in different ethnic populations.

DOI10.1016/j.humimm.2013.06.018
Alternate JournalHum. Immunol.
PubMed ID23777930

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