title: Investigation of juvenile idiopathic arthritis susceptibility loci: results from a Greek population.
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.
authors.affiliation: Rheumatology Unit, 4th Department of Internal Medicine, Aristotle University of Thessaloniki, Hippocration Hospital, Thessaloniki, Greece.
authors.forename: D G
authors.initials: DG
authors.lastname: Dimopoulou
authors.forename: M I
authors.initials: MI
authors.lastname: Zervou
authors.forename: M
authors.initials: M
authors.lastname: Trachana
authors.forename: E
authors.initials: E
authors.lastname: Myrthianou
authors.forename: P
authors.initials: P
authors.lastname: Pratsidou-Gertsi
authors.forename: D
authors.initials: D
authors.lastname: Kardassis
authors.forename: A
authors.initials: A
authors.lastname: Garyfallos
authors.forename: G N
authors.initials: GN
authors.lastname: Goulielmos
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001171:Arthritis, Juvenile / Q000235:genetics*; D017252:CD3 Complex / Q000235:genetics; D002648:Child; D005006:Ethnicity / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006115:Greece; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2 / Q000235:genetics; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D050797:STAT4 Transcription Factor / Q000235:genetics; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics; D055815:Young Adult
chemical_list: D017252:CD3 Complex; C121704:CD3 antigen, zeta chain; D050797:STAT4 Transcription Factor; D047990:TNF Receptor-Associated Factor 1; C516649:PTPN2 protein, human; C516765:PTPN22 protein, human; D054578:Protein Tyrosine Phosphatase, Non-Receptor Type 2; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22