title: Association of a TRAF1 and a STAT4 gene polymorphism with increased risk for rheumatoid arthritis in a genetically homogeneous population.
abstract: Rheumatoid arthritis (RA) is a multifactorial disease that is increasing in incidence worldwide. It is associated with a complex mode of inheritance, with many genes being involved in the development and progression of the disease. Genome-wide association studies in different populations have recently revealed a significant association between a TRAF1/C5 and a STAT4 polymorphism and the development of RA. In the present study we performed a case-control study in the population of the island of Crete, Greece, aiming to replicate the former findings in a genetically homogeneous cohort of patients. We found that mutated allele A or genotypes A/A and G/A of the TRAF1/C5 rs10818488 SNP were more common in individuals with RA than in control individuals (odds ratio [OR]=1.7, 95% confidence interval [CI]=1.35-2.15, and OR=2.22, 95% CI=1.61-3.05, respectively). Similarly, mutated allele T or genotypes T/T and G/T of the STAT4 rs7574865 SNP were also associated with susceptibility to RA (OR=1.9, 95% CI=1.46-2.50, and OR=2.37, 95% CI 1.73-2.25, respectively). Thus, we conclude that mutant alleles or genotypes of both polymorphisms examined are associated with the development of RA in our population.
authors.affiliation: Department of Medicine, University of Crete, and Department of Rheumatology, Clinical Immunology and Allergy, University Hospital of Heraklion, Heraklion, Greece.
authors.forename: Maria I
authors.initials: MI
authors.lastname: Zervou
authors.forename: Prodromos
authors.initials: P
authors.lastname: Sidiropoulos
authors.forename: Eleni
authors.initials: E
authors.lastname: Petraki
authors.forename: Vassilios
authors.initials: V
authors.lastname: Vazgiourakis
authors.forename: Eleni
authors.initials: E
authors.lastname: Krasoudaki
authors.forename: Amalia
authors.initials: A
authors.lastname: Raptopoulou
authors.forename: Herakles
authors.initials: H
authors.lastname: Kritikos
authors.forename: Eva
authors.initials: E
authors.lastname: Choustoulaki
authors.forename: Dimitrios T
authors.initials: DT
authors.lastname: Boumpas
authors.forename: George N
authors.initials: GN
authors.lastname: Goulielmos
mesh_terms: D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics*
chemical_list: D050797:STAT4 Transcription Factor; D047990:TNF Receptor-Associated Factor 1