title: Influence of TRAF1/C5 and STAT4 genes polymorphisms on susceptibility and severity of rheumatoid arthritis in Egyptian population.
abstract: Rheumatoid arthritis (RA) is the most common cause of adult inflammatory arthritis. Recent genome-wide association scans have disclosed several single-nucleotide polymorphisms associated with RA susceptibility. The aim of this study was to determine whether the polymorphisms of TRAF1/C5 (tumor necrosis factor (TNF)-receptor associated factor 1)/(complement component 5) and STAT4 (signal transducers and activators of transcription 4) confer susceptibility, activity and severity to RA in Egyptian populations. One hundred and seventy-two RA patients and 160 controls were enrolled in the study. Polymorphisms of TRAF1/C5 and STAT4 genes were determined using restriction fragment length polymorphism-polymerase chain reaction. The TRAF1/C5 A and STAT4 T alleles were significantly associated with RA in Egyptian population. TRAF1/C5 A allele and STAT4 TT genotype were significantly associated with RA severity. In conclusion the mutant alleles or genotypes of both examined polymorphisms are associated with the development of RA in Egyptian population.
authors.affiliation: Biochemistry Department, Zagazig University, Zagazig, Egypt.
authors.forename: Rasha H
authors.initials: RH
authors.lastname: Mohamed
authors.forename: Heba F
authors.initials: HF
authors.lastname: Pasha
authors.forename: Eman E
authors.initials: EE
authors.lastname: El-Shahawy
mesh_terms: D000328:Adult; D000368:Aged; D001172:Arthritis, Rheumatoid / Q000235:genetics / Q000276:immunology*; D016009:Chi-Square Distribution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004534:Egypt; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012217:Rheumatoid Factor / Q000097:blood; D050797:STAT4 Transcription Factor / Q000235:genetics / Q000276:immunology*; D047990:TNF Receptor-Associated Factor 1 / Q000235:genetics / Q000276:immunology*
chemical_list: D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; D047990:TNF Receptor-Associated Factor 1; D004247:DNA; D012217:Rheumatoid Factor