title: Protein tyrosine phosphatase non-receptor type 22 (PTPN22) +1858 C>T gene polymorphism in Egyptian cases with rheumatoid arthritis.
abstract: BACKGROUND
  Rheumatoid arthritis (RA) is a common autoimmune disease with a complex genetic background. The gene encoding protein tyrosine phosphatase non-receptor type 22 (PTPN22) has been reported to be associated with RA in several populations.
  
  
  OBJECTIVE
  This work aimed at assessing the association of PTPN22 +1858 C>T gene polymorphism with the susceptibility, activity and severity of RA in Egyptian subjects.
  
  
  METHODS
  This study included 112 unrelated RA patients who were compared to 122 healthy unrelated individuals taken from the same locality. For all subjects, DNA was genotyped for PTPN22 +1858 C>T (rs2476601) polymorphism using the PCR-RFLP technique. Antibodies to cyclic citrullinated peptides (anti-CCP) were measured by enzyme-linked immunosorbent assay (ELISA).
  
  
  RESULTS
  Cases showed significantly higher PTPN22 +1858 T allele carriage rate (CT+TT genotypes) compared to controls (34.8% vs. 8.2%, OR=5.98, 95% CI=2.81-12.73, p<0.001). Also the frequency of the PTPN22 +1858 T allele was significantly higher among cases compared to controls (18.7% vs. 4.5%, OR=4.89; 95% CI=2.45-9.76, p<0.001). Cases positive to the PTPN22 T allele (CT+TT genotypes) showed no significant difference from those with the CC genotype regarding clinical and immune parameters. Nonetheless, they showed a more functional disability presented in their significantly higher health assessment questionnaire (HAQ) score (p=0.04).
  
  
  CONCLUSIONS
  This study is a confirmatory evidence of the association of the PTPN22 +1858 T allele with susceptibility and functional disability of RA in Egyptian subjects.
authors.affiliation: Department of Biochemistry, Faculty of Science, Tanta University, Tanta, Egypt.
authors.forename: Afrah
authors.initials: A
authors.lastname: Salama
authors.affiliation: Department of Biochemistry, Faculty of Science, Tanta University, Tanta, Egypt. Electronic address: Biolab100@gmail.com.
authors.forename: Rami
authors.initials: R
authors.lastname: Elshazli
authors.affiliation: Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt.
authors.forename: Afaf
authors.initials: A
authors.lastname: Elsaid
authors.affiliation: Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Settin
mesh_terms: D000328:Adult; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D001323:Autoantibodies / Q000276:immunology*; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010456:Peptides, Cyclic / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012217:Rheumatoid Factor / Q000097:blood; D011795:Surveys and Questionnaires
chemical_list: D001323:Autoantibodies; D010456:Peptides, Cyclic; C487763:cyclic citrullinated peptide; D012217:Rheumatoid Factor; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: Anti-CCP; Gene; PTPN22; Polymorphism; Rheumatoid arthritis