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.

OBJECTIVES:

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.

SUBJECTS AND 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: Afrah Salama, Rami Elshazli, Afaf Elsaid, Ahmad Settin
• Journal: Cellular immunology (Cell Immunol) Vol. 290 Issue 1 Pg. 62-5 (Jul 2014) ISSN: 1090-2163 [Electronic] Netherlands
• PMID: 24880676 (Publication Type: Journal Article)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• Autoantibodies
• Peptides, Cyclic
• cyclic citrullinated peptide
• Rheumatoid Factor
• PTPN22 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 22

Topics

• Adult
• Alleles
• Arthritis, Rheumatoid (genetics)
• Autoantibodies (immunology)
• Egypt
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Genome-Wide Association Study
• Genotype
• Humans
• Male
• Middle Aged
• Peptides, Cyclic (immunology)
• Polymorphism, Single Nucleotide
• Protein Tyrosine Phosphatase, Non-Receptor Type 22 (genetics)
• Rheumatoid Factor (blood)
• Surveys and Questionnaires