Abstract
To assess impact of PTPN22 1858C→T polymorphism, HLA shared epitope and autoantibodies on susceptibility and severity of rheumatoid arthritis (RA). A total of 150 RA patients and 150 controls were included in the study. Anti-cyclic citrullinated peptide (anti-CCP) and rheumatoid factor isotypes (IgG, IgM and IgA) were assayed by ELISA. PTPN22 1858C→T polymorphism was performed by RFLP analysis and HLA-DRB1 genotyping by PCR-SSP analysis. Single-view, anteroposterior radiographs of the hands and feet were obtained on all RA patients. The results showed association of PTPN22 1858 T allele with RA (OR = 2.3, 95 % CI 1.5–3.5) and bone erosion (OR = 2.9, 95 % CI 1.1–7.6). The associations increased with the combination of positive autoantibodies, HLA-DRB1 SE with PTPN22 1858 T allele carriage. The highest association was with the combination with anti-CCP antibodies (OR = 47.3, 95 % CI 10.9–204.4 for RA and OR = 69.4, 95 % CI 15.8–305.5 for erosion p < 0.001). Combination of PTPN22 1858 T allele carriage with negative RF isotypes or with absence HLA-DRB1 SE showed no significant association with RA. The presence of PTPN22 1858C→T polymorphism with HLA SE and autoantibodies increases risk of RA development and erosive disease.
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Acknowledgments
This study was funded by the Science and Technology Development Fund (STDF), Egypt, Grant No. 3242. The authors thank Iman Fikri, Amira El Gogary, Sherif Ismail and Iman Bayoumi for their help with sample preparation and data collection.
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The study has been approved by the ethical committee of the National Research Centre and has been performed in accordance with the ethical standards of the National Research Centre committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
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Raslan, H.M., Attia, H.R., Salama, I. et al. Association of PTPN22 1858C→T polymorphism, HLA-DRB1 shared epitope and autoantibodies with rheumatoid arthritis. Rheumatol Int 36, 1167–1175 (2016). https://doi.org/10.1007/s00296-016-3511-6
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DOI: https://doi.org/10.1007/s00296-016-3511-6