Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population
Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of antibodies against cyclic citrullinated peptide (anti-CCP), a consequence of the breakdown of immune tolerance. The lymphoid tyrosine phosphatase (Lyp) protein has significant effects on maintenance of peripheral imm...
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Wiley
2017-01-01
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Series: | International Journal of Genomics |
Online Access: | http://dx.doi.org/10.1155/2017/8753498 |
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author | Yeniley Ruiz-Noa Jorge Ramón Padilla-Gutiérrez Jorge Hernández-Bello Claudia Azucena Palafox-Sánchez Yeminia Valle Edith Oregón-Romero Ana Laura Pereira-Suárez Ana Guilaisne Bernard-Medina José Francisco Muñoz-Valle |
author_facet | Yeniley Ruiz-Noa Jorge Ramón Padilla-Gutiérrez Jorge Hernández-Bello Claudia Azucena Palafox-Sánchez Yeminia Valle Edith Oregón-Romero Ana Laura Pereira-Suárez Ana Guilaisne Bernard-Medina José Francisco Muñoz-Valle |
author_sort | Yeniley Ruiz-Noa |
collection | DOAJ |
description | Rheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of antibodies against cyclic citrullinated peptide (anti-CCP), a consequence of the breakdown of immune tolerance. The lymphoid tyrosine phosphatase (Lyp) protein has significant effects on maintenance of peripheral immune tolerance. Two polymorphic variants (−1123G>C and +1858C>T) at PTPN22 gene that encodes this protein have been associated with autoimmune disorders and found in strong linkage disequilibrium in Caucasian population. We evaluated whether PTPN22 haplotypes (−1123G>C/+1858C>T) are associated with anti-CCP antibodies, as well as susceptibility to RA in a Western Mexican population. A total of 315 RA patients and 315 control subjects (CS) were included. The polymorphisms were genotyped by PCR-RFLP and the anti-CCP antibodies were determined by ELISA. The PTPN22 polymorphisms were in strong linkage disequilibrium (D′ = 1.00 in CS). The susceptibility haplotype CT was significantly more frequent in RA patients than in CS (OR 2.18, 95% CI 1.15–4.16, p=0.01). No association between haplotypes and anti-CCP antibodies levels was observed. In conclusion, this study confirmed that −1123G>C and +1858C>T PTPN22 polymorphisms are in strong linkage disequilibrium and the CT haplotype is a susceptibility marker to RA in Western Mexico. However, the PTPN22 haplotypes are not associated with anti-CCP antibodies. |
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institution | Kabale University |
issn | 2314-436X 2314-4378 |
language | English |
publishDate | 2017-01-01 |
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series | International Journal of Genomics |
spelling | doaj-art-92e6f43d05b34789af0ef1ebafcecf1a2025-02-03T01:22:31ZengWileyInternational Journal of Genomics2314-436X2314-43782017-01-01201710.1155/2017/87534988753498Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican PopulationYeniley Ruiz-Noa0Jorge Ramón Padilla-Gutiérrez1Jorge Hernández-Bello2Claudia Azucena Palafox-Sánchez3Yeminia Valle4Edith Oregón-Romero5Ana Laura Pereira-Suárez6Ana Guilaisne Bernard-Medina7José Francisco Muñoz-Valle8Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoServicio de Reumatología, OPD Hospital Civil de Guadalajara “Fray Antonio Alcalde”, Guadalajara, JAL, MexicoInstituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoRheumatoid arthritis (RA) is an autoimmune disease characterized by the presence of antibodies against cyclic citrullinated peptide (anti-CCP), a consequence of the breakdown of immune tolerance. The lymphoid tyrosine phosphatase (Lyp) protein has significant effects on maintenance of peripheral immune tolerance. Two polymorphic variants (−1123G>C and +1858C>T) at PTPN22 gene that encodes this protein have been associated with autoimmune disorders and found in strong linkage disequilibrium in Caucasian population. We evaluated whether PTPN22 haplotypes (−1123G>C/+1858C>T) are associated with anti-CCP antibodies, as well as susceptibility to RA in a Western Mexican population. A total of 315 RA patients and 315 control subjects (CS) were included. The polymorphisms were genotyped by PCR-RFLP and the anti-CCP antibodies were determined by ELISA. The PTPN22 polymorphisms were in strong linkage disequilibrium (D′ = 1.00 in CS). The susceptibility haplotype CT was significantly more frequent in RA patients than in CS (OR 2.18, 95% CI 1.15–4.16, p=0.01). No association between haplotypes and anti-CCP antibodies levels was observed. In conclusion, this study confirmed that −1123G>C and +1858C>T PTPN22 polymorphisms are in strong linkage disequilibrium and the CT haplotype is a susceptibility marker to RA in Western Mexico. However, the PTPN22 haplotypes are not associated with anti-CCP antibodies.http://dx.doi.org/10.1155/2017/8753498 |
spellingShingle | Yeniley Ruiz-Noa Jorge Ramón Padilla-Gutiérrez Jorge Hernández-Bello Claudia Azucena Palafox-Sánchez Yeminia Valle Edith Oregón-Romero Ana Laura Pereira-Suárez Ana Guilaisne Bernard-Medina José Francisco Muñoz-Valle Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population International Journal of Genomics |
title | Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population |
title_full | Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population |
title_fullStr | Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population |
title_full_unstemmed | Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population |
title_short | Association of PTPN22 Haplotypes (−1123G>C/+1858C>T) with Rheumatoid Arthritis in Western Mexican Population |
title_sort | association of ptpn22 haplotypes 1123g c 1858c t with rheumatoid arthritis in western mexican population |
url | http://dx.doi.org/10.1155/2017/8753498 |
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