Daniela Josabeth López-Cano1,2, Daniel Cadena-Sandoval1, Olga Beltrán-Ramírez3, Rosa Elda Barbosa-Cobos4, Fausto Sánchez-Muñoz5, Luis Manuel Amezcua-Guerra5, Yaneli Juárez-Vicuña5, María Concepción Aguilera-Cartas6, José Moreno7, Jesús Bautista-Olvera8, Guillermo Valencia-Pacheco9, Ricardo F López-Villanueva10, Julian Ramírez-Bello11. 1. Research Unit on Endocrine and Metabolic Diseases, Hospital Juárez de México (HJM), Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, 07760, Mexico City, D.F., Mexico. 2. Superior School of Medicine Postgraduate Program, Nacional Polytechnic Institute, Mexico City, Mexico. 3. Research Unit on Immunity and Inflammation, HJM, Mexico City, Mexico. 4. Department of Rheumatology, HJM, Mexico City, Mexico. 5. Department of Immunology, National Institute of Cardiology (NIC), Mexico City, Mexico. 6. Department of Endocrinology, HJM, Mexico City, Mexico. 7. Direction of Research, HJM, Mexico City, Mexico. 8. Blood Bank, HJM, Mexico City, Mexico. 9. Laboratory of Hematology, Regional Research Center, Autonomous University of Yucatan, Mérida, Yucatan, Mexico. 10. Regional General Hospital (ISSSTE), Health Services Yucatan (HSY), Mérida, Yucatan, Mexico. 11. Research Unit on Endocrine and Metabolic Diseases, Hospital Juárez de México (HJM), Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, 07760, Mexico City, D.F., Mexico. dr.julian.ramirez.hjm@gmail.com.
Abstract
OBJECTIVE: The functional PTPN22 R620W polymorphism (rs2476601) is clearly associated with susceptibility to several autoimmune diseases (ADs). However, the PTPN22 R263Q polymorphism (rs33996649) has been scarcely explored in different ADs. Here we aimed to examine the associations of the PTPN22 R620W and R263Q polymorphisms with susceptibility to or protection against rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD) among Mexican patients. METHODS: We conducted a case-control study including 876 patients (405 with SLE, 388 with RA, and 83 with GD) and 336 healthy control individuals. PTPN22 genotypes were determined using the TaqMan 5' allele discrimination assay. RESULTS: PTPN22 R620W was associated with GD susceptibility (OR 4.3, p = 0.004), but was not associated with SLE (OR 1.8, p = 0.19). We previously demonstrated that this polymorphism is associated with RA susceptibility (OR 4.17, p = 0.00036). Moreover, PTPN22 R263Q was associated with protection against SLE (OR 0.09, p = 004) and RA (OR 0.28, p = 0.045), but was not associated with GD. CONCLUSIONS: Our data provide the first demonstration that PTPN22 R620W confers GD susceptibility among Latin-American patients. Moreover, this is the second report documenting the association of PTPN22 R263Q with protection against SLE and RA.
OBJECTIVE: The functional PTPN22 R620W polymorphism (rs2476601) is clearly associated with susceptibility to several autoimmune diseases (ADs). However, the PTPN22R263Q polymorphism (rs33996649) has been scarcely explored in different ADs. Here we aimed to examine the associations of the PTPN22 R620W and R263Q polymorphisms with susceptibility to or protection against rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD) among Mexican patients. METHODS: We conducted a case-control study including 876 patients (405 with SLE, 388 with RA, and 83 with GD) and 336 healthy control individuals. PTPN22 genotypes were determined using the TaqMan 5' allele discrimination assay. RESULTS:PTPN22 R620W was associated with GD susceptibility (OR 4.3, p = 0.004), but was not associated with SLE (OR 1.8, p = 0.19). We previously demonstrated that this polymorphism is associated with RA susceptibility (OR 4.17, p = 0.00036). Moreover, PTPN22R263Q was associated with protection against SLE (OR 0.09, p = 004) and RA (OR 0.28, p = 0.045), but was not associated with GD. CONCLUSIONS: Our data provide the first demonstration that PTPN22 R620W confers GD susceptibility among Latin-American patients. Moreover, this is the second report documenting the association of PTPN22R263Q with protection against SLE and RA.
Authors: Adrian F Arechiga; Tania Habib; Yantao He; Xian Zhang; Zhong-Yin Zhang; Andrew Funk; Jane H Buckner Journal: J Immunol Date: 2009-03-15 Impact factor: 5.422
Authors: Julian Ramírez-Bello; Celi Sun; Guillermo Valencia-Pacheco; Bhupinder Singh; Rosa Elda Barbosa-Cobos; Miguel A Saavedra; Ricardo F López-Villanueva; Swapan K Nath Journal: PLoS One Date: 2019-11-27 Impact factor: 3.240