PTPN22 rs2488457C˃G and TRAF1-C5 rs10818488A˃G and rs3761847G˃A variants in Mexican mestizo women with Systemic Lupus Erythematosus
Main Article Content
Abstract
Introduction: Systemic lupus erythematosus is an autoimmune disease with higher prevalence in women. Single nucleotide variants in genes involved in the regulation of autoreactive cells, such as PTPN22 rs2488457C˃G, and TRAF1-C5 rs10818488A˃G and rs3761847G˃A, have been associated with the disease in some populations; however, little is known about these variants in the Mexican mestizo population. Aim: We analyzed whether these variants are associated with lupus in women from Central Mexico and Yucatan. Methods: DNA samples from two hundred female patients with lupus (100 from Yucatan and 100 from Central Mexico) and 200 female healthy controls (100 from Yucatan and 100 from Central Mexico) were genotyped. Allelic and genotypic frequencies of variants were calculated and their association with lupus was analyzed. Results: Distribution of risk allele PTPN22 rs2488457G ranged 36% to 48%, while TRAF1-C5 rs10818488A and rs3761847G ranged from 34% to 40%. Heterozygous C/G was the most frequent for PTPN22 rs2488457 in all studied groups, while TRAF1-C5 heterozygous genotype was the most frequent in cases of Yucatan and controls from Central Mexico. However, we did not find significant differences in allelic and genotypic frequencies of PTPN22 and TRAF1-C5 variants, neither its haplotypes between cases and controls, suggesting a lack of association for lupus in the two Mexican populations. Conclusion: The PTPN22 rs2488457C˃G and TRAF1-C5 rs10818488A˃G and rs3761847G˃A variants do not confer susceptibility with the development of lupus in both studiedpopulations. However, the strong linkage disequilibrium observed in the TRAF1-C5 haplotypes suggests that they are co-inherited together and could be involved in the development of the disease in association with other genes or risk factors, as well as the Caucasian influence.
Keywords:
Systemic lupus erythematosus, PTPN22, TRAF1-C5, Variants, Yucatan, Mexico Central
Article Details
How to Cite
JIMÉNEZ-BECERRA, Eduardo D. et al.
PTPN22 rs2488457C˃G and TRAF1-C5 rs10818488A˃G and rs3761847G˃A variants in Mexican mestizo women with Systemic Lupus Erythematosus.
Medical Research Archives, [S.l.], v. 12, n. 6, june 2024.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/5520>. Date accessed: 23 nov. 2024.
doi: https://doi.org/10.18103/mra.v12i6.5520.
Section
Research Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
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2. Tsokos GC, Lo MS, Costa Reis P, Sullivan KE. New insights into the immunopathogenesis of systemic lupus erythematosus. Nat Rev Rheu-matol. 2016;12(12):716-730. Doi:10.1038/nrrheum.2016.186.
3. Pieterse E, van der Vlag J. Breaking immuno-logical tolerance in systemic lupus erythemato-sus. Front Immunol. 2014; 5:164. Doi:10.3389/fimmu.2014.00164
4. Reefman E, Horst G, Nijk MT, Limburg PC, Kal-lenberg CG, Bijl M. Opsonization of late apop¬totic cells by systemic lupus erythematosus au¬toantibodies inhibits their uptake via an Fc-gamma receptor-dependent mechanism. Arthri¬tis Rheum. 2007;56(10):3399-3411. Doi:10.1002/art.22947.
5. Rees F, Doherty M, Grainge MJ, Lanyon P, Zhang W. The worldwide incidence and preva¬lence of systemic lupus erythematosus: a system¬atic review of epidemiological studies. Rheuma¬tology (Oxford). 2017;56(11):1945-1961. Doi:10.1093/rheumatology/kex260.
6. Weckerle CE, Niewold TB. The unexplained fe¬male predominance of systemic lupus erythe¬matosus: clues from genetic and cytokine stud¬ies. Clin Rev Allergy Immunol. 2011;40(1):42-49. Doi:10.1007/s12016-009-8192-4
7. McCarty DJ, Manzi S, Medsger TA Jr, Ramsey-Goldman R, LaPorte RE, Kwoh CK. Incidence of systemic lupus erythematosus. Race and gender differences. Arthritis Rheum. 1995;38(9):1260-1270. Doi:10.1002/art.1780380914
8. Ameer MA, Chaudhry H, Mushtaq J, et al. An Overview of Systemic Lupus Erythematosus (SLE) Pathogenesis, Classification, and Man-agement. Cureus. 2022;14(10):e30330. Pub-lished 2022 Oct 15. Doi:10.7759/cu-reus.30330
9. Alvarez-Nemegyei J, Peláez-Ballestas I, Sanin LH, Cardiel MH, Ramírez-Angulo A, Goy-cochea-Robles MV. Prevalence of musculoskel-etal pain and rheumatic diseases in the south-eastern region of Mexico. A COPCORD-based community survey. J Rheumatol Suppl. 2011;86:21-25. Doi:10.3899/jrheum.100954
10. Peláez-Ballestas I, Sanin LH, Moreno-Montoya J, et al. Epidemiology of the rheumatic diseases in Mexico. A study of 5 regions based on the COPCORD methodology. J Rheumatol Suppl. 2011 Mar;38(3):585]. J Rheumatol Suppl. 2011;86:3-8. Doi:10.3899/jrheum.100951
11. Deng Y, Tsao BP. Genetics of human SLE. Du-bois' Lupus Erythematosus and Related Syn-dromes (Ninth Edition). Wallace DJ, Hahn BH (ed): Elsevier, London; 2019. 54-68. 10.1016/B978-0-323-47927-1.00005-0
12. Armstrong DL, Zidovetzki R, Alarcón-Riquelme ME, et al. GWAS identifies novel SLE suscepti-bility genes and explains the association of the HLA region. Genes Immun. 2014;15(6):347-354. Doi:10.1038/gene.2014.23
13. Deng Y, Tsao BP. Genetic susceptibility to sys-temic lupus erythematosus in the genomic era. Nat Rev Rheumatol. 2010;6(12):683-692. Doi:10.1038/nrrheum.2010.176
14. Burn GL, Svensson L, Sanchez-Blanco C, Saini M, Cope AP. Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?. FEBS Lett. 2011;585(23):3689-3698. Doi:10.1016/j.febslet.2011.04.032
15. Román-Fernández IV, Machado-Contreras JR, Muñoz-Valle JF, Cruz A, Salazar-Camarena DC, Palafox-Sánchez CA. Altered PTPN22 and IL10 mRNA Expression Is Associated with Dis¬ease Activity and Renal Involvement in Systemic Lupus Erythematosus. Diagnostics (Basel). 2022;12(11):2859. Published 2022 Nov 18. Doi:10.3390/diagnostics12112859
16. Stanford SM, Bottini N. PTPN22: the archetypal non-HLA autoimmunity gene. Nat Rev Rheu¬matol. 2014;10(10):602-611. Doi:10.1038/nrrheum.2014.109
17. Siminovitch KA. PTPN22 and autoimmune dis-ease. Nat Genet. 2004;36(12):1248-1249. Doi:10.1038/ng1204-1248.
18. Wu H, Cantor RM, Graham DS, et al. Associa-tion analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in sys-temic lupus erythematosus families: increased T allele frequency in systemic lupus erythemato-sus patients with autoimmune thyroid disease. Arthritis Rheum. 2005;52(8):2396-2402. Doi:10.1002/art.21223
19. Bottini N, Musumeci L, Alonso A, et al. A func-tional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004;36(4):337-338. Doi:10.1038/ng1323
20. Tizaoui K, Shin JI, Jeong GH, et al. Genetic Pol¬ymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review. Medicina (Kaunas). 2022;58(8):1034. Published 2022 Aug 2. Doi:10.3390/medicina58081034
21. Kawasaki E, Awata T, Ikegami H, et al. System¬atic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter pol¬ymorphism and type 1 diabetes in Asian popu¬lations [published correction appears in Am J Med Genet A. 2007 Aug 1;143(15):18212-3. Uga, Mho [corrected to Uga, Miho]]. Am J Med Genet A. 2006;140(6):586-593. Doi:10.1002/ajmg.a.31124
22. Feng X, Li YZ, Zhang Y, et al. Association of the PTPN22 gene (-1123G > C) polymorphism with rheumatoid arthritis in Chinese patients. Tissue Antigens. 2010;76(4):297-300. Doi:10.1111/j.1399-0039.2010.01521.x
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