Interactions between TNFAIP3, PTPN22, and TRAF1-C5 gene polymorphisms in patients with primary Sjögren's syndrome
Daniel Cadena-Sandoval1
, Isela Montúfar-Robles2, Rosa Elda Barbosa-Cobos5, Gabriela Hernández-Molina6, Ana Karen Salas-García5, Norma Sánchez-Zauco3, Julian Ramírez-Bello4
1Universidad Juárez Autónoma De Tabasco, Comalcalco Multidisciplinary Academic Division, Comalcalco, Tabasco, Mexico
2División De Investigación, Hospital Juárez De México, Ciudad De México, Mexico
3División De Diagnostico Y Tratamientos Auxiliares, Centro Médico Nacional Siglo Xxi, Ciudad De México, Mexico
4Subdirección de Investigación Clínica, Instituto Nacional De Cardiologia Ignacio Chávez, Ciudad De Mexico, Mexico
5Departamento De Reumatología, Hospital Juárez De México, Ciudad De México, Mexico
6Departamento De Inmunología Y Reumatología, Instituto Nacional De Ciencias Médicas Y Nutrición, Ciudad De México , Mexico
Keywords: Genetic interaction, primary Sjögren’s syndrome, PTPN22, TNFAIP3, TRAF1-C5.
Abstract
Objectives: The aim of our study was to investigate whether TNFAIP3, PTPN22, and TRAF1-5 single nucleotide polymorphisms (SNPs) are associated with susceptibility, severity, or serological markers in primary Sjögren’s syndrome (pSS).
Patients and methods: The cases and controls study was conducted between December 2021 and June 2022. TNFAIP3 rs10499194C/T, rs6920220G/A, and rs2230926T/G, PTPN22 rs2476601C/T and rs33996649G/A, and TRAF1-C5 rs10818488G/A polymorphisms were genotyped in 154 female pSS patients (mean age: 45.2±6.8 years) and 313 female control subjects (mean age: 50.3±7.5 years) using the TaqMan® SNP genotyping assay. An association analysis between TNFAIP3, PTPN22, and TRAF1-C5 SNPs and susceptibility, clinical characteristics, and serological markers of pSS was performed. Interactions between TNFAIP3, PTPN22, and TRAF1-C5 SNPs were also evaluated in patients and controls.
Results: The genotype and allele frequencies showed no association with susceptibility, severity, or serological markers of pSS. Nevertheless, several interactions between TNFAIP3 and TRAF1-C5 or TNFAIP3, PTPN22, and TRAF1-C5 genotypes were associated with susceptibility to pSS (p<0.01).
Conclusion: Individual TNFAIP3, PTPN22, and TRAF1-C5 SNPs are not associated with susceptibility, severity, or serological markers of pSS. However, genetic interactions between TRAF1-C5 and TNFAIP3 or TNFAIP3, PTPN22, and TRAF1-C5 SNPs are risk factors for pSS.
Citation: Cadena-Sandoval D, Montúfar-Robles I, Barbosa-Cobos RE, Hernández-Molina G, Salas-García AK, Sánchez-Zauco N, RamírezBello J. Interactions between TNFAIP3, PTPN22, and TRAF1-C5 gene polymorphisms in patients with primary Sjögren's syndrome. Arch Rheumatol 2024;39(1):60-70. doi: 10.46497/ ArchRheumatol.2024.10108.
The study protocol was approved by the Juárez de México Hospital Ethics Committee (date: September 2021, no: HJM 020/21-I). The study was conducted in accordance with the principles of the Declaration of Helsinki.
A written informed consent was obtained from each patient.
Implemented the experiments, participated in data analysis, and wrote the draft of the manuscript: D.C.S.; Implemented the experiments and contributed to data analysis: I.M.R.; Participated in the recruitment of patients with pSS and contributed to data analysis: R.E.B.C., G.H.M.; Was responsible for the conception and design of the experiments, participated in data analysis, and contributed to the review and final writing of the manuscript: J.R.B.; Implemented the experiments and contributed to data analysis: N.S.Z.; Participated in the recruitment of patients with pSS and contributed to data analysis: A.K.S.G.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.
The data that support the findings of this study are available from the corresponding author upon reasonable request.