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Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients
BACKGROUND: The increased expression of B cell‐activating factor (BAFF) has been linked to autoantibody production in autoimmune diseases (ADs). The aim of this study was to investigate the association among TNFSF13B gene (OMIM: 603969) single nucleotide polymorphisms (SNPs), TNFSF13B mRNA, and solu...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184664/ https://www.ncbi.nlm.nih.gov/pubmed/35411715 http://dx.doi.org/10.1002/mgg3.1950 |
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author | Santillán‐López, Enrique Muñoz‐Valle, José Francisco Oregon‐Romero, Edith Espinoza‐García, Noemí Treviño‐Talavera, Beatriz Alejandra Salazar‐Camarena, Diana Celeste Marín‐Rosales, Miguel Cruz, Alvaro Alvarez‐Gómez, Jhonatan Antonio Sagrero‐Fabela, Nefertari Cerpa‐Cruz, Sergio Palafox‐Sánchez, Claudia Azucena |
author_facet | Santillán‐López, Enrique Muñoz‐Valle, José Francisco Oregon‐Romero, Edith Espinoza‐García, Noemí Treviño‐Talavera, Beatriz Alejandra Salazar‐Camarena, Diana Celeste Marín‐Rosales, Miguel Cruz, Alvaro Alvarez‐Gómez, Jhonatan Antonio Sagrero‐Fabela, Nefertari Cerpa‐Cruz, Sergio Palafox‐Sánchez, Claudia Azucena |
author_sort | Santillán‐López, Enrique |
collection | PubMed |
description | BACKGROUND: The increased expression of B cell‐activating factor (BAFF) has been linked to autoantibody production in autoimmune diseases (ADs). The aim of this study was to investigate the association among TNFSF13B gene (OMIM: 603969) single nucleotide polymorphisms (SNPs), TNFSF13B mRNA, and soluble BAFF (sBAFF) expression in patients with rheumatoid arthritis (RA) and primary Sjögren's syndrome (pSS). The diagnostic value of sBAFF also was evaluated by the area under the curve (AUC) of receiver operating characteristic or receptor (ROC) curves. METHODS: Genotypes of the TNFSF13B rs9514827 (−2841 T > C), rs1041569 (−2701 A > T) and rs9514828 (−871 C > T) SNPs were determined by PCR‐RFLP assay. TNFSF13B mRNA and sBAFF expression were performed by RT‐qPCR and ELISA, respectively. The study included 320 RA patients, 101 pSS patients, and 309 healthy subjects (HS). RESULTS: The rs9514828 T allele and the TAT haplotype were associated with an increased risk to develop RA. In both ADs, the TNFSF13B mRNA levels were increased in comparison with HS. The rs9514828 (−871 C > T) polymorphism was associated with increased gene expression in RA patients. Also, sBAFF levels were higher in both ADs, however pSS patients showed the highest sBAFF levels. sBAFF showed higher diagnostic performance for pSS with an AUC of 0.968, with a similar accuracy of anti‐SSA/Ro antibody diagnosis (AUC = 0.974). CONCLUSIONS: Our findings demonstrate that the TNFSF13B rs9514828 (−871 C > T) polymorphism is a risk factor for RA in the western Mexican population. sBAFF levels may be a potential diagnosis biomarker in pSS. |
format | Online Article Text |
id | pubmed-9184664 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-91846642022-06-14 Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients Santillán‐López, Enrique Muñoz‐Valle, José Francisco Oregon‐Romero, Edith Espinoza‐García, Noemí Treviño‐Talavera, Beatriz Alejandra Salazar‐Camarena, Diana Celeste Marín‐Rosales, Miguel Cruz, Alvaro Alvarez‐Gómez, Jhonatan Antonio Sagrero‐Fabela, Nefertari Cerpa‐Cruz, Sergio Palafox‐Sánchez, Claudia Azucena Mol Genet Genomic Med Original Articles BACKGROUND: The increased expression of B cell‐activating factor (BAFF) has been linked to autoantibody production in autoimmune diseases (ADs). The aim of this study was to investigate the association among TNFSF13B gene (OMIM: 603969) single nucleotide polymorphisms (SNPs), TNFSF13B mRNA, and soluble BAFF (sBAFF) expression in patients with rheumatoid arthritis (RA) and primary Sjögren's syndrome (pSS). The diagnostic value of sBAFF also was evaluated by the area under the curve (AUC) of receiver operating characteristic or receptor (ROC) curves. METHODS: Genotypes of the TNFSF13B rs9514827 (−2841 T > C), rs1041569 (−2701 A > T) and rs9514828 (−871 C > T) SNPs were determined by PCR‐RFLP assay. TNFSF13B mRNA and sBAFF expression were performed by RT‐qPCR and ELISA, respectively. The study included 320 RA patients, 101 pSS patients, and 309 healthy subjects (HS). RESULTS: The rs9514828 T allele and the TAT haplotype were associated with an increased risk to develop RA. In both ADs, the TNFSF13B mRNA levels were increased in comparison with HS. The rs9514828 (−871 C > T) polymorphism was associated with increased gene expression in RA patients. Also, sBAFF levels were higher in both ADs, however pSS patients showed the highest sBAFF levels. sBAFF showed higher diagnostic performance for pSS with an AUC of 0.968, with a similar accuracy of anti‐SSA/Ro antibody diagnosis (AUC = 0.974). CONCLUSIONS: Our findings demonstrate that the TNFSF13B rs9514828 (−871 C > T) polymorphism is a risk factor for RA in the western Mexican population. sBAFF levels may be a potential diagnosis biomarker in pSS. John Wiley and Sons Inc. 2022-04-12 /pmc/articles/PMC9184664/ /pubmed/35411715 http://dx.doi.org/10.1002/mgg3.1950 Text en © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Santillán‐López, Enrique Muñoz‐Valle, José Francisco Oregon‐Romero, Edith Espinoza‐García, Noemí Treviño‐Talavera, Beatriz Alejandra Salazar‐Camarena, Diana Celeste Marín‐Rosales, Miguel Cruz, Alvaro Alvarez‐Gómez, Jhonatan Antonio Sagrero‐Fabela, Nefertari Cerpa‐Cruz, Sergio Palafox‐Sánchez, Claudia Azucena Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title | Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title_full | Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title_fullStr | Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title_full_unstemmed | Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title_short | Analysis of TNFSF13B polymorphisms and BAFF expression in rheumatoid arthritis and primary Sjögren's syndrome patients |
title_sort | analysis of tnfsf13b polymorphisms and baff expression in rheumatoid arthritis and primary sjögren's syndrome patients |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184664/ https://www.ncbi.nlm.nih.gov/pubmed/35411715 http://dx.doi.org/10.1002/mgg3.1950 |
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