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Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels
The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by myositis, arthritis, mechanic's hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD). We aimed to evaluate single-nucleotide polymorphisms in the interleukin 1B (IL1B) gene and their association betwe...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732678/ https://www.ncbi.nlm.nih.gov/pubmed/33330522 http://dx.doi.org/10.3389/fmed.2020.547186 |
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author | Ponce-Gallegos, Marco Antonio Ramos-Martínez, Espiridión García-Carmona, Adriana Mejía, Mayra Nava-Quiroz, Karol J. Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique González-Pérez, Montserrat I. Buendía-Roldán, Ivette Rojas-Serrano, Jorge Falfán-Valencia, Ramcés |
author_facet | Ponce-Gallegos, Marco Antonio Ramos-Martínez, Espiridión García-Carmona, Adriana Mejía, Mayra Nava-Quiroz, Karol J. Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique González-Pérez, Montserrat I. Buendía-Roldán, Ivette Rojas-Serrano, Jorge Falfán-Valencia, Ramcés |
author_sort | Ponce-Gallegos, Marco Antonio |
collection | PubMed |
description | The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by myositis, arthritis, mechanic's hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD). We aimed to evaluate single-nucleotide polymorphisms in the interleukin 1B (IL1B) gene and their association between ILD with antisynthetase autoantibodies, as well as IL-1β serum levels. The most frequent antisynthetase autoantibody was anti-Jo1. The most frequent tomographic pattern was non-specific interstitial pneumonia, whereas in the anti-Jo1 subjects, it was organized pneumonia. Anti-Jo1 patients tend to have more significant arthritis, and Raynaud phenomenon have higher levels of creatinine phosphokinase. In the IL1B gene, the GG genotype and G allele of rs1143634 [odds ratio (OR) = 2.21 and OR = 2.60, respectively, p < 0.05] are associated with an increased risk, as well as with the dominant and recessive models (p < 0.05). This finding is maintained after logistic regression analysis adjusting for potential confounding variables (p < 0.05). Subjects with the rs16944/AG heterozygous genotype had higher serum levels of IL-1β compared to homozygous (p < 0.05). In conclusion, rs1143634 is associated with a higher risk of ASSD. Also, the GA genotype is associated with higher levels of IL-1β in ASSD patients. |
format | Online Article Text |
id | pubmed-7732678 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-77326782020-12-15 Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels Ponce-Gallegos, Marco Antonio Ramos-Martínez, Espiridión García-Carmona, Adriana Mejía, Mayra Nava-Quiroz, Karol J. Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique González-Pérez, Montserrat I. Buendía-Roldán, Ivette Rojas-Serrano, Jorge Falfán-Valencia, Ramcés Front Med (Lausanne) Medicine The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by myositis, arthritis, mechanic's hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD). We aimed to evaluate single-nucleotide polymorphisms in the interleukin 1B (IL1B) gene and their association between ILD with antisynthetase autoantibodies, as well as IL-1β serum levels. The most frequent antisynthetase autoantibody was anti-Jo1. The most frequent tomographic pattern was non-specific interstitial pneumonia, whereas in the anti-Jo1 subjects, it was organized pneumonia. Anti-Jo1 patients tend to have more significant arthritis, and Raynaud phenomenon have higher levels of creatinine phosphokinase. In the IL1B gene, the GG genotype and G allele of rs1143634 [odds ratio (OR) = 2.21 and OR = 2.60, respectively, p < 0.05] are associated with an increased risk, as well as with the dominant and recessive models (p < 0.05). This finding is maintained after logistic regression analysis adjusting for potential confounding variables (p < 0.05). Subjects with the rs16944/AG heterozygous genotype had higher serum levels of IL-1β compared to homozygous (p < 0.05). In conclusion, rs1143634 is associated with a higher risk of ASSD. Also, the GA genotype is associated with higher levels of IL-1β in ASSD patients. Frontiers Media S.A. 2020-11-24 /pmc/articles/PMC7732678/ /pubmed/33330522 http://dx.doi.org/10.3389/fmed.2020.547186 Text en Copyright © 2020 Ponce-Gallegos, Ramos-Martínez, García-Carmona, Mejía, Nava-Quiroz, Pérez-Rubio, Ambrocio-Ortiz, González-Pérez, Buendía-Roldán, Rojas-Serrano and Falfán-Valencia. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Ponce-Gallegos, Marco Antonio Ramos-Martínez, Espiridión García-Carmona, Adriana Mejía, Mayra Nava-Quiroz, Karol J. Pérez-Rubio, Gloria Ambrocio-Ortiz, Enrique González-Pérez, Montserrat I. Buendía-Roldán, Ivette Rojas-Serrano, Jorge Falfán-Valencia, Ramcés Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title | Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title_full | Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title_fullStr | Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title_full_unstemmed | Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title_short | Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels |
title_sort | genetic susceptibility to antisynthetase syndrome associated with single-nucleotide variants in the il1b gene that lead variation in il-1β serum levels |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732678/ https://www.ncbi.nlm.nih.gov/pubmed/33330522 http://dx.doi.org/10.3389/fmed.2020.547186 |
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