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Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy
BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825867/ https://www.ncbi.nlm.nih.gov/pubmed/31566926 http://dx.doi.org/10.1002/mgg3.979 |
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author | López‐Jiménez, José de Jesús Ortega‐Cervantes, Ricardo Luna‐Záizar, Hilda Fletes‐Rayas, Ana‐Lilia Beltrán‐Miranda, Claudia‐Patricia Troyo‐Sanromán, Rogelio Soto‐Padilla, Janet Tlacuilo‐Parra, Alberto Jaloma‐Cruz, Ana‐Rebeca |
author_facet | López‐Jiménez, José de Jesús Ortega‐Cervantes, Ricardo Luna‐Záizar, Hilda Fletes‐Rayas, Ana‐Lilia Beltrán‐Miranda, Claudia‐Patricia Troyo‐Sanromán, Rogelio Soto‐Padilla, Janet Tlacuilo‐Parra, Alberto Jaloma‐Cruz, Ana‐Rebeca |
author_sort | López‐Jiménez, José de Jesús |
collection | PubMed |
description | BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα‐308G>A and ‐238G>A, ACAN VNTR, and IL1RN*2‐VNTR were identified. RESULTS: Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα‐308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). CONCLUSIONS: The distribution of risk genotypes for MTHFR and TNFα‐308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations. |
format | Online Article Text |
id | pubmed-6825867 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-68258672019-11-07 Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy López‐Jiménez, José de Jesús Ortega‐Cervantes, Ricardo Luna‐Záizar, Hilda Fletes‐Rayas, Ana‐Lilia Beltrán‐Miranda, Claudia‐Patricia Troyo‐Sanromán, Rogelio Soto‐Padilla, Janet Tlacuilo‐Parra, Alberto Jaloma‐Cruz, Ana‐Rebeca Mol Genet Genomic Med Original Articles BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα‐308G>A and ‐238G>A, ACAN VNTR, and IL1RN*2‐VNTR were identified. RESULTS: Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα‐308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). CONCLUSIONS: The distribution of risk genotypes for MTHFR and TNFα‐308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations. John Wiley and Sons Inc. 2019-09-30 /pmc/articles/PMC6825867/ /pubmed/31566926 http://dx.doi.org/10.1002/mgg3.979 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Articles López‐Jiménez, José de Jesús Ortega‐Cervantes, Ricardo Luna‐Záizar, Hilda Fletes‐Rayas, Ana‐Lilia Beltrán‐Miranda, Claudia‐Patricia Troyo‐Sanromán, Rogelio Soto‐Padilla, Janet Tlacuilo‐Parra, Alberto Jaloma‐Cruz, Ana‐Rebeca Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title | Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title_full | Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title_fullStr | Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title_full_unstemmed | Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title_short | Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
title_sort | genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825867/ https://www.ncbi.nlm.nih.gov/pubmed/31566926 http://dx.doi.org/10.1002/mgg3.979 |
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