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Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development
Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best available treatment. However, diagnosis is hindered by...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428699/ https://www.ncbi.nlm.nih.gov/pubmed/28356555 http://dx.doi.org/10.1038/s41598-017-00563-4 |
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author | Bruhn-Olszewska, Bożena Korzon-Burakowska, Anna Węgrzyn, Grzegorz Jakóbkiewicz-Banecka, Joanna |
author_facet | Bruhn-Olszewska, Bożena Korzon-Burakowska, Anna Węgrzyn, Grzegorz Jakóbkiewicz-Banecka, Joanna |
author_sort | Bruhn-Olszewska, Bożena |
collection | PubMed |
description | Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best available treatment. However, diagnosis is hindered by obscure clinical picture of the disease and lack of molecular markers for its early detection. Results of recent research suggest that OPG-RANKL-RANK axis regulating bone metabolism can be associated with Charcot arthropathy and that SNPs in OPG gene are associated with the disease. Here we report the results of comprehensive analysis of ten SNPs in OPG, RANKL and RANK genes in 260 subjects divided into diabetes, neuropathy and Charcot arthropathy groups. Besides genotype analysis we performed linkage disequilibrium and hierarchical clustering to obtain information about correlation between SNPs. Our results show that OPG 245T/G (rs3134069) and OPG 1217C/T (rs3102734) polymorphisms co-occur in patients with Charcot arthropathy (r2 = 0.99). Moreover, hierarchical clustering revealed a characteristic profile of all SNPs in Charcot arthropathy and neuropathy, which is distinct from control group. Our results suggest that analysis of multiple SNPs can be used as potential marker of Charcot arthropathy and provide insight into possible molecular mechanisms of its development. |
format | Online Article Text |
id | pubmed-5428699 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-54286992017-05-15 Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development Bruhn-Olszewska, Bożena Korzon-Burakowska, Anna Węgrzyn, Grzegorz Jakóbkiewicz-Banecka, Joanna Sci Rep Article Charcot arthropathy is one of the most serious complications of diabetic foot syndrome that leads to amputation of the affected limb. Since there is no cure for Charcot arthropathy, early diagnosis and implementation preventive care are the best available treatment. However, diagnosis is hindered by obscure clinical picture of the disease and lack of molecular markers for its early detection. Results of recent research suggest that OPG-RANKL-RANK axis regulating bone metabolism can be associated with Charcot arthropathy and that SNPs in OPG gene are associated with the disease. Here we report the results of comprehensive analysis of ten SNPs in OPG, RANKL and RANK genes in 260 subjects divided into diabetes, neuropathy and Charcot arthropathy groups. Besides genotype analysis we performed linkage disequilibrium and hierarchical clustering to obtain information about correlation between SNPs. Our results show that OPG 245T/G (rs3134069) and OPG 1217C/T (rs3102734) polymorphisms co-occur in patients with Charcot arthropathy (r2 = 0.99). Moreover, hierarchical clustering revealed a characteristic profile of all SNPs in Charcot arthropathy and neuropathy, which is distinct from control group. Our results suggest that analysis of multiple SNPs can be used as potential marker of Charcot arthropathy and provide insight into possible molecular mechanisms of its development. Nature Publishing Group UK 2017-03-29 /pmc/articles/PMC5428699/ /pubmed/28356555 http://dx.doi.org/10.1038/s41598-017-00563-4 Text en © The Author(s) 2017 This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Bruhn-Olszewska, Bożena Korzon-Burakowska, Anna Węgrzyn, Grzegorz Jakóbkiewicz-Banecka, Joanna Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title | Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title_full | Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title_fullStr | Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title_full_unstemmed | Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title_short | Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development |
title_sort | prevalence of polymorphisms in opg, rankl and rank as potential markers for charcot arthropathy development |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428699/ https://www.ncbi.nlm.nih.gov/pubmed/28356555 http://dx.doi.org/10.1038/s41598-017-00563-4 |
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