Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development

Abstract 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 hi...

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Autores principales:	Bożena Bruhn-Olszewska, Anna Korzon-Burakowska, Grzegorz Węgrzyn, Joanna Jakóbkiewicz-Banecka
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a0749f39c6fa4cefb935b5c24a69437d
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spelling	oai:doaj.org-article:a0749f39c6fa4cefb935b5c24a69437d2021-12-02T16:07:49ZPrevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development10.1038/s41598-017-00563-42045-2322https://doaj.org/article/a0749f39c6fa4cefb935b5c24a69437d2017-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00563-4https://doaj.org/toc/2045-2322Abstract 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.Bożena Bruhn-OlszewskaAnna Korzon-BurakowskaGrzegorz WęgrzynJoanna Jakóbkiewicz-BaneckaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Bożena Bruhn-Olszewska Anna Korzon-Burakowska Grzegorz Węgrzyn Joanna Jakóbkiewicz-Banecka Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development
description	Abstract 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	article
author	Bożena Bruhn-Olszewska Anna Korzon-Burakowska Grzegorz Węgrzyn Joanna Jakóbkiewicz-Banecka
author_facet	Bożena Bruhn-Olszewska Anna Korzon-Burakowska Grzegorz Węgrzyn Joanna Jakóbkiewicz-Banecka
author_sort	Bożena Bruhn-Olszewska
title	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_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_sort	prevalence of polymorphisms in opg, rankl and rank as potential markers for charcot arthropathy development
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/a0749f39c6fa4cefb935b5c24a69437d
work_keys_str_mv	AT bozenabruhnolszewska prevalenceofpolymorphismsinopgranklandrankaspotentialmarkersforcharcotarthropathydevelopment AT annakorzonburakowska prevalenceofpolymorphismsinopgranklandrankaspotentialmarkersforcharcotarthropathydevelopment AT grzegorzwegrzyn prevalenceofpolymorphismsinopgranklandrankaspotentialmarkersforcharcotarthropathydevelopment AT joannajakobkiewiczbanecka prevalenceofpolymorphismsinopgranklandrankaspotentialmarkersforcharcotarthropathydevelopment
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Prevalence of polymorphisms in OPG, RANKL and RANK as potential markers for Charcot arthropathy development

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