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Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings

Background: Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental...

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Autores principales: Agnello, Luisa, Scazzone, Concetta, Lo Sasso, Bruna, Vidali, Matteo, Giglio, Rosaria Vincenza, Ciaccio, Anna Maria, Ragonese, Paolo, Salemi, Giuseppe, Ciaccio, Marcello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394239/
https://www.ncbi.nlm.nih.gov/pubmed/35893044
http://dx.doi.org/10.3390/genes13081307
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author Agnello, Luisa
Scazzone, Concetta
Lo Sasso, Bruna
Vidali, Matteo
Giglio, Rosaria Vincenza
Ciaccio, Anna Maria
Ragonese, Paolo
Salemi, Giuseppe
Ciaccio, Marcello
author_facet Agnello, Luisa
Scazzone, Concetta
Lo Sasso, Bruna
Vidali, Matteo
Giglio, Rosaria Vincenza
Ciaccio, Anna Maria
Ragonese, Paolo
Salemi, Giuseppe
Ciaccio, Marcello
author_sort Agnello, Luisa
collection PubMed
description Background: Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, and vitamin D-related SNPs, alone or in combination. Methods: In a cohort of 100 MS patients, we genotyped 18 SNPs in the following genes: NAD synthetase 1, CYP2R1, vitamin D binding protein, vitamin D receptor, Retinoid X Receptor-α, KLOTHO, CYP24A1, and CYP27A1. Serum 25(OH)D3 levels were measured by high-performance liquid chromatography. Genotyping was performed by real-time polymerase chain reaction or PCR-RFLP. Results: We did not find any association between SNPs, alone or in combination, and MS severity. Conclusion: In this study, we make an initial evaluation of the possible influence of several SNPs in vitamin D-related genes on MS severity.
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spelling pubmed-93942392022-08-23 Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings Agnello, Luisa Scazzone, Concetta Lo Sasso, Bruna Vidali, Matteo Giglio, Rosaria Vincenza Ciaccio, Anna Maria Ragonese, Paolo Salemi, Giuseppe Ciaccio, Marcello Genes (Basel) Article Background: Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, and vitamin D-related SNPs, alone or in combination. Methods: In a cohort of 100 MS patients, we genotyped 18 SNPs in the following genes: NAD synthetase 1, CYP2R1, vitamin D binding protein, vitamin D receptor, Retinoid X Receptor-α, KLOTHO, CYP24A1, and CYP27A1. Serum 25(OH)D3 levels were measured by high-performance liquid chromatography. Genotyping was performed by real-time polymerase chain reaction or PCR-RFLP. Results: We did not find any association between SNPs, alone or in combination, and MS severity. Conclusion: In this study, we make an initial evaluation of the possible influence of several SNPs in vitamin D-related genes on MS severity. MDPI 2022-07-22 /pmc/articles/PMC9394239/ /pubmed/35893044 http://dx.doi.org/10.3390/genes13081307 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Agnello, Luisa
Scazzone, Concetta
Lo Sasso, Bruna
Vidali, Matteo
Giglio, Rosaria Vincenza
Ciaccio, Anna Maria
Ragonese, Paolo
Salemi, Giuseppe
Ciaccio, Marcello
Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title_full Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title_fullStr Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title_full_unstemmed Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title_short Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings
title_sort role of multiple vitamin d-related polymorphisms in multiple sclerosis severity: preliminary findings
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394239/
https://www.ncbi.nlm.nih.gov/pubmed/35893044
http://dx.doi.org/10.3390/genes13081307
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