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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-9394239 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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