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Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study
Vitamin D has immunomodulatory effects, and its deficiency has been implicated in the autoimmune process of type 1 diabetes. Serum vitamin D levels are influenced by variants in genes involved in the synthesis, transport, hydroxylation and degradation of vitamin D. The aim of this study was to asses...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465037/ https://www.ncbi.nlm.nih.gov/pubmed/32764491 http://dx.doi.org/10.3390/genes11080897 |
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author | Almeida, Joana T. Rodrigues, Dircea Guimarães, Joana Lemos, Manuel C. |
author_facet | Almeida, Joana T. Rodrigues, Dircea Guimarães, Joana Lemos, Manuel C. |
author_sort | Almeida, Joana T. |
collection | PubMed |
description | Vitamin D has immunomodulatory effects, and its deficiency has been implicated in the autoimmune process of type 1 diabetes. Serum vitamin D levels are influenced by variants in genes involved in the synthesis, transport, hydroxylation and degradation of vitamin D. The aim of this study was to assess if single nucleotide polymorphisms (SNPs) at the DHCR7 (rs12785878), GC (rs2282679), CYP2R1 (rs2060793) and CYP24A1 (rs6013897) loci are associated with type 1 diabetes in the Portuguese population. Genotype and allele frequencies were determined in 350 cases of type 1 diabetes and in 490 controls. The frequency of each SNP alone was not significantly different between patients and controls. However, the combined analysis of the four SNPs showed that minor alleles of these variants clustered more frequently in patients. The proportion of individuals with three or more minor alleles was significantly higher in patients than in controls (56.3% vs. 48.5; odds ratio (OR) 1.37; 95% confidence interval (CI) 1.04–1.81; p-value 0.027). These results suggest a cumulative effect of SNPs at the DHCR7, GC, CYP2R1 and CYP24A1 loci on the susceptibility to type 1 diabetes, due to the roles of these genes in the vitamin D metabolic pathway. |
format | Online Article Text |
id | pubmed-7465037 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74650372020-09-04 Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study Almeida, Joana T. Rodrigues, Dircea Guimarães, Joana Lemos, Manuel C. Genes (Basel) Communication Vitamin D has immunomodulatory effects, and its deficiency has been implicated in the autoimmune process of type 1 diabetes. Serum vitamin D levels are influenced by variants in genes involved in the synthesis, transport, hydroxylation and degradation of vitamin D. The aim of this study was to assess if single nucleotide polymorphisms (SNPs) at the DHCR7 (rs12785878), GC (rs2282679), CYP2R1 (rs2060793) and CYP24A1 (rs6013897) loci are associated with type 1 diabetes in the Portuguese population. Genotype and allele frequencies were determined in 350 cases of type 1 diabetes and in 490 controls. The frequency of each SNP alone was not significantly different between patients and controls. However, the combined analysis of the four SNPs showed that minor alleles of these variants clustered more frequently in patients. The proportion of individuals with three or more minor alleles was significantly higher in patients than in controls (56.3% vs. 48.5; odds ratio (OR) 1.37; 95% confidence interval (CI) 1.04–1.81; p-value 0.027). These results suggest a cumulative effect of SNPs at the DHCR7, GC, CYP2R1 and CYP24A1 loci on the susceptibility to type 1 diabetes, due to the roles of these genes in the vitamin D metabolic pathway. MDPI 2020-08-05 /pmc/articles/PMC7465037/ /pubmed/32764491 http://dx.doi.org/10.3390/genes11080897 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Communication Almeida, Joana T. Rodrigues, Dircea Guimarães, Joana Lemos, Manuel C. Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title_full | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title_fullStr | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title_full_unstemmed | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title_short | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case–Control Association Study |
title_sort | vitamin d pathway genetic variation and type 1 diabetes: a case–control association study |
topic | Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7465037/ https://www.ncbi.nlm.nih.gov/pubmed/32764491 http://dx.doi.org/10.3390/genes11080897 |
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