Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Almeida, Joana T., Rodrigues, Dircea, Guimarães, Joana, Lemos, Manuel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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
_version_ 1783577499510243328
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
work_keys_str_mv AT almeidajoanat vitamindpathwaygeneticvariationandtype1diabetesacasecontrolassociationstudy
AT rodriguesdircea vitamindpathwaygeneticvariationandtype1diabetesacasecontrolassociationstudy
AT guimaraesjoana vitamindpathwaygeneticvariationandtype1diabetesacasecontrolassociationstudy
AT lemosmanuelc vitamindpathwaygeneticvariationandtype1diabetesacasecontrolassociationstudy