Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study
| العنوان: | Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study |
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| المؤلفون: | Joana T Almeida, Manuel C. Lemos, Joana Guimarães, Dircea Rodrigues |
| المصدر: | Genes Genes, Vol 11, Iss 897, p 897 (2020) |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Vitamin, Adult, Male, medicine.medical_specialty, Oxidoreductases Acting on CH-CH Group Donors, lcsh:QH426-470, Adolescent, type 1 diabetes, SNP, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, single nucleotide polymorphism, Internal medicine, Genotype, Genetic variation, medicine, Vitamin D and neurology, Humans, genetics, Allele, Vitamin D, Child, Cytochrome P450 Family 2, Vitamin D3 24-Hydroxylase, Allele frequency, Genetics (clinical), Type 1 diabetes, Vitamin D-Binding Protein, Communication, autoimmune, medicine.disease, lcsh:Genetics, Endocrinology, Diabetes Mellitus, Type 1, chemistry, Cholestanetriol 26-Monooxygenase, Female |
| الوصف: | 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. |
| تدمد: | 2073-4425 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d932899406db67727554f289903ce09bTest https://pubmed.ncbi.nlm.nih.gov/32764491Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d932899406db67727554f289903ce09b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
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