Laboratory of Human and Medical Genetics, Federal University of Para, Belem 66075-110, PA, Brazil.
Endocrinology Research Center, Joao de Barros Barreto University Hospital, Federal University of Para, Belem 66075-110, PA, Brazil.
Nutrients. 2022 Feb 27;14(5):1010. doi: 10.3390/nu14051010.
Vitamin D has been considered a strong contributing factor to type 1 diabetes mellitus (T1DM). Many studies have investigated polymorphisms in the gene in association with T1DM in different populations, but there are still conflicting findings. This study aimed to evaluate the association of four variants in the gene (rs7975232, rs1544410, rs731236, and rs2228570) with T1DM risk and vitamin D levels within a population from North Region, Brazil, as well as the influence of genomic ancestry on T1DM. A total of 65 T1DM patients and 83 non-T1DM patients were enrolled in this study. gene polymorphisms were assessed using Sanger sequencing analysis. Genomic ancestry was analyzed using a set of 61 ancestry-informative markers. T1DM patients showed higher European genomic contribution and lower Native American genomic contribution when compared to non-T1DM patients. T1DM patients with AA genotype in rs1544410 or CC genotype in rs731236 had significantly lower 25(OH)D levels compared to the other two genotypes ( = 0.013 and = 0.02, respectively), while T1DM with TT genotype in rs2228570 had higher 25(OH)D levels compared to CC + TC in the same polymorphism ( = 0.011). Our findings suggest that the association between 25(OH)D and T1DM may be modified by variants, possibly influencing the development of this autoimmune disease.
维生素 D 被认为是 1 型糖尿病 (T1DM) 的一个重要致病因素。许多研究已经调查了不同人群中 基因的多态性与 T1DM 的关系，但仍存在相互矛盾的发现。本研究旨在评估巴西北部人群中 基因的四个变体 (rs7975232、rs1544410、rs731236 和 rs2228570) 与 T1DM 风险和维生素 D 水平的关联，以及基因组祖先对 T1DM 的影响。本研究共纳入 65 例 T1DM 患者和 83 例非 T1DM 患者。采用 Sanger 测序分析评估 基因多态性。使用一组 61 个与祖先相关的标记物分析基因组祖先。与非 T1DM 患者相比，T1DM 患者的欧洲基因组贡献更高，而美洲原住民基因组贡献更低。与其他两种基因型相比，rs1544410 的 AA 基因型或 rs731236 的 CC 基因型的 T1DM 患者 25(OH)D 水平显著降低（=0.013 和 =0.02，分别），而同一多态性中 rs2228570 的 TT 基因型的 T1DM 患者 25(OH)D 水平高于 CC+TC（=0.011）。我们的研究结果表明，25(OH)D 与 T1DM 之间的关联可能受到 变异的影响，这可能影响自身免疫性疾病的发展。
