Department of Chemical Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Department of Chemical Pathology, National Health Laboratory Service, Johannesburg, South Africa.
BMC Endocr Disord. 2022 Jul 17;22(1):182. doi: 10.1186/s12902-022-01097-1.
Vitamin D deficiency and the vitamin D pathway have previously been associated with type 1 diabetes (T1D). The majority of vitamin D is transported through the blood bound to the vitamin D binding protein (VDBP). Two polymorphisms in the VDBP gene (rs4588 and rs7041) result in different VDBP variants and have been associated with T1D, however the results are not consistent. The association of VDBP levels and its polymorphisms with T1D have not been investigated in the black South African population. Therefore, this study aimed to determine whether rs4588, rs7041 or serum VDBP levels were associated with T1D in this population.
Participants with type 1 diabetes and controls were recruited from the greater Johannesburg area, South Africa. Participants were genotyped for rs4588 and rs7041 using PCR-RFLP and serum VDBP levels were determined by ELISA.
There was no difference in VDBP allelic or genotypic frequencies between participants with T1D and controls (rs4588 C allele frequency 0.92 vs. 0.94; p = 0.390 and rs7041 T allele frequency 0.95 vs. 0.95; p = 0.890). In univariate analysis, the rs4588 CC genotype was associated with increased serum VDBP levels, however, this association was lost with multivariate analysis. The VDBP genotypes were not associated with any other study variables. In logistic regression analysis, higher VBDP levels were associated with T1D (OR: (95% CI): 6.58 (1.45-29.9); p = 0.015), and within a linear regression analysis, T1D disease status was found to be associated with 0.044 mg/ml higher VDBP levels (p = 0.028).
These data suggest that serum VDBP levels are positively associated with the presence of T1D in the African population. Whether VDBP lies in the causal pathway or its elevation is an effect of T1D is uncertain and requires further investigation.
维生素 D 缺乏和维生素 D 途径以前与 1 型糖尿病(T1D)有关。大多数维生素 D 通过与维生素 D 结合蛋白(VDBP)结合在血液中运输。VDBP 基因中的两个多态性(rs4588 和 rs7041)导致不同的 VDBP 变体,并与 T1D 相关,但结果并不一致。VDBP 水平及其多态性与 T1D 的关系尚未在南非黑人人群中进行研究。因此,本研究旨在确定 VDBP 水平及其多态性是否与该人群中的 T1D 有关。
从南非约翰内斯堡地区招募了 1 型糖尿病患者和对照者。使用 PCR-RFLP 对参与者进行 rs4588 和 rs7041 基因分型,并通过 ELISA 测定血清 VDBP 水平。
T1D 患者与对照组之间 VDBP 等位基因或基因型频率无差异(rs4588 C 等位基因频率 0.92 对 0.94;p=0.390 和 rs7041 T 等位基因频率 0.95 对 0.95;p=0.890)。在单变量分析中,rs4588 CC 基因型与血清 VDBP 水平升高相关,但在多变量分析中这种相关性消失。VDBP 基因型与任何其他研究变量均无关。在逻辑回归分析中,较高的 VBDP 水平与 T1D 相关(OR:(95%CI):6.58(1.45-29.9);p=0.015),线性回归分析发现 T1D 疾病状态与 VDBP 水平升高 0.044mg/ml 相关(p=0.028)。
这些数据表明,血清 VDBP 水平与非洲人群中 T1D 的存在呈正相关。VDBP 是否处于因果途径中,或者其升高是否是 T1D 的结果尚不确定,需要进一步研究。