维生素 D 受体（VDR）和细胞色素 P450 2R1（CYP2R1）的遗传变异独立于血清维生素 D 浓度影响 BMI。
Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations.
机构信息
Department of Internal Medicine and Oncology, Semmelweis University Faculty of Medicine, 1098 Korányi S. u. 2/a, Budapest, Hungary.
Department of Pulmonology, Semmelweis University Faculty of Medicine, Budapest, Hungary.
出版信息
BMC Med Genet. 2020 Jun 13;21(1):129. doi: 10.1186/s12881-020-01065-3.
BACKGROUND
Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key enzymes of vitamin D metabolism and the body mass index on a representative and random sample of Hungarian adults.
METHODS
Altogether 462 severely vitamin D deficient individuals were studied at the end of winter in order to decrease environmental and maximize any relevant genetic effect. Furthermore, participants with lifestyle factors known to affect vitamin D homeostasis were also excluded. We selected 23 target SNPs in five genes that encode key proteins of vitamin D metabolism (NADSYN1, GC, CYP24A1, CYP2R1, VDR).
RESULTS
Variants in 2 genetic polymorphisms; rs2853564 (VDR) and rs11023374 (CYP2R1) showed a significant association with participants' BMI. These associations survived further adjustment for total-, free-, or bioactive-25(OH) vitamin D levels, although the variance explained by these 2 SNPS in BMI heterogeneity was only 3.2%.
CONCLUSION
Our results show two novel examples of the relationship between genetics of vitamin D and BMI, highlighting the potential role of vitamin D hormone in the physiology of obesity.
背景
多项研究表明维生素 D 代谢与肥胖之间存在关联，但这种关联的原因尚不清楚。我们的目的是在匈牙利成年人的代表性随机样本中研究维生素 D 代谢关键酶的遗传变异与体重指数之间的潜在相关性。
方法
在冬季末期，对 462 名严重维生素 D 缺乏症患者进行了研究，以减少环境因素并最大限度地发挥任何相关的遗传效应。此外，还排除了已知会影响维生素 D 体内平衡的生活方式因素的参与者。我们选择了编码维生素 D 代谢关键蛋白的五个基因中的 23 个目标 SNP（NADSYN1、GC、CYP24A1、CYP2R1、VDR）。
结果
两种遗传多态性的变异；rs2853564（VDR）和 rs11023374（CYP2R1）与参与者的 BMI 呈显著相关。尽管这两个 SNP 对 BMI 异质性的解释方差仅为 3.2%，但这些关联在进一步调整总、游离或生物活性 25（OH）维生素 D 水平后仍然存在。
结论
我们的研究结果提供了维生素 D 遗传学与 BMI 之间关系的两个新例子，突出了维生素 D 激素在肥胖生理学中的潜在作用。
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