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. 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). 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%. 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.

中文翻译：

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VDR和CYP2R1的遗传变异独立于血清维生素D浓度影响BMI。

维生素D的代谢和肥胖症已通过多项研究进行了关联，但是这种关联的原因尚不清楚。我们的目标是调查匈牙利成年人的代表性和随机样本中维生素D代谢关键酶的遗传变异与体重指数之间的潜在相关性。为了减少环境并最大化任何相关的遗传效应，在冬季结束时共研究了462个维生素D严重缺乏的个体。此外，还排除了生活方式因素已知会影响维生素D动态平衡的参与者。我们在五个编码维生素D代谢关键蛋白质的基因（NADSYN1，GC，CYP24A1，CYP2R1，VDR）中选择了23个靶SNP。2个遗传多态性的变异；rs2853564（VDR）和rs11023374（CYP2R1）与参与者的BMI显着相关。这些协会幸免于对总，游离或生物活性25（OH）维生素D水平进行的进一步调整，尽管这2种SNPS解释的BMI异质性差异仅为3.2％。我们的结果显示了维生素D和BMI遗传之间关系的两个新例子，突出了维生素D激素在肥胖症生理中的潜在作用。