1型糖尿病与维生素D代谢基因的遗传变异之间无关联：一项丹麦研究。
No association between type 1 diabetes and genetic variation in vitamin D metabolism genes: a Danish study.
作者信息
Thorsen Steffen U, Mortensen Henrik B, Carstensen Bendix, Fenger Mogens, Thuesen Betina H, Husemoen Lotte, Bergholdt Regine, Brorsson Caroline, Pociot Flemming, Linneberg Allan, Svensson Jannet
机构信息
Herlev University Hospital, Herlev, Denmark.
出版信息
Pediatr Diabetes. 2014 Sep;15(6):416-21. doi: 10.1111/pedi.12105. Epub 2013 Dec 10.
BACKGROUND
Vitamin D, certain single nucleotide polymorphisms (SNPs) in the vitamin D-receptor (VDR) gene and vitamin D metabolism genes have been associated with type 1 diabetes (T1D).
OBJECTIVE
We wanted to examine if the most widely studied SNPs in genes important for production, transport, and action of vitamin D were associated with T1D or to circulating levels of vitamin D 25-hydroxyvitamin D [25(OH)D] in a juvenile Danish population.
METHODS
We genotyped eight SNPs in five vitamin D metabolism genes in 1467 trios. 25(OH)D status were analyzed in 1803 children (907 patients and 896 siblings).
RESULTS
We did not demonstrate association with T1D for SNPs in the following genes: CYP27B1, VDR, GC, CYP2R1, DHCR7, and CYP24A1. Though, variants in the GC gene were significantly associated with 25(OH)D levels in the joint model.
CONCLUSION
Some of the most examined SNPs in vitamin D metabolism genes were not confirmed to be associated with T1D, though 25(OH) levels were associated with variants in the GC gene.
背景
维生素D、维生素D受体（VDR）基因及维生素D代谢基因中的某些单核苷酸多态性（SNP）与1型糖尿病（T1D）有关。
目的
我们想研究在丹麦青少年人群中，维生素D生成、转运及作用相关基因中研究最广泛的SNP是否与T1D或循环维生素D水平（25-羟维生素D [25(OH)D]）有关。
方法
我们对1467个三联体中五个维生素D代谢基因的八个SNP进行了基因分型。对1803名儿童（907例患者和896名同胞）的25(OH)D状态进行了分析。
结果
我们未证实以下基因中的SNP与T1D有关：CYP27B1、VDR、GC、CYP2R1、DHCR7和CYP24A1。不过，在联合模型中，GC基因的变异与25(OH)D水平显著相关。
结论
维生素D代谢基因中一些研究最多的SNP未被证实与T1D有关，不过25(OH)水平与GC基因的变异有关。
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