Laursen Julie H, Søndergaard Helle Bach, Albrechtsen Anders, Frikke-Schmidt Ruth, Koch-Henriksen Nils, Soelberg Sørensen Per, Sellebjerg Finn, Oturai Annette
Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Danish Multiple Sclerosis Center, Denmark
Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Danish Multiple Sclerosis Center, Denmark.
Mult Scler. 2015 Oct;21(11):1414-22. doi: 10.1177/1352458514563590. Epub 2014 Dec 22.
Evidence is accumulating supporting a beneficial effect of vitamin D in multiple sclerosis (MS). Genome-wide association studies (GWAS) have shown significant associations between 25-hydroxyvitamin D (25(OH)D) and single nucleotide polymorphisms (SNPs) in key genes in the vitamin D metabolism.
To examine the association between 25(OH)D and six GWAS SNPs and environmental factors in 1497 MS patients.
Blood samples and lifestyle questionnaires were collected between 2009 and 2012. Genotyping of GC-, CYP2R1- and NADSYN1-SNPs was performed by TaqMan allelic discrimination (Life Technologies).
We found significant associations between 25(OH)D and SNPs in GC (rs7041, p = 0.01 and rs2282679, p = 0.03) and CYP2R1 (rs10741657, p =1.8 × 10(-4)). Season of blood sampling (p = 2.8 × 10(-31)), sex (p = 1.9 × 10(-5)), BMI (p = 2.3 × 10(-5)), vitamin supplements (p = 7.0 × 10(-22)), and fish intake (p = 0.02) also had significant effects on 25(OH)D.
In this cross-sectional study, we found significant effects of environmental factors and SNPs in GC and CYP2R1 on 25(OH)D in MS patients. Since 25(OH)D might have protective effects in MS, and vitamin D supply is a modifiable factor, it may be important to include this in the MS treatment regimen.
越来越多的证据支持维生素D对多发性硬化症（MS）具有有益作用。全基因组关联研究（GWAS）表明，25-羟基维生素D（25(OH)D）与维生素D代谢关键基因中的单核苷酸多态性（SNP）之间存在显著关联。
研究1497例MS患者中25(OH)D与6个GWAS SNP及环境因素之间的关联。
在2009年至2012年期间收集血样和生活方式问卷。采用TaqMan等位基因鉴别法（Life Technologies公司）对GC、CYP2R1和NADSYN1基因的SNP进行基因分型。
我们发现25(OH)D与GC基因中的SNP（rs7041，p = 0.01；rs2282679，p = 0.03）以及CYP2R1基因中的SNP（rs10741657，p = 1.8×10⁻⁴）之间存在显著关联。采血季节（p = 2.8×10⁻³¹）、性别（p = 1.9×10⁻⁵）、体重指数（p = 2.3×10⁻⁵）、维生素补充剂（p = 7.0×10⁻²²）和鱼类摄入量（p = 0.02）对25(OH)D也有显著影响。
在这项横断面研究中，我们发现环境因素以及GC和CYP2R1基因中的SNP对MS患者的25(OH)D有显著影响。由于25(OH)D可能对MS具有保护作用，且维生素D的供应是一个可调节的因素，因此将其纳入MS治疗方案可能很重要。
