Department of Medical Sciences, Endocrinology and Mineral Metabolism, Uppsala University, Uppsala, Sweden.
Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.
J Steroid Biochem Mol Biol. 2019 Mar;187:160-165. doi: 10.1016/j.jsbmb.2018.11.014. Epub 2018 Nov 23.
The vitamin D receptor (VDR) has been proposed as a candidate gene for several musculoskeletal phenotypes. However, previous results on the associations between genetic variants of the VDR with muscle strength and falls have been contradictory. The MrOS Sweden survey, a prospective population-based cohort study of 3014 elderly men (mean age 75 years, range 69-81) offered the opportunity to further investigate these associations. At baseline, data were collected on muscle strength and also the prevalence of falls during the previous 12 months. Genetic association analysis was performed for 7 Single Nucleotide Polymorphisms (SNPs), covering the genetic region surrounding the VDR gene in 2924 men with available samples of DNA. Genetic variations in the VDR were not associated with five different measurements of muscle strength or physical performance (hand grip strength right and left, 6 m walking test (easy and narrow) and timed-stands test). However, one of the 7 SNPs of the gene for the VDR receptor, rs7136534, was associated with prevalence of falls (33.6% of the AA, 14.6% of the AG and 16.5% of the GG allele). In conclusion, VDR genetic variants are not related to muscle strength or physical performance in elderly Swedish men. The role of the rs7136534 SNP for the occurrence of falls is not clear.
维生素 D 受体 (VDR) 被认为是多种肌肉骨骼表型的候选基因。然而,先前关于 VDR 基因遗传变异与肌肉力量和跌倒之间的关联的结果存在矛盾。MrOS 瑞典调查是一项针对 3014 名老年男性(平均年龄 75 岁,范围 69-81 岁)的前瞻性基于人群的队列研究,为进一步研究这些关联提供了机会。在基线时,收集了肌肉力量的数据,以及前 12 个月内跌倒的发生率。在 2924 名有可用 DNA 样本的男性中,对涵盖 VDR 基因周围遗传区域的 7 个单核苷酸多态性 (SNP) 进行了遗传关联分析。VDR 的遗传变异与五种不同的肌肉力量或身体表现测量值(右手和左手握力、6 米步行测试(简单和狭窄)和定时站立测试)无关。然而,VDR 受体基因的 7 个 SNP 之一 rs7136534 与跌倒的发生率有关(AA 基因型的 33.6%、AG 基因型的 14.6%和 GG 基因型的 16.5%)。总之,VDR 基因变异与瑞典老年男性的肌肉力量或身体表现无关。rs7136534 SNP 对跌倒发生的作用尚不清楚。