Department of Cellular Biology, Genetics, Histology and Pharmacology, Faculty of Health Sciences, Campus of Soria, University of Valladolid, 42003 Soria, Spain.
Neurobiology Research Group, Faculty of Medicine, University of Valladolid, 47005 Valladolid, Spain.
Int J Mol Sci. 2022 Oct 6;23(19):11846. doi: 10.3390/ijms231911846.
Sarcopenia (Sp) is the loss of skeletal muscle mass associated with aging that results in an involution of muscle function and strength. Vitamin D deficiency is a common health problem worldwide, especially among the elderly, and hypovitaminosis D leads to musculoskeletal disorders. The aim of this study was to evaluate the impact and presence of a possible linkage between Single Nucleotide Polymorphisms (SNPs) CYP2R1 (rs10741657), GC (rs2282679), and VDR (rs2228570), serum 25-OH/D concentrations and the link with the degree of sarcopenia in 19 institutionalized elderly men not supplemented with vitamin D. Levels of 25-OH vitamin D were quantified with a commercial enzyme-linked immunosorbent assay kit and 3 SNPs were genotyped with KASPar assays. Significant differences in 25-OH/D concentration were determined between the bi-allelic combinations of rs228679 and rs228570. We detected statistically significant weak positive correlations between the AA (rs10741657 and rs228570) and TT (rs228679) and alleles and 25-OH/D and the probability of having higher 25-OH/D concentrations was 2- to 3-fold higher. However, the GG alleles of the 3 SNPs showed that the probability of having optimal 25-0H/D concentrations decreases by 32% for rs10741657, 38% for rs228679, and 74% for rs228570, showing a strong negative correlation between the degree of sarcopenia and 25-OH/D levels. Allelic variations in CYP2R1 (rs10741657), GC (rs2282679), and VDR (rs10741657) affect vitamin D levels and decisively influence the degree of sarcopenia in institutionalized elderly people.
肌肉减少症(Sp)是与衰老相关的骨骼肌质量损失,导致肌肉功能和力量的退化。维生素 D 缺乏是全世界常见的健康问题,尤其是老年人,而维生素 D 缺乏会导致肌肉骨骼疾病。本研究旨在评估 CYP2R1(rs10741657)、GC(rs2282679)和 VDR(rs2228570)单核苷酸多态性(SNP)、血清 25-羟维生素 D 浓度与肌肉减少症之间的可能关联及其对 19 名未补充维生素 D 的机构化老年男性的影响。采用商业酶联免疫吸附试验试剂盒定量检测 25-羟维生素 D 水平,采用 KASPar 法检测 3 个 SNP 的基因型。rs228679 和 rs228570 双等位基因组合之间的 25-OH/D 浓度存在显著差异。我们检测到 rs10741657 和 rs228570 的 AA(rs10741657 和 rs228570)和 TT(rs228679)等位基因与 25-OH/D 之间存在统计学上显著的弱正相关,且具有较高 25-OH/D 浓度的概率增加 2-3 倍。然而,3 个 SNP 的 GG 等位基因表明,具有最佳 25-0H/D 浓度的概率 rs10741657 降低 32%,rs228679 降低 38%,rs228570 降低 74%,肌肉减少症的严重程度与 25-OH/D 水平之间存在强烈的负相关。CYP2R1(rs10741657)、GC(rs2282679)和 VDR(rs10741657)的等位基因变异影响维生素 D 水平,并对机构化老年人的肌肉减少症程度产生决定性影响。