Wu Ju, Shang De-Peng, Yang Sheng, Fu Da-Peng, Ling Hao-Yi, Hou Shuang-Shuang, Lu Jian-Min
Department of Orthopaedics, Affiliated Zhongshan Hospital of Dalian University, Dalian, Liaoning 116001, P.R. China.
Biomed Rep. 2016 Aug;5(2):233-236. doi: 10.3892/br.2016.697. Epub 2016 May 31.
The influence of the vitamin D receptor () gene for the risk of osteoporosis remains to be elucidated. The aim of the present study was to understand the distribution of various single-nucleotide polymorphisms (SNPs) within the gene and its association with the risk of osteoporosis. In total, 378 subjects without a genetic relationship were recruited to the study between January 2013 and July 2015. The subjects were divided into three groups, which were the normal (n=234), osteoporosis (n=65) and osteoporosis with osteoporotic fracture (n=79) groups. Three pertinent SNPs of the gene rs17879735 (I, Allele A/a, SNP C>A) were examined with polymerase chain reaction-restriction fragment length polymorphism. The bone mineral density (BMD) of the lumbar spine (L2-L4), femoral neck, Ward's and Tro was measured using dual-energy X-ray absorptiometry. The distributions of genotype frequencies aa, AA and Aa were 48.68, 42.86 and 8.46%, separately. Following analysis of each site, BMD, body mass index (BMI) and age, BMD for each site was negatively correlated with age (P<0.01) and positively correlated with BMI (P<0.01). Correction analysis revealed that there were significant differences in the Ward's triangle BMD among each genotype (P<0.05), in which the aa genotype exhibited the lower BMD (P<0.05). No significant difference was identified among the different genotypes in the occurrence of osteoporosis with osteoporotic fracture (P>0.05). In conclusion, these indicated that the gene I polymorphisms had an important role in the osteoporosis risk.
维生素D受体（VDR）基因对骨质疏松症风险的影响尚待阐明。本研究的目的是了解VDR基因内各种单核苷酸多态性（SNP）的分布及其与骨质疏松症风险的关联。2013年1月至2015年7月期间，共招募了378名无亲缘关系的受试者参与本研究。受试者被分为三组，即正常组（n = 234）、骨质疏松组（n = 65）和骨质疏松伴骨质疏松性骨折组（n = 79）。采用聚合酶链反应-限制性片段长度多态性方法检测VDR基因的三个相关SNP rs17879735（I，等位基因A/a，SNP C>A）。使用双能X线吸收法测量腰椎（L2-L4）、股骨颈、Ward三角和大转子的骨密度（BMD）。基因型频率aa、AA和Aa的分布分别为48.68%、42.86%和8.46%。在分析每个部位的BMD、体重指数（BMI）和年龄后，各部位的BMD与年龄呈负相关（P<0.01），与BMI呈正相关（P<0.01）。校正分析显示，各基因型之间Ward三角的BMD存在显著差异（P<0.05），其中aa基因型的BMD较低（P<0.05）。不同基因型在骨质疏松伴骨质疏松性骨折的发生率上未发现显著差异（P>0.05）。总之，这些结果表明VDR基因I多态性在骨质疏松症风险中起重要作用。
