Endocrinology Research Centre, Dmitriya Ulianova Street, 11, 117036 Moscow, Russia.
Internal Medicine & Clinical Psychology Department, Bashkir State Medical University, 450008 Ufa, Russia.
Int J Mol Sci. 2024 Jul 3;25(13):7312. doi: 10.3390/ijms25137312.
The search for the molecular markers of osteoporosis (OP), based on the analysis of differential deoxyribonucleic acid (DNA) methylation in bone cells and peripheral blood cells, is promising for developments in the field of the early diagnosis and targeted therapy of the disease. The Runt-related transcription factor 2 () gene is one of the key genes of bone metabolism, which is of interest in the search for epigenetic signatures and aberrations associated with the risk of developing OP. Based on pyrosequencing, the analysis of the methylation profile from a pool of peripheral blood cells in men and women over 50 years of age of Russian ethnicity from the Volga-Ural region of Russia was carried out. The level of DNA methylation in three CpG sites of the gene was assessed and statistically significant hypomethylation was revealed in all three studied CpG sites in men (U = 746.5, = 0.004; U = 784, = 0.01; U = 788.5, = 0.01, respectively) and in one CpG site in women (U = 537, = 0.03) with primary OP compared with control. In the general sample, associations were preserved for the first CpG site (U = 2561, = 0.0001766). The results were obtained for the first time and indicate the existence of potentially new epigenetic signatures of in individuals with OP.
基于对骨细胞和外周血细胞中差异脱氧核糖核酸（DNA）甲基化的分析，寻找骨质疏松症（OP）的分子标志物，这对于疾病的早期诊断和靶向治疗领域的发展是有希望的。Runt 相关转录因子 2（）基因是骨代谢的关键基因之一，在寻找与 OP 发病风险相关的表观遗传特征和异常方面引起了关注。基于焦磷酸测序，对来自俄罗斯伏尔加-乌拉尔地区的 50 岁以上俄罗斯男性和女性外周血细胞池的甲基化谱进行了分析。评估了 基因三个 CpG 位点的 DNA 甲基化水平，在男性的所有三个研究 CpG 位点（U = 746.5， = 0.004；U = 784， = 0.01；U = 788.5， = 0.01，分别）和女性的一个 CpG 位点（U = 537， = 0.03）中发现与原发性 OP 相比，所有三个 CpG 位点的 DNA 甲基化水平均显著降低。在一般样本中，与第一个 CpG 位点（U = 2561， = 0.0001766）保持关联。这些结果是首次获得的，表明存在 OP 个体中潜在的新 基因的表观遗传特征。
