Kotrych Katarzyna, Wojtuń Maciej, Górska Aleksandra, Bogacz Anna, Soczawa Michał, Uzar Izabela, Gorący Jarosław, Brązert Maciej, Czerny Bogusław, Kamiński Adam
Department of General and Dental Radiology, Pomeranian Medical University in Szczecin, al. Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland.
Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibres and Medicinal Plants, Kolejowa 2, 62-064 Plewiska, Poland.
Int J Mol Sci. 2025 Sep 12;26(18):8894. doi: 10.3390/ijms26188894.
Osteoporosis is a chronic metabolic disease characterised by reduced bone mineral density (BMD) and increased susceptibility to fractures. Its development is influenced by both environmental and genetic factors that regulate bone metabolism. Among the genes involved in bone metabolism, and (OPG) are particularly important. The gene encodes the alpha-1 chain of type I collagen, a major component of the bone matrix, and plays a key role in maintaining bone mechanical strength. The gene encodes osteoprotegerin (OPG), a protein that inhibits bone resorption by binding the RANKL ligand and blocking osteoclast activation. Therefore, the aim of this study was to determine the association between the rs1107946 and rs1800012 polymorphisms of the gene and the rs2073617 polymorphism of the (OPG) gene and bone mineral density in postmenopausal women. The study included 590 postmenopausal women: 350 healthy controls, 105 with osteopenia, and 135 with osteoporosis. Genotyping was performed using real-time PCR and LightSNiP probes. Associations between genetic variables and BMD were assessed, taking into account environmental factors (BMI, smoking). The presence of the T allele of the rs1800012 variant was initially associated with lower BMD and an increased risk of osteopenia, but this association lost significance after adjustment for BMI and smoking. For rs1107946 and rs2073617,no statistically significant associations were observed. These findings suggest that the studied SNPs have, at most, modest effects on BMD, with environmental influences playing a stronger role. Further research in larger and more diverse cohorts, including FRAX-based risk estimation, is warranted.
骨质疏松症是一种慢性代谢性疾病，其特征是骨矿物质密度（BMD）降低以及骨折易感性增加。其发展受到调节骨代谢的环境和遗传因素的影响。在参与骨代谢的基因中， 和 （骨保护素，OPG）尤为重要。 基因编码I型胶原蛋白的α-1链，这是骨基质的主要成分，在维持骨机械强度方面起关键作用。 基因编码骨保护素（OPG），一种通过结合RANKL配体并阻断破骨细胞活化来抑制骨吸收的蛋白质。因此，本研究的目的是确定 基因的rs1107946和rs1800012多态性与 （OPG）基因的rs2073617多态性与绝经后女性骨矿物质密度之间的关联。该研究纳入了590名绝经后女性：350名健康对照者、105名骨量减少者和135名骨质疏松症患者。使用实时PCR和LightSNiP探针进行基因分型。在考虑环境因素（BMI、吸烟）的情况下，评估基因变量与BMD之间的关联。rs1800012变体的T等位基因的存在最初与较低的BMD和骨量减少风险增加相关，但在对BMI和吸烟进行调整后，这种关联失去了显著性。对于rs1107946和rs2073617，未观察到统计学上的显著关联。这些发现表明，所研究的单核苷酸多态性（SNP）对BMD的影响至多是适度的，环境影响起着更强的作用。有必要在更大且更多样化的队列中进行进一步研究，包括基于FRAX的风险评估。
