Department of Family Medicine, Poznan University of Medical Sciences, Poznań, Poland.
Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
Front Endocrinol (Lausanne). 2023 Jan 13;13:1063762. doi: 10.3389/fendo.2022.1063762. eCollection 2022.
One of the challenges of personalized medicine is a departure from traditional pharmacology toward individualized, genotype-based therapies. Postmenopausal osteoporosis is a prevalent condition requiring intensive treatment, whose effects are measurable only after a long time, and the goal is bone fracture prevention. This study aimed to determine the influence of gene variation on anti-osteoporotic one-year treatment with denosumab in 63 Polish women with postmenopausal osteoporosis.
The correlation between bone mineral density (BMD) of the lumbar vertebral column (L1-L4) and femoral neck, and genotype distributions for the , , , and variants of the gene was analyzed. Bone fractures during denosumab therapy were also investigated.
In the case of the polymorphism, female patients with BB and Bb genotypes had statistically significantly higher values of BMD and T-score/Z-score indicators, which persisted after a year of denosumab treatment. Our results indicated that the polymorphism contributes to better bone status, and, consequently, to more efficient biological therapy. The study did not reveal significant differences between changes (delta) in BMD and genotypes for the analyzed gene . In the entire study group, one bone fracture was observed in one patient throughout the yearlong period of denosumab therapy.
BB and Bb genotypes of the polymorphism of the gene determine higher DXA parameter values both before and after one-year denosumab therapy in postmenopausal women with osteoporosis.
个性化医学面临的挑战之一是，从传统药理学向个体化、基于基因型的治疗方法转变。绝经后骨质疏松症是一种常见疾病，需要强化治疗，其效果只有在很长时间后才能测量，治疗目标是预防骨折。本研究旨在确定基因变异对 63 名波兰绝经后骨质疏松症女性接受 denosumab 一年抗骨质疏松治疗的影响。
分析了腰椎（L1-L4）和股骨颈的骨矿物质密度（BMD）与 基因的 、 、 、 变体的基因型分布之间的相关性。还研究了 denosumab 治疗期间的骨折情况。
在 多态性方面，BB 和 Bb 基因型的女性患者的 BMD 和 T 评分/Z 评分指标具有统计学意义的更高值，这些值在接受 denosumab 治疗一年后仍然存在。我们的结果表明， 多态性有助于改善骨骼状况，从而使生物治疗更有效。研究未发现分析的 基因 变化（delta）与基因型之间存在显著差异。在整个研究组中，在接受 denosumab 治疗的一年期间，有一名患者发生了一处骨折。
基因的 多态性 BB 和 Bb 基因型在绝经后骨质疏松症女性接受 denosumab 治疗一年前后均决定了更高的 DXA 参数值。
