绝经后骨质疏松症女性对阿仑膦酸钠治疗反应的骨基因组谱影响：一项回顾性队列研究。
Influence of the Osteogenomic Profile in Response to Alendronate Therapy in Postmenopausal Women with Osteoporosis: A Retrospective Cohort Study.
机构信息
Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44280, Mexico.
Centro de Investigación Multidisciplinario en Salud, Departamento de Ciencias Biomédicas, Centro Universitario de Tonalá, Universidad de Guadalajara, Guadalajara 45425, Mexico.
出版信息
Genes (Basel). 2023 Feb 19;14(2):524. doi: 10.3390/genes14020524.
BACKGROUND
Postmenopausal osteoporosis is a multifactorial disease. Genetic factors play an essential role in contributing to bone mineral density (BMD) variability, which ranges from 60 to 85%. Alendronate is used as the first line of pharmacological treatment for osteoporosis; however, some patients do not respond adequately to therapy with alendronate.
AIM
The aim of this work was to investigate the influence of combinations of potential risk alleles (genetic profiles) associated with response to anti-osteoporotic treatment in postmenopausal women with primary osteoporosis.
METHODS
A total of 82 postmenopausal women with primary osteoporosis receiving alendronate (70 mg administered orally per week) for one year were observed. The bone mineral density (BMD; g/cm) of the femoral neck and lumbar spine was measured. According to BMD change, patients were divided into two groups: responders and non-responders to alendronate therapy. Polymorphic variants in , , , , , and genes were determined and profiles were generated from the combination of risk alleles.
RESULTS
A total of 56 subjects were responders to alendronate and 26 subjects were non-responders. Carriers of the G-C-G-C profile (constructed from rs700518, rs1800795, rs2073618 and rs3102735) were predisposed to response to alendronate treatment ( = 0.001).
CONCLUSIONS
Our findings highlight the importance of the identified profiles for the pharmacogenetics of alendronate therapy in osteoporosis.
背景
绝经后骨质疏松症是一种多因素疾病。遗传因素在导致骨密度（BMD）变异性方面起着至关重要的作用，其范围为 60%至 85%。阿仑膦酸钠被用作骨质疏松症的一线药物治疗方法；然而，一些患者对阿仑膦酸钠治疗的反应并不充分。
目的
本研究旨在探讨与绝经后原发性骨质疏松症患者抗骨质疏松治疗反应相关的潜在风险等位基因（遗传谱）组合对阿仑膦酸钠治疗的影响。
方法
观察了 82 名接受阿仑膦酸钠（每周口服 70mg）治疗一年的绝经后原发性骨质疏松症患者。测量了股骨颈和腰椎的骨密度（BMD；g/cm）。根据 BMD 的变化，患者分为阿仑膦酸钠治疗的应答者和无应答者两组。确定了 、 、 、 、 、 基因中的多态性变异，并从风险等位基因的组合生成了图谱。
结果
共有 56 名患者对阿仑膦酸钠有应答，26 名患者无应答。携带 G-C-G-C 图谱（由 rs700518、rs1800795、rs2073618 和 rs3102735 构建）的患者对阿仑膦酸钠治疗有反应倾向（ = 0.001）。
结论
我们的研究结果强调了所确定的图谱在骨质疏松症中阿仑膦酸钠治疗的药物遗传学中的重要性。
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