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识别罕见的遗传决定因素,以改善对骨矿物质密度和骨折风险的多基因风险预测

Tianyuan Lu^1,2, Vincenzo Forgetta³, Sirui Zhou^1,4,5

¹Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

|October 13, 2023

概括

罕见的遗传变异可能有助于预测携带它们的个体的骨折风险,但综合遗传风险评分 (ggSOS) 显示,与骨矿物质密度的传统多基因风险评分相比,仅有微小的改善.

科学领域:

遗传学是一个遗传学.
骨生物学骨生物学骨生物学
骨质疏松症研究骨质疏松症研究

背景情况:

骨质疏松症和骨折对老年人群构成重大健康风险.
骨矿物密度 (BMD) 的多基因风险评分 (PRS) 显示出临床前景.
罕见遗传变异对骨损伤和骨折风险预测的贡献在很大程度上尚未评估.

研究的目的:

评估将罕见遗传决定因素纳入骨质疏松症风险预测模型的临床效用.
开发和评估一种结合常见和罕见变异数据的新型遗传风险评分 (ggSOS).
为了研究gggSOS在不同祖先群体中的预测性能.

主要方法:

利用了来自436,824名英国生物库参与者的全外因子测序数据.
开发了一种基于常见变体的PRS用于部超声波音速 (SOS).
进行基因负担测试以识别与骨髓疾病相关的罕见变异,通过将这些罕见变异集成到PRS中来创建ggSOS.

主要成果:

确定了12个基因 (例如,LRP5,SOST) 携带与SOS相关的罕见变异.
在这些罕见变异的携带者中,ggSOS与单独的PRS相比,在预测主要骨质疏松性骨折风险方面略有改善 (C指数0.644比0.641).
ggSOS在非欧洲祖先种群中没有显著改善预测性能.

结论:

模拟罕见的遗传决定因素可以帮助多基因预测骨折风险,特别是在具有影响力的罕见变异的个体.
与现有的PRS相比,ggSOS在人口层面的风险查中的临床实用性没有得到实质性的改善.
需要进一步的研究来提高骨质疏松症遗传风险评分的预测准确性和临床适用性.

关键词:

骨矿物质密度骨矿物质密度布尔登测试是什么意思断裂风险预测的方法一个遗传的祖先.多基因风险得分 (Polygenic Risk Score) 是指一个多基因风险的得分.兰克尔 (Rankl) 是一个名字.这是一种罕见的变体.在WNT/ WNT/ WNT/ WNT/ WNT/ WNT/ WNT/ WNT/ WNT.

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