腿部部宽度遗传风险评分是部骨折的新型独立风险因素
Jonathan H Tobias1,2, Maria Nethander3,4, Benjamin G Faber1,2
1Musculoskeletal Research Unit, Translational Health Sciences, Southmead Hospital, University of Bristol, Bristol BS10 5NB, United Kingdom.
概括
通过DXA扫描测量的股骨部宽度 (FNW) 提供了一种预测骨折的新方法. 这项研究表明,FNW是关节骨折的因果风险因素,独立于骨矿物质密度,改善骨折预测模型.
科学领域:
- 整形外科和创伤学
- 遗传学和基因组学 在
- 放射学和成像学 放射学和成像学
背景情况:
- 来自DXA扫描的股骨部宽度 (FNW) 可能有助于预测部骨折.
- 调查FNW与关节骨折风险的独立关系,与大腿骨矿物质密度 (FN-BMD) 独立,至关重要.
研究的目的:
- 为了确定FNW是否与关节骨折风险因果相关,独立于FN-BMD.
- 探索FNW和FN-BMD的独特遗传基础.
主要方法:
- 利用来自英国生物银行 (n=38,150) 的DXA扫描来得出FNW.
- 针对FNW和FN-BMD进行了全基因组关联研究 (GWAS).
- 使用多变量门德尔随机化和遗传风险评分 (GRS) 来评估与关节骨折风险的因果关系.
主要成果:
- GWAS确定了71个与软骨和骨发育基因相关的FNWSNP,与FN-BMDSNP不同.
- 基因预测较高的FNW增加了关节骨折风险 (OR 1.53) 和大腿骨骨折风险 (OR 1.58).
- FNW GRS与发生关节骨折风险增加有关 (HR 1.08),而FN-BMD GRS与风险降低有关.
结论:
- 对于FNW和FN-BMD的遗传基础有很大的不同.
- 由DXA衍生的FNW是关节骨折的因果风险因素,独立于FN-BMD.
- 在FN-BMD之外,FNW测量或FNW GRS为部骨折预测提供了有价值的信息.
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