将多基因分数置于背景下:交叉因素如何影响相对和绝对遗传风险
medRxiv : the preprint server for health sciences
|June 12, 2025
概括
多基因分数 (PGS) 的准确性因交叉的社会因素而有所不同. 考虑到这些背景,可以改善遗传风险评估,以获得更好的患者护理.
科学领域:
- 遗传学 是一个遗传学.
- 社会学 社会学 社会学
- 公共卫生 公共卫生
背景情况:
- 多基因分数 (PGS) 的临床效用受到祖先差异的影响.
- 社会人口统计学因素也会影响PGS的表现.
- 交叉社会背景对遗传风险的影响还没有得到充分研究.
研究的目的:
- 调查交叉社会人口学背景对遗传风险的影响.
- 分析各种社会交叉点的高PGS个体的疾病概率比率 (OR) 和绝对风险 (AR).
- 评估各种人群中动物保护系统的表现.
主要方法:
- 在106个社会人口因素 (性别,年龄,酒精摄入量,吸烟,收入,贫困) 的双向交叉点上,对高PGS个体的终身疾病OR和AR的分析.
- 评估了七种疾病:心房动,冠状动脉疾病,2型糖尿病,高胆固醇血症,喘,肥胖和严重抑郁症.
- 在英国生物库进行的初级分析 (n=375,054,欧洲血统),在我们所有人 (n=136,029,非洲血统和欧洲血统) 中进行复制.
主要成果:
- 几率比率 (ORs) 在不同环境中显示出显著的差异,在交叉环境中差异更大 (高达56%的变化).
- 在调整为患病率后,绝对风险 (AR) 偏差是适度的,但显示了交叉效应.
- 情境感知PGS提高了准确性,其中示例显示特定交叉组中严重抑郁症的AR估计值较低.
结论:
- 交叉背景显著影响遗传风险效应估计.
- 未来的PGS临床应用可能需要结合上下文效应,以提高准确性和公平性.
- 通过考虑这些社会人口统计学相互作用,可以增强患者特异性遗传风险评估.
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