欧洲祖先群体中多基因分数分布的差异:对乳腺癌风险预测的影响
Kristia Yiangou1, Nasim Mavaddat2, Joe Dennis2
1Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, 2371.
medRxiv : the preprint server for health sciences
|February 27, 2024
概括
乳腺癌的多基因风险评分 (PRS313) 在欧洲人群中存在显著差异. 调整国家特定的PRS分布对于准确预测不同欧洲祖先的风险至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 流行病学 流行病学
- 在瘤学瘤学.
背景情况:
- 多基因风险评分 (PRS) 是预测乳腺癌风险的新兴工具.
- 之前的研究还没有全面评估PRS313在不同欧洲人群中的表现.
- 特定种群的遗传变异可能会影响风险预测模型的准确性.
研究的目的:
- 调查313个变异的多基因风险评分 (PRS313) 在各种欧洲人群中的分布.
- 评估PRS313异质性对不同欧洲国家的乳腺癌风险估计的影响.
- 探索校准PRS313的方法,以提高跨不同祖先的风险预测准确度.
主要方法:
- 利用来自21个国家的乳腺癌协会联盟 (BCAC) 的94,072名没有乳腺癌的欧洲祖先女性的基因型数据.
- 包括来自英国生物库的225,105名女性参与者.
- 分析了PRS313分布,并根据主要成分进行调整,以考虑人口结构.
主要成果:
- 在欧洲国家中观察到平均PRS313的显著差异,欧洲东南部的得分最高,欧洲西北部的得分最低.
- 应用一个一般的欧洲PRS313门导致风险高估在东南和低估在西北欧的个人.
- 对主要成分的调整有效地解释了人口中平均PRS313的异质性.
结论:
- 在欧洲人群中,PRS313表现出相当大的差异,需要对特定人群进行特定的考虑,以准确预测乳腺癌风险.
- 具体国家PRS分布对于校准风险类别和改善PRS在不同欧洲祖先中的临床实用性至关重要.
- 未来的乳腺癌风险预测模型应该包含特定人群的PRS校准,以确保公平而准确的风险评估.
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