多基因风险评分可以帮助解释世界各地的疾病流行率差异吗? 全球范围的调查
Pritesh R Jain1, Myson Burch2, Melanie Martinez1
1Department of Biological Sciences, Purdue University, West Lafayette, IN, USA.
BMC genomic data
|November 21, 2023
概括
来自全基因组关联研究 (GWAS) 的遗传风险评分 (PRS) 显示了全球人口中复杂疾病患病率的不同相关性. 这项研究揭示了PRS在了解疾病责任方面的潜力,特别是在多发性硬化症等疾病中.
科学领域:
- 遗传学和人口健康 遗传学和人口健康
- 复杂疾病流行病学 复杂疾病流行病学
背景情况:
- 复杂的疾病源于遗传,环境和生活方式的相互作用,呈现出特定人口的患病率.
- 通过全基因组关联研究 (GWAS) 确定的遗传风险与不同人群中的疾病患病率之间的相关性仍未得到充分研究.
研究的目的:
- 系统地调查来自GWAS的多基因风险评分 (PRS) 与全球14种复杂疾病的流行之间的相关性.
- 根据当前的GWAS数据,识别出对特定复杂疾病具有更高遗传责任的种群.
主要方法:
- 对14种复杂疾病的多基因风险评分 (PRS) 的分析.
- 在欧洲和全球范围内对PRS和疾病患病率之间的相关性分析.
- 基于祖先的遗传风险变异的检查.
主要成果:
- 观察到基于GWAS的遗传风险与祖先相关的显著变化.
- 在四种疾病中发现了PRS和欧洲疾病患病率之间的显著相关性.
- 对八种疾病的全球疾病流行率和PRS之间确定了显著的相关性,多发性硬化症显示了最高的相关性.
结论:
- 目前基于GWAS的PRS可以帮助理解复杂疾病流行率在人口层面的差异,并识别具有更高遗传风险的人群.
- 该研究强调了PRS对某些疾病的局限性和潜在预测能力,可能是由于遗传架构或GWAS功率.
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