糖尿病多基因风险评分:异质性和临床翻译
Hector I Ortega1, Miriam S Udler2,3,4,5, Anna L Gloyn6,7,8
1Department of Pediatrics, Division of Endocrinology, Stanford University School of Medicine, Stanford, CA, USA.
Nature reviews. Endocrinology
|June 4, 2025
概括
多基因风险评分 (PRS) 提供了对1型和2型糖尿病的个人遗传倾向的见解. 这些得分有助于理解疾病异质性,并促进糖尿病精准医学的发展.
科学领域:
- 遗传学和精准医学 遗传学和精准医学
- 内分泌学和代谢性疾病.
背景情况:
- 糖尿病包括各种疾病,具有不同的临床特征和潜在的病理生理学.
- 在过去的十年中,多基因风险评分 (PRS) 已成为精准医学中宝贵的工具.
- 独特的多基因结构有助于1型和2型糖尿病,影响许多病理生理路径.
研究的目的:
- 审查和对比开发1型和2型糖尿病多基因风险评分 (PRS) 的进展.
- 探索PRS和分区多基因分数如何阐明糖尿病病因和分子途径.
- 讨论临床转化机会,包括改善分类,风险查和糖尿病个性化干预措施.
主要方法:
- 关于1型和2型糖尿病多基因风险评分 (PRS) 发展近期进展的综述.
- 分析利用PRS和分区多基因分数的研究,以了解糖尿病病因和分子途径.
- 检查糖尿病中PRS临床翻译的进展和挑战.
主要成果:
- PRS和分区多基因分数量化遗传倾向,并揭示糖尿病的分子异质性.
- 研究已经利用PRS了解糖尿病病因和细胞/组织特异性疾病途径.
- 在临床应用方面取得了进展,但与祖先相关的挑战需要紧急关注,以实现公平的翻译.
结论:
- 多基因风险评分 (PRS) 通过表征个体遗传风险和疾病异质性,正在推动糖尿病精准医学的发展.
- 进一步的方法进步和解决与祖先相关的差异对于在糖尿病护理中公平的临床转化PRS至关重要.
- 在改善糖尿病分类,风险查和开发个性化干预方面,PRS具有显著的潜力.
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