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跨祖先GWAS识别了59个位点,并改善了结石疾病的风险预测和精细绘制

Xi Cao¹, Minghui Jiang², Yunlong Guan¹

¹Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Nature communications

|April 11, 2025

概括

这项大型研究确定了59个结石疾病的基因位置,其中包括13个新的基因位置. 一个新的多基因风险评分提高了预测,显示较高的遗传风险与较年轻的发病有关.

科学领域:

遗传学遗传学是一个
腎臟病學 (nephrology) 是一種醫學.
流行病学流行病学

背景情况:

由于复杂的遗传和环境因素,结石疾病的发病率在全球范围内不断上升.
跨祖先全基因组关联研究 (GWAS) 是揭示复杂疾病遗传结构的强大工具.
了解遗传易感性对于制定有针对性的预防和治疗策略至关重要.

研究的目的:

进行大规模的跨祖先GWAS元分析,以确定与结石疾病相关的遗传位置.
精确地绘制因果变异,并在已识别的位置确定潜在的因果基因.
开发和评估一个跨种群的多基因风险评分 (PRS) 以改善结石疾病的预测.

主要方法:

对来自欧洲和东亚人口的GWAS数据进行了元分析,包括31,715例和943,655例对照.
利用精细映射技术,在相关位置内识别潜在的因果变异和信号.
使用GWAS总结统计数据构建并验证了跨人群的多基因风险评分 (PRS-CSx_EAS&EUR).

主要成果:

确定了59个结石疾病易感点,发现了13个新点.
精细地图确定了25个假定因果信号,包括与TRIOBP基因的新兴关联.
与其他PRS方法相比,PRS-CSx_EAS&EUR表现出优越的预测性能.
在PRS-CSx_EAS&EUR五位数中最高的个体患结石的风险增加了1.83倍,PRS较高与发病时年龄较小有关.

结论:

这项研究显著提高了对结石疾病遗传结构的理解.
鉴定到的位点和因果信号为病因学研究提供了新的目标.
开发的多基因风险评分提供了更好的预测和早期识别有风险个体的潜力.

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