对东亚人群10种常见疾病的多基因风险评分表现的评估
Hae-Un Jung1, Hyein Jung1, Eun Ju Baek2
1Department of Biomedical Science, Graduate School, Kyung Hee University, Seoul, Republic of Korea.
Communications biology
|March 5, 2025
概括
多基因风险评分 (PRS) 通过整合欧洲遗传数据,在东亚人中显示出更高的准确性. 跨种群PRS提高了疾病预测,尽管需要更大的亚洲数据集才能达到最佳性能.
科学领域:
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
- 人口健康 人口健康
背景情况:
- 多基因风险评分 (PRS) 通过使用遗传变异来评估疾病易感性.
- 现有的PRS绩效数据严重偏向欧洲人口.
- 在东亚人群中,PRS的预测准确性仍未得到充分研究.
研究的目的:
- 在韩国队列 (健康检查者,HEXA) 中评估各种PRS方法的性能.
- 将来自东亚数据的单个人口PRS与整合欧洲和东亚GWAS数据的跨人口PRS进行比较.
- 确定最佳策略,以提高非欧洲祖先的PRS准确性.
主要方法:
- 使用PRS-CS,LDpred2和Lassosum与东亚GWAS数据构建单个人口PRS.
- 通过结合欧洲和东亚GWAS总结统计数据,使用PRS-CSx和CT-SLEB开发了跨人口PRS.
- 使用像概率比率测试 (LRT),每标准偏差赔率比率 (perSD OR),净重新分类改进 (NRI) 和曲线下的面积 (AUC) 等指标评估PRS性能.
主要成果:
- 在韩国队列中,PRS-CS在单种群方法中表现优越.
- 与单个人群PRS相比,跨人群PRS在多个指标 (LRT,perSD OR,NRI,AUC) 上显著提高了预测性能.
- 跨人口PRS实现了欧洲PRS预测绩效的87.8%,这表明通过数据集成获得了实质性的收益.
结论:
- 将欧洲GWAS数据集成到PRS构建中,为预测东亚人口的疾病易感性提供了显著的好处.
- 虽然跨人口PRS显示出希望,但开发更大,多样化的东亚基因组数据集对于最大限度地提高预测准确性至关重要.
- 这项研究为优化PRS对不同人群提供了有价值的见解,并突出了基因组流行病学未来研究的领域.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.6K
07:31Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
Published on: May 15, 2020
7.0K
相关概念视频
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
