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| 多因子リスクスコア（Polygenic Risk Score, PRS）× | QTLマッピング× | |
|---|---|---|
| 分野 | 遺伝学 | 遺伝学 |
| 系統 | Process / pipeline | Process / pipeline |
| 提唱年≠ | 2007 | 1989 |
| 提唱者≠ | Shaun Purcell & Nicholas Wray | Eric Lander & David Botstein |
| 種類≠ | Predictive genomic method | Genetic linkage method |
| 原典≠ | Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O'Donovan, M. C., Sullivan, P. F., & Sklar, P. (2007). Common polygenic variation contributes to risk of schizophrenia. Nature, 460(7256), 748–752. link ↗ | Lander, E. S., & Botstein, D. (1989). Mapping Mendelian traits using RFLP linkage maps. Genetics, 121(1), 185–199. link ↗ |
| 別名 | PRS, Polygenic score, Genomic risk score | QTL analysis, Linkage mapping, Trait locus mapping |
| 関連 | 4 | 4 |
| 概要≠ | A polygenic risk score (PRS) is a summary measure that aggregates the effects of many genetic variants across the genome to predict an individual's genetic predisposition to disease or other complex traits. Developed initially by Purcell and colleagues in 2007, PRS methods combine genome-wide association study (GWAS) results with an individual's genotype to generate a personalized risk estimate. PRS approaches have transformed precision medicine by enabling risk stratification and early intervention in populations at high genetic risk. | Quantitative trait loci (QTL) mapping is a genetic method that localizes chromosomal regions influencing quantitative traits—continuous phenotypes controlled by multiple genes and environmental factors. Developed by Lander and Botstein in 1989, QTL mapping uses linkage analysis and trait variation in segregating populations (such as F2 crosses or recombinant inbred lines) to identify genomic intervals containing loci that substantially affect trait values. This foundational approach has been extended to genome-wide association and is essential for understanding the genetic architecture of complex traits. |
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