| No. | Title | Authors | Journal |
|---|---|---|---|
| 172 | Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression | Võsa U, Claringbould A, Westra HJ, et al. | Nature Genetics (2024) 53(9): 1300-1310 |
Abstract
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected cis-eQTL for 88\% of genes, and these were replicable in numerous tissues. Distal trans-eQTL (detected for 37\% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular trans-eQTL. Trans-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13\% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
Presenter: Seokwoo JO
Date: 2024.11.14.THU 18:00 ~ 23:00
조석우 학생 주도하에, eQTL 연구와 GWAS study, eQTS, PGS 개념에 대해 이야기하는 시간을 가졌습니다.
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected cis-eQTL for 88\% of genes, and these were replicable in numerous tissues. Distal trans-eQTL (detected for 37\% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular trans-eQTL. Trans-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13\% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
Presenter: Seokwoo JO
Date: 2024.11.14.THU 18:00 ~ 23:00
조석우 학생 주도하에, eQTL 연구와 GWAS study, eQTS, PGS 개념에 대해 이야기하는 시간을 가졌습니다.