Genetic control of RNA splicing and its distinct role in complex trait variation
The University of Queensland · Westlake University · +2 more institutions
Abstract
Abstract Most genetic variants identified from genome-wide association studies (GWAS) in humans are noncoding, indicating their role in gene regulation. Previous studies have shown considerable links of GWAS signals to expression quantitative trait loci (eQTLs) but the links to other genetic regulatory mechanisms, such as splicing QTLs (sQTLs), are underexplored. Here, we introduce an sQTL mapping method, t esting for h eterogeneity between is oform-eQ TL e ffects (THISTLE), with improved power over competing methods. Applying THISTLE together with a complementary sQTL mapping strategy to brain transcriptomic ( n = 2,865) and genotype data, we identified 12,794 genes with cis -sQTLs at P < 5 × 10 −8 ,…
Citation impact
- FWCI
- 19.14
- Percentile
- 100%
- References
- 94
Authors
7- TQTing QiCorresponding
The University of Queensland, Westlake University
- YWYang Wu
The University of Queensland
- HFHailing Fang
Westlake University
- FZFutao Zhang
New South Wales Department of Health, The University of Queensland, Neuroscience Research Australia
- SLShouye Liu
The University of Queensland, Westlake University
Topics & keywords
- Biology
- Expression quantitative trait loci
- Genome-wide association study
- Quantitative trait locus
- Genetics
- Genetic association
- RNA splicing
- Genetic variation