ArticleNature genetics2015
Identification of common genetic variants controlling transcript isoform variation in human whole blood.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association study identifies variation at 6q25.1 associated with survival in multiple myeloma.Nature communications · 2016Pooled it
- A new SNP comparison (SnpC) method for detecting unique/enriched gene-SNP variants and comparing population gene mutation diversity.BMC bioinformatics · 2026Article
- Misregulated alternative splicing in endometriosis: a role for aberrant mRNA variants in endometriotic cell growth.Cell death discovery · 2026Article
- Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.Nature communications · 2025Article
- Integrating genetic and transcriptomic data to identify genes underlying obesity risk loci.International journal of obesity (2005) · 2025Article
- Aberrant alternative splicing in alcoholic hepatitis: regulatory roles of RBPs and sQTLs.BMC gastroenterology · 2025Article
- Identification and characterization of whole blood gene expression and splicing quantitative trait loci during early to mid-lactation of dairy cattle.BMC genomics · 2024Article
- Disentangling the complexity of psoriasis in the post-genome-wide association era.Genes and immunity · 2023Review
- Genome- and transcriptome-wide splicing associations with alcohol use disorder.Scientific reports · 2023Article
- Comparing feature selection and machine learning approaches for predictingFrontiers in neuroinformatics · 2023Article
- Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits.Genetic epidemiology · 2022Article
- Dissecting Complex Traits Using Omics Data: A Review on the Linear Mixed Models and Their Application in GWAS.Plants (Basel, Switzerland) · 2022Review
- Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease.Human molecular genetics · 2022Review
- eQTL Set-Based Association Analysis Identifies Novel Susceptibility Loci for Barrett Esophagus and Esophageal Adenocarcinoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Genetic variant rs9848497 up-regulatesProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Molecular Quantitative Trait Locus Mapping in Human Complex Diseases.Current protocols · 2022Article
- Evaluation and characterization of expression quantitative trait analysis methods in the Hybrid Rat Diversity Panel.Frontiers in genetics · 2022Article
- Integrating genome-wide association and transcriptome prediction model identifies novel target genes for osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- A transcriptome-wide association study to detect novel genes for volumetric bone mineral density.Bone · 2021Article
- Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.Nature genetics · 2021Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
An understanding of the genetic variation underlying transcript splicing is essential to dissect the molecular mechanisms of common disease. The available evidence from splicing quantitative trait locus (sQTL) studies has been limited to small samples. We performed genome-wide screening to identify SNPs that might control mRNA splicing in whole blood collected from 5,257 Framingham Heart Study participants. We identified 572,333 cis sQTLs involving 2,650 unique genes. Many sQTL-associated genes (40%) undergo alternative splicing. Using the National Human Genome Research Institute (NHGRI) genome-wide association study (GWAS) catalog, we determined that 528 unique sQTLs were significantly enriched for 8,845 SNPs associated with traits in previous GWAS. In particular, we found 395 (4.5%) GWAS SNPs with evidence of cis sQTLs but not gene-level cis expression quantitative trait loci (eQTLs), suggesting that sQTL analysis could provide additional insights into the functional mechanism underlying GWAS results. Our findings provide an informative sQTL resource for further characterizing the potential functional roles of SNPs that control transcript isoforms relevant to common diseases.
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