ArticleAmerican journal of human genetics2016
Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH.Journal of thrombosis and haemostasis : JTH · 2024Article
- Ethnicity-related differences in mitochondrial regulation by insulin stimulation in diabetes.Journal of cellular physiology · 2024Review
- Platelet Mitochondrial Fusion and Function in Vascular Integrity.Circulation research · 2024Article
- Mitofusin-2 Regulates Platelet Mitochondria and Function.Circulation research · 2024Article
- Sources of variability in the human platelet transcriptome.Thrombosis research · 2023Review
- Mitochondrial function in development and disease.Disease models & mechanisms · 2021Review
- Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole-genome and RNA sequencing.Blood · 2021Article
- eQTLs in platelets and iPSC-megakaryocytes.Blood · 2021Article
- Identifying Thyroid Carcinoma-Related Genes by Integrating GWAS and eQTL Data.Frontiers in cell and developmental biology · 2021Article
- A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling.American journal of human genetics · 2020Article
- Tropomyosin 1 genetically constrains in vitro hematopoiesis.BMC biology · 2020Article
- Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a PlateletCirculation research · 2020Article
- Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania.Nature communications · 2019Article
- Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.Scientific reports · 2019Article
- Functionalization of CD36 cardiovascular disease and expression associated variants by interdisciplinary high throughput analysis.PLoS genetics · 2019Article
- The genetics of platelet count and volume in humans.Platelets · 2018Review
- Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP.Thrombosis and haemostasis · 2017Article
- Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.American journal of human genetics · 2017Article
- Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus.Human molecular genetics · 2017Article
- "Soldier's Heart": A Genetic Basis for Elevated Cardiovascular Disease Risk Associated with Post-traumatic Stress Disorder.Frontiers in molecular neuroscience · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Platelets play a central role in ischemic cardiovascular events. Cardiovascular disease (CVD) is a major cause of death worldwide. Numerous genome-wide association studies (GWASs) have identified loci associated with CVD risk. However, our understanding of how these variants contribute to disease is limited. Using data from the platelet RNA and expression 1 (PRAX1) study, we analyzed cis expression quantitative trait loci (eQTLs) in platelets from 154 normal human subjects. We confirmed these results in silico by performing allele-specific expression (ASE) analysis, which demonstrated that the allelic directionality of eQTLs and ASE patterns correlate significantly. Comparison of platelet eQTLs with data from the Genotype-Tissue Expression (GTEx) project revealed that a number of platelet eQTLs are platelet specific and that platelet eQTL peaks localize to the gene body at a higher rate than eQTLs from other tissues. Upon integration with data from previously published GWASs, we found that the trait-associated variant rs1474868 coincides with the eQTL peak for mitofusin 2 (MFN2). Additional experimental and computational analyses revealed that this eQTL is linked to an unannotated alternate MFN2 start site preferentially expressed in platelets. Integration of phenotype data from the PRAX1 study showed that MFN2 expression levels were significantly associated with platelet count. This study links the variant rs1474868 to a platelet-specific regulatory role for MFN2 and demonstrates the utility of integrating multi-omic data with eQTL analysis in disease-relevant tissues for interpreting GWAS results.
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