Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2

• Published in: American journal of human genetics Vol. 98; no. 5; pp. 883 - 897
• Main Authors: Simon, Lukas M., Chen, Edward S., Edelstein, Leonard C., Kong, Xianguo, Bhatlekar, Seema, Rigoutsos, Isidore, Bray, Paul F., Shaw, Chad A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 05.05.2016; Cell Press; Elsevier
• Subjects: Alleles; Blood platelets; Blood Platelets - metabolism; Cardiovascular disease; Computational Biology - methods; Gene Expression Profiling; Gene loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genomes; Genotype; GTP Phosphohydrolases - genetics; High-Throughput Nucleotide Sequencing - methods; Humans; Mitochondrial Proteins - genetics; Phenotype; Polymorphism, Single Nucleotide - genetics; Quantitative Trait Loci - genetics; RNA Splice Sites - genetics

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...