ArticleHuman molecular genetics2014
Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 59 citations in OpenAlex.
- Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci†.Human molecular genetics · 2015Trial
- Multi-trait GWAS reveals divergent local and polygenic architecture of cardiovascular traits across African and European ancestries in the UK Biobank.Communications biology · 2026Article
- Identification of SNPs and Candidate Genes Associated with Monocyte/Lymphocyte Ratio and Neutrophil/Lymphocyte Ratio in Duroc × Erhualian FInternational journal of molecular sciences · 2024Article
- Genome-wide discovery for biomarkers using quantile regression at biobank scale.Nature communications · 2024Article
- An individualized Bayesian method for estimating genomic variants of hypertension.BMC genomics · 2023Article
- Genomic Variation Affecting MPV and PLT Count in Association with Development of Ischemic Stroke and Its Subtypes.Molecular neurobiology · 2023Article
- The importance of polymorphisms in the genes encoding glutathione S-transferase isoenzymes in development of selected cancers and cardiovascular diseases.Molecular biology reports · 2023Review
- Big Data in Gastroenterology Research.International journal of molecular sciences · 2023Review
- VEGF-A related SNPs: a cardiovascular context.Frontiers in cardiovascular medicine · 2023Review
- Molecular Quantitative Trait Locus Mapping in Human Complex Diseases.Current protocols · 2022Article
- LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.Journal of translational medicine · 2022Article
- Multi-omics approaches for revealing the complexity of cardiovascular disease.Briefings in bioinformatics · 2021Review
- Association of Metabolic Syndrome with Aerobic Exercise and LPL rs3779788 Polymorphism in Taiwan Biobank Individuals.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease.PloS one · 2019Article
- Omics, big data and machine learning as tools to propel understanding of biological mechanisms and to discover novel diagnostics and therapeutics.Metabolism: clinical and experimental · 2018Article
- Facilitating the Calculation of the Efficient Score Using Symbolic Computing.The American statistician · 2018Article
- Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood.Nature communications · 2017Article
- Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic 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
- Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWAS) have uncovered many genetic associations for cardiovascular disease (CVD). However, data are limited regarding causal genetic variants within implicated loci. We sought to identify regulatory variants (cis- and trans-eQTLs) affecting expression levels of 93 genes selected by their proximity to SNPs with significant associations in prior GWAS for CVD traits. Expression levels were measured by qRT-PCR in leukocytes from 1846 Framingham Heart Study participants. An additive genetic model was applied to 2.5 million imputed SNPs for each gene. Approximately 45% of genes (N = 38) harbored at least one cis-eSNP after a regional multiple-test adjustment. Applying a more rigorous significance threshold (P < 5 × 10(-8)), we found the expression level of 10 genes was significantly associated with more than one cis-eSNP. The top cis-eSNPs for 7 of these 10 genes exhibited moderate-to-strong association with ≥ 1 CVD clinical phenotypes. Several eSNPs or proxy SNPs (r(2) = 1) were replicated by other eQTL studies. After adjusting for the lead GWAS SNPs for the 10 genes, expression variances explained by top cis-eSNPs were attenuated markedly for LPL, FADS2 and C6orf184, suggesting a shared genetic basis for the GWAS and expression trait. A significant association between cis-eSNPs, gene expression and lipid levels was discovered for LPL and C6orf184. In conclusion, strong cis-acting variants are localized within nearly half of the GWAS loci studied, with particularly strong evidence for a regulatory role of the top GWAS SNP for expression of LPL, FADS2 and C6orf184.
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