ArticleAmerican journal of human genetics2013
Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 30 citations in OpenAlex.
- AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants.Molecular and cellular endocrinology · 2021Trial
- Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2019Trial
- Trial
- The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology.Molecular genetics & genomic medicine · 2026Review
- AnGenes · 2026Article
- Enhancing selection of alcohol consumption-associated genes by random forest.The British journal of nutrition · 2024Article
- Exploring the Functional Basis of Epigenetic Aging in Relation to Body Fat Phenotypes in the Norfolk Island Cohort.Current issues in molecular biology · 2023Article
- Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study.Human molecular genetics · 2023Article
- Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons.Journal of forensic sciences · 2022Article
- Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.Scientific reports · 2022Article
- Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease.Scientific reports · 2021Article
- Article
- FN3K expression in COPD: a potential comorbidity factor for cardiovascular disease.BMJ open respiratory research · 2020Article
- Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures.Scientific reports · 2019Article
- Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate.Epigenetics & chromatin · 2019Article
- Article
- Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size.Journal of human genetics · 2018Article
- Article
- Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate.Molecular vision · 2017Article
- Choline metabolites: gene by diet interactions.Current opinion in lipidology · 2016Review
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Cardiovascular disease (CVD) affects millions of people worldwide and is influenced by numerous factors, including lifestyle and genetics. Expression quantitative trait loci (eQTLs) influence gene expression and are good candidates for CVD risk. Founder-effect pedigrees can provide additional power to map genes associated with disease risk. Therefore, we identified eQTLs in the genetic isolate of Norfolk Island (NI) and tested for associations between these and CVD risk factors. We measured genome-wide transcript levels of blood lymphocytes in 330 individuals and used pedigree-based heritability analysis to identify heritable transcripts. eQTLs were identified by genome-wide association testing of these transcripts. Testing for association between CVD risk factors (i.e., blood lipids, blood pressure, and body fat indices) and eQTLs revealed 1,712 heritable transcripts (p < 0.05) with heritability values ranging from 0.18 to 0.84. From these, we identified 200 cis-acting and 70 trans-acting eQTLs (p < 1.84 × 10(-7)) An eQTL-centric analysis of CVD risk traits revealed multiple associations, including 12 previously associated with CVD-related traits. Trait versus eQTL regression modeling identified four CVD risk candidates (NAAA, PAPSS1, NME1, and PRDX1), all of which have known biological roles in disease. In addition, we implicated several genes previously associated with CVD risk traits, including MTHFR and FN3KRP. We have successfully identified a panel of eQTLs in the NI pedigree and used this to implicate several genes in CVD risk. Future studies are required for further assessing the functional importance of these eQTLs and whether the findings here also relate to outbred populations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.