SynthesisLancet (London, England)2008
LDL-cholesterol concentrations: a genome-wide association study.
Synthesis in Lancet (London, England), 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 14 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
192 citing papers in PubMed, 14 syntheses or guidelines pooled it, 355 citations in OpenAlex.
- Genetic Determinants of Coronary Artery Disease in Type 2 Diabetes Mellitus Among Asian Populations: A Meta-Analysis.Medical sciences (Basel, Switzerland) · 2026Pooled it
- Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.Arteriosclerosis, thrombosis, and vascular biology · 2022Pooled it
- RNAAgeCalc: A multi-tissue transcriptional age calculator.PloS one · 2020Pooled it
- A meta-analysis of three identified single nucleotide polymorphisms at 1p13.3 and 1q41 and their associations with lipid levels and coronary artery disease.The Kaohsiung journal of medical sciences · 2017Pooled it
- Interaction of methylation-related genetic variants with circulating fatty acids on plasma lipids: a meta-analysis of 7 studies and methylation analysis of 3 studies in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.The American journal of clinical nutrition · 2016Pooled it
- Positive correlation between variants of lipid metabolism‑related genes and coronary heart disease.Molecular medicine reports · 2013Pooled it
- Pooled it
- Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.European heart journal · 2012Pooled it
- Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.PLoS genetics · 2011Pooled it
- Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.PLoS genetics · 2010Pooled it
- A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.PLoS genetics · 2009Pooled it
- Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.Circulation. Cardiovascular genetics · 2009Pooled it
- Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.PLoS genetics · 2009Pooled it
- Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.Arteriosclerosis, thrombosis, and vascular biology · 2008Pooled it
- The Association between Serum LDL Cholesterol and Genetic Variation in Chromosomal Locus 1p13.3 among Coronary Artery Disease Patients.BioMed research international · 2015Trial
- APOA5 genotype modulates 2-y changes in lipid profile in response to weight-loss diet intervention: the Pounds Lost Trial.The American journal of clinical nutrition · 2012Trial
- Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.BMC medical genetics · 2011Trial
- Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.Molecular psychiatry · 2011Trial
- The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome.BMC cardiovascular disorders · 2008Trial
- Genome-Wide Association of Genetic Variants with Intestinal Cholesterol Absorption Markers in a European Population.Nutrients · 2026Article
132 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
31 authors at 15 institutions in 6 countries.
Funding
Abstract
backgroundLDL cholesterol has a causal role in the development of cardiovascular disease. Improved understanding of the biological mechanisms that underlie the metabolism and regulation of LDL cholesterol might help to identify novel therapeutic targets. We therefore did a genome-wide association study of LDL-cholesterol concentrations.
methodsWe used genome-wide association data from up to 11,685 participants with measures of circulating LDL-cholesterol concentrations across five studies, including data for 293 461 autosomal single nucleotide polymorphisms (SNPs) with a minor allele frequency of 5% or more that passed our quality control criteria. We also used data from a second genome-wide array in up to 4337 participants from three of these five studies, with data for 290,140 SNPs. We did replication studies in two independent populations consisting of up to 4979 participants. Statistical approaches, including meta-analysis and linkage disequilibrium plots, were used to refine association signals; we analysed pooled data from all seven populations to determine the effect of each SNP on variations in circulating LDL-cholesterol concentrations.
findingsIn our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)] and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical association with LDL cholesterol at chromosomal locus 1p13.3. The second genome screen found a third statistically associated SNP at the same locus (rs646776 [p=4.3x10(-9)]). Meta-analysis of data from all studies showed an association of SNPs rs599839 (combined p=1.2x10(-33)) and rs646776 (p=4.8x10(-20)) with LDL-cholesterol concentrations. SNPs rs599839 and rs646776 both explained around 1% of the variation in circulating LDL-cholesterol concentrations and were associated with about 15% of an SD change in LDL cholesterol per allele, assuming an SD of 1 mmol/L.
interpretationWe found evidence for a novel locus for LDL cholesterol on chromosome 1p13.3. These results potentially provide insight into the biological mechanisms that underlie the regulation of LDL cholesterol and might help in the discovery of novel therapeutic targets for cardiovascular disease.
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Registered trials
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.