ArticlePLoS genetics2011
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- LIPG SNPs, their haplotypes and gene-environment interactions on serum lipid levels.Lipids in health and disease · 2019Trial
- An Integrated Multi-omics Single Cell Atlas of the Human RPE and Choroid.bioRxiv : the preprint server for biology · 2026Article
- Association of ABCA1 and LIPG Polymorphisms with Coronary Heart Disease in a Chinese Han Population: A Case-Control Study with Sex-Stratified Analysis.International journal of general medicine · 2026Article
- High-density lipoproteins, Part 1. Epidemiology, antiatherogenic effects, and therapies designed to increase their serum levels.American journal of preventive cardiology · 2025Review
- Father's adolescent body silhouette is associated with offspring asthma, lung function and BMI through DNA methylation.Communications biology · 2025Article
- A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.Nutrients · 2025Review
- Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.PLoS genetics · 2021Article
- Hyperalphalipoproteinemia and Beyond: The Role of HDL in Cardiovascular Diseases.Life (Basel, Switzerland) · 2021Review
- HDL-C and Cardiovascular Risk: You Don't Need to Worry about Extremely High HDL-C Levels.Journal of lipid and atherosclerosis · 2021Article
- Circadian rhythms, metabolic oscillators, and the target of rapamycin (TOR) pathway: the Neurospora connection.Current genetics · 2019Review
- Association between the LIPG polymorphisms and serum lipid levels in the Maonan and Han populations.The journal of gene medicine · 2019Article
- Deciphering the Emerging Complexities of Molecular Mechanisms at GWAS Loci.American journal of human genetics · 2018Review
- Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.Nature communications · 2018Article
- Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.Circulation. Genomic and precision medicine · 2018Article
- Examining the paradox of high high-density lipoprotein and elevated cardiovascular risk.Journal of thoracic disease · 2018Article
- HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.Current cardiology reports · 2017Review
- Functional Regression Models for Epistasis Analysis of Multiple Quantitative Traits.PLoS genetics · 2016Article
- Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.Journal of lipid research · 2015Article
- A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.American journal of human genetics · 2014Article
- A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).Journal of the American College of Cardiology · 2014Review
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWAS) have successfully identified loci associated with quantitative traits, such as blood lipids. Deep resequencing studies are being utilized to catalogue the allelic spectrum at GWAS loci. The goal of these studies is to identify causative variants and missing heritability, including heritability due to low frequency and rare alleles with large phenotypic impact. Whereas rare variant efforts have primarily focused on nonsynonymous coding variants, we hypothesized that noncoding variants in these loci are also functionally important. Using the HDL-C gene LIPG as an example, we explored the effect of regulatory variants identified through resequencing of subjects at HDL-C extremes on gene expression, protein levels, and phenotype. Resequencing a portion of the LIPG promoter and 5' UTR in human subjects with extreme HDL-C, we identified several rare variants in individuals from both extremes. Luciferase reporter assays were used to measure the effect of these rare variants on LIPG expression. Variants conferring opposing effects on gene expression were enriched in opposite extremes of the phenotypic distribution. Minor alleles of a common regulatory haplotype and noncoding GWAS SNPs were associated with reduced plasma levels of the LIPG gene product endothelial lipase (EL), consistent with its role in HDL-C catabolism. Additionally, we found that a common nonfunctional coding variant associated with HDL-C (rs2000813) is in linkage disequilibrium with a 5' UTR variant (rs34474737) that decreases LIPG promoter activity. We attribute the gene regulatory role of rs34474737 to the observed association of the coding variant with plasma EL levels and HDL-C. Taken together, the findings show that both rare and common noncoding regulatory variants are important contributors to the allelic spectrum in complex trait loci.
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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.