ArticleScientific reports2017
Rare non-coding variants are associated with plasma lipid traits in a founder population.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- A unified method for rare variant analysis of gene-environment interactions.Statistics in medicine · 2020Pooled it
- The Use of Population Isolates to Identify Metabolic Syndrome's Genetic Aetiology.Molecular genetics & genomic medicine · 2026Review
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.Pharmacological reports : PR · 2022Review
- Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes.Scientific reports · 2021Article
- The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.Current opinion in endocrine and metabolic research · 2020Article
- Association between theBiomedicines · 2020Article
- Integrating DNA sequencing and transcriptomic data for association analyses of low-frequency variants and lipid traits.Human molecular genetics · 2020Article
- Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2019Article
- Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traits.European journal of human genetics : EJHG · 2019Article
- Genomic Predictors of Asthma Phenotypes and Treatment Response.Frontiers in pediatrics · 2019Review
- Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach.Frontiers in immunology · 2019Article
- Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.Journal of lipid research · 2018Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Founder populations are ideally suited for studies on the clinical effects of alleles that are rare in general populations but occur at higher frequencies in these isolated populations. Whole genome sequencing in 98 Hutterites, a founder population of European descent, and subsequent imputation revealed 660,238 single nucleotide polymorphisms that are rare (<1%) or absent in European populations, but occur at frequencies >1% in the Hutterites. We examined the effects of these rare in European variants on plasma lipid levels in 828 Hutterites and applied a Bayesian hierarchical framework to prioritize potentially causal variants based on functional annotations. We identified two novel non-coding rare variants associated with LDL cholesterol (rs17242388 in LDLR) and HDL cholesterol (rs189679427 between GOT2 and APOOP5), and replicated previous associations of a splice variant in APOC3 (rs138326449) with triglycerides and HDL-C. All three variants are at well-replicated loci in GWAS but are independent from and have larger effect sizes than the known common variation in these regions. Candidate eQTL analyses in in LCLs in the Hutterites suggest that these rare non-coding variants are likely to mediate their effects on lipid traits by regulating gene expression.
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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.