ArticleCirculation. Cardiovascular genetics2012
Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia.
Article in Circulation. Cardiovascular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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44 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.European journal of human genetics : EJHG · 2014Pooled it
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- Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.Journal of atherosclerosis and thrombosis · 2024Review
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- Sequence Variant Analysis of theInternational journal of molecular sciences · 2023Article
- Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.International journal of molecular sciences · 2022Article
- The Genetic Basis of Hypertriglyceridemia.Current atherosclerosis reports · 2021Review
- Chylomicronemia from GPIHBP1 autoantibodies.Journal of lipid research · 2020Review
- Genetic and functional studies of theMolecular genetics and metabolism reports · 2020Article
- Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels.PloS one · 2020Article
- Hypertriglyceridemia and Atherosclerosis: Using Human Research to Guide Mechanistic Studies in Animal Models.Frontiers in endocrinology · 2020Review
- Genetics of Hypertriglyceridemia.Frontiers in endocrinology · 2020Review
- PartialJournal of lipid research · 2019Article
- Regulation of hepatic autophagy by stress-sensing transcription factor CREBH.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- How Genomics Is Personalizing the Management of Dyslipidemia and Cardiovascular Disease Prevention.Current cardiology reports · 2018Review
- Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.Atherosclerosis · 2017Review
- Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.Oncotarget · 2017Article
- Interaction between stress responses and circadian metabolism in metabolic disease.Liver research (Beijing, China) · 2017Article
- Genetics of Triglycerides and the Risk of Atherosclerosis.Current atherosclerosis reports · 2017Review
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17 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundRare variant accumulation studies can implicate genes in disease susceptibility when a significant burden is observed in patients versus control subjects. Such analyses might be particularly useful for candidate genes that are selected based on experiments other than genome-wide association studies (GWAS). We sought to determine whether rare variants in non-GWAS candidate genes identified from mouse models and human mendelian syndromes of hypertriglyceridemia (HTG) accumulate in patients with polygenic adult-onset HTG. METHODS AND
resultsWe resequenced protein coding regions of 3 genes with established roles (APOC2, GPIHBP1, LMF1) and 2 genes recently implicated (CREB3L3 and ZHX3) in TG metabolism. We identified 41 distinct heterozygous rare variants, including 29 singleton variants, in the combined sample; in total, we observed 47 rare variants in 413 HTG patients versus 16 in 324 control subjects (odds ratio=2.3; P=0.0050). Post hoc assessment of genetic burden in individual genes using 3 different tests suggested that the genetic burden was most prominent in the established genes LMF1 and APOC2, and also in the recently identified CREB3L3 gene.
conclusionsThese extensive resequencing studies show a significant accumulation of rare genetic variants in non-GWAS candidate genes among patients with polygenic HTG, and indicate the importance of testing specific hypotheses in large-scale resequencing studies.
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