ArticlePLoS genetics2010
Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.
Article in PLoS genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Meta analysis of candidate gene variants outside the LPA locus with Lp(a) plasma levels in 14,500 participants of six White European cohorts.Atherosclerosis · 2011Pooled it
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- Deficiency of Adipose Triglyceride Lipase Induces Metabolic Syndrome and Cardiomyopathy in Zebrafish.International journal of molecular sciences · 2022Article
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- A novelGenes & diseases · 2021Article
- The Role of Metabolic Lipases in the Pathogenesis and Management of Liver Disease.Hepatology (Baltimore, Md.) · 2020Review
- ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant: A 5-Year Follow-Up.JACC. Case reports · 2020Article
- Low cardiac lipolysis reduces mitochondrial fission and prevents lipotoxic heart dysfunction in Perilipin 5 mutant mice.Cardiovascular research · 2020Article
- The Gene and Protein Expression of the Main Components of the Lipolytic System in Human Myocardium and Heart Perivascular Adipose Tissue. Effect of Coronary Atherosclerosis.International journal of molecular sciences · 2020Article
- Of mice and men: The physiological role of adipose triglyceride lipase (ATGL).Biochimica et biophysica acta. Molecular and cell biology of lipids · 2019Review
- Review
- Collection of the Abstracts of the 2019Sp PMD: Translational Myology and Mobility Medicine.European journal of translational myology · 2019Article
- Metabolic lipid muscle disorders: biomarkers and treatment.Therapeutic advances in neurological disorders · 2019Review
- Identifying Multi-Omics Causers and Causal Pathways for Complex Traits.Frontiers in genetics · 2019Article
- Lipid Myopathies.Journal of clinical medicine · 2018Review
- Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.BMC medical genetics · 2018Article
- Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness.Frontiers in genetics · 2018Article
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA) plasma concentrations, as well as the role of rare variants in a general population, has not yet been thoroughly addressed. The adipose triglyceride lipase (ATGL) is encoded by the PNPLA2 gene and catalyzes the rate-limiting step of lipolysis. It represents a prominent candidate gene affecting FFA concentrations. We therefore screened the full genomic region of ATGL for mutations in 1,473 randomly selected individuals from the SAPHIR (Salzburg Atherosclerosis Prevention program in subjects at High Individual Risk) Study using a combined Ecotilling and sequencing approach and functionally investigated all detected protein variants by in-vitro studies. We observed 55 novel mostly rare genetic variants in this general population sample. Biochemical evaluation of all non-synonymous variants demonstrated the presence of several mutated but mostly still functional ATGL alleles with largely varying residual lipolytic activity. About one-quarter (3 out of 13) of the investigated variants presented a marked decrease or total loss of catalytic function. Genetic association studies using both continuous and dichotomous approaches showed a shift towards lower plasma FFA concentrations for rare variant carriers and an accumulation of variants in the lower 10%-quantile of the FFA distribution. However, the generally rather small effects suggest either only a secondary role of rare ATGL variants on the FFA levels in the SAPHIR population or a recessive action of ATGL variants. In contrast to these rather small effects, we describe here also the first patient with "neutral lipid storage disease with myopathy" (NLSDM) with a point mutation in the catalytic dyad, but otherwise intact protein.
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