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Article

Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

PLoS genetics - 9 Dec 2010

Coassin Stefan, Schweiger Martina, Kloss-Brandstätter Anita, Lamina Claudia, Haun Margot, Erhart Gertraud, Paulweber Bernhard, Rahman Yusof, Olpin Simon, Wolinski Heimo, Cornaciu Irina, Zechner Rudolf, Zimmermann Robert, Kronenberg Florian

Abstract excerpt

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...

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Identifiers

PMID: 21170305
DOI: 10.1371/journal.pgen.1001239
PMCID: PMC3000363

Genes

PNPLA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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