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Article

Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

PloS one - 1 Jan 2012

Tietjen Ian, Hovingh G Kees, Singaraja Roshni R, Radomski Chris, Barhdadi Amina, McEwen Jason, Chan Elden, Mattice Maryanne, Legendre Annick, Franchini Patrick L, Dubé Marie-Pierre, Kastelein John J P, Hayden Michael R

Abstract excerpt

To date, few mutations are described to underlie highly-elevated HDLc levels in families. Here we sequenced the coding regions and adjacent sequence of the LIPG, CETP, and GALNT2 genes in 171 unrelated Dutch Caucasian probands with HDLc≥90th percentile and analyzed segregation of mutations with lipid phenotypes in family members. In these probands, mutations were most frequent in LIPG (12.9%) followed by GALNT2...

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Share to ATP Binding Cassette Transporter 1
Share to Cholesterol Ester Transfer Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, HDL

Share to Coronary Artery Disease

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Share to N-Acetylgalactosaminyltransferases

Share to Polypeptide N-acetylgalactosaminyltransferase

Source

Open in PubMed Open full text

Identifiers

PMID: 22952570
DOI: 10.1371/journal.pone.0037437
PMCID: PMC3428317

Genes

LIPG
CETP
GALNT2
ABCA1
LCAT
LPL

Variants

Provenance

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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