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Article

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

American journal of human genetics - 5 Dec 2013

Rosenthal Elisabeth A, Ranchalis Jane, Crosslin David R, Burt Amber, Brunzell John D, Motulsky Arno G, Nickerson Deborah A, Wijsman Ellen M, Jarvik Gail P

Abstract excerpt

Hypertriglyceridemia (HTG) is a heritable risk factor for cardiovascular disease. Investigating the genetics of HTG may identify new drug targets. There are ~35 known single-nucleotide variants (SNVs) that explain only ~10% of variation in triglyceride (TG) level. Because of the genetic heterogeneity of HTG, a family study design is optimal for identification of rare genetic variants with large effect size...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24268658
DOI: 10.1016/j.ajhg.2013.10.019
PMCID: PMC3852929

Genes

PLD2

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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