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Article

Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.

Atherosclerosis - 1 May 2004

Bertolini Stefano, Pisciotta Livia, Di Scala Lilla, Langheim Silvia, Bellocchio Antonella, Masturzo Paola, Cantafora Alfredo, Martini Scipione, Averna Maurizio, Pes Gianni, Stefanutti Claudio, Calandra Sebastiano

Abstract excerpt

The clinical expression of heterozygous familial hypercholesterolemia (FH) is highly variable even in patients carrying the same LDL receptor (LDL-R) gene mutation. This variability might be due to environmental factors as well as to modifying genes affecting lipoprotein metabolism. We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL...

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Share to Apolipoproteins
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15135251
DOI: 10.1016/j.atherosclerosis.2003.12.037

Genes

CAD
ABCA1
LPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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