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Article

Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects.

Journal of clinical lipidology - 1 Jan 2000

Cefalù Angelo B, Spina Rossella, Noto Davide, Rabacchi Claudio, Giammanco Antonina, Simone Maria Luisa, Brucato Federica, Scrimali Chiara, Gueli-Alletti Maria Grazia, Barbagallo Carlo M, Tarugi Patrizia, Averna Maurizio R

Abstract excerpt

BACKGROUND: Primary Hypobetalipoproteinemias (HBL) are a group of dominant and recessive monogenic genetic disorders caused by mutations in APOB, PCSK9, ANGPTL3, MTTP, Sar1b genes and characterized by plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in a given population. Mutations in the candidate genes...

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PMID: 35589500
DOI: 10.1016/j.jacl.2022.04.009

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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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