Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

doi:10.1097/FPC.0000000000000524

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Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.

Pharmacogenetics and genomics - 1 Jun 2024

Dagli-Hernandez Carolina, Ferreira Glaucio Monteiro, Freitas Renata Caroline Costa de, Borges Jessica Bassani, Oliveira Victor Fernandes de, Gonçalves Rodrigo Marques, Faludi Andre Arpad, Marçal Elisangela da Silva Rodrigues, Bastos Gisele Medeiros, Bortolin Raul Hernandes, Hirata Mario Hiroyuki, Hirata Rosario Dominguez Crespo

Abstract excerpt

OBJECTIVES: This study explored the association of deleterious variants in pharmacodynamics (PD) genes with statin response and adverse effects in patients with familial hypercholesterolemia (FH) and analyzed their potential effects on protein structure and stability. METHODS: Clinical and laboratory data were obtained from 144 adult FH patients treated with statins. A panel of 32 PD genes was analyzed by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38682317
DOI: 10.1097/FPC.0000000000000524

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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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