In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia.

doi:10.1016/j.gene.2022.146908

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Article

In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia.

Gene - 15 Jan 2023

de Araújo Jéssica Nayara Góes, de Oliveira Victor Fernandes, Borges Jéssica Bassani, Dagli-Hernandez Carolina, Marçal Elisangela da Silva Rodrigues, Freitas Renata Caroline Costa de, Bastos Gisele Medeiros, Gonçalves Rodrigo Marques, Faludi André Arpad, Jannes Cinthia Elim, Pereira Alexandre da Costa, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyuki, Luchessi André Ducati, Silbiger Vivian Nogueira

Abstract excerpt

Familial hypercholesterolemia (FH) is a prevalent autosomal genetic disease associated with increased risk of early cardiovascular events and death due to chronic exposure to very high levels of low-density lipoprotein cholesterol (LDL-c). Pathogenic variants in the coding regions of LDLR, APOB and PCSK9 account for most FH cases, and variants in non-coding regions maybe involved in FH as well. Variants in the...

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PMID: 36167182
DOI: 10.1016/j.gene.2022.146908

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