Year: 2024
Type: article
Abstract: In this work we propose a pathogenic classification of hypercholesterolemia based on the genes involved, these mainly for the health public. Are dividing into non-syndromic forms where we group the variants in seven genes LDLR, APOB, PCSK9, ABCG5, ABCG8, ARH, CYP7A1. And the syndromic forms are dysmorphological pathologies where hypercholesterolemia is secondary, due to variants in the genes that code for G6Pase, PBK, AGL, JAG1, NPHS1, MYH9, APTX, TDP1, TTPA, WRNQ, CSB, and the ABCG9 gene. In public health, the study of syndromic forms of hypercholesterolemia shows genes not directly related to cholesterol metabolism, which must be ruled out in the molecular profile of the patient and at the population level.
Institution: Benito Juárez Autonomous University of Oaxaca
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4404936318