Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

doi:10.1186/s40246-025-00831-9

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Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Human genomics - 24 Nov 2025

Katsanis Nicholas, Mourtzi Niki, Quinto-Cortés Consuelo D, Martagon Alexandro J, Ioannidis Alexander G, De La Vega Francisco M, Gulcher Jeff, Lee Ming Ta Michael, Faghihi Mohammad A, Lopez-Pineda Arturo, Moreno-Grau Sonia, Montserrat Daniel Mas, Barrabés Míriam, Bonet David, Fernandez Pavel Salazar, Wall Jeff, Moatamed Babak, Mehta Roopa, Galan-Ramirez Gabriela A, Zubirán Rafael, Elias-Lopez Daniel, Tusié-Luna Teresa, Aguilar-Salinas Carlos A, Bustamante Carlos D

Abstract excerpt

Familial hypercholesterolemia (FH) is a genetic disorder driven in part by mutations in three genes that encode components of the cholesterol pathway: LDLR, APOB, and PCSK9. However, the majority of FH genetics has been performed in individuals of European descent. Here, we leveraged a cohort of 300 patients from the Mexican FH registry to understand how rare, high liability alleles and common variants might...

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Identifiers

PMID: 41287107
DOI: 10.1186/s40246-025-00831-9
PMCID: PMC12642200

Genes

FH
APOB
APOE
LDLR
PCSK9
PDZK1
PLIN1

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