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.
Nicholas Katsanis, Niki Mourtzi, Consuelo D. Quinto-Cortés, Alexandro J. Martagón, Alexander G. Ioannidis, Francisco M. De La Vega, Jeff Gulcher, Ming Ta Michael Lee, Mohammad Ali Faghihi, Arturo López Pineda, Sonia Moreno–Grau, Daniel Mas Montserrat, Míriam Barrabés, David Bonet, Pavel Salazar Fernández, , Carlos D. Bustamante
The paper analyzes a Mexican FH cohort to show rare and common alleles in FH genes and a novel locus contribute to disease risk, with replication in UK Biobank.
Human Genomics · Nov 24, 2025Peer-reviewedGenetic & Genomic Medicine