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Peer-Reviewed Publication
Hum Genomics2025;19(1):141.November 24, 2025Journal Article

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 Katsanis1,2, Niki Mourtzi3, Consuelo D Quinto-Cortés3, Alexandro J Martagon4,5,6, Alexander G Ioannidis3,7,8,9, Francisco M De La Vega3,7, Jeff Gulcher3, Ming Ta Michael Lee3, Mohammad A Faghihi3, Arturo Lopez-Pineda3,10,11, Sonia Moreno-Grau3, Daniel Mas Montserrat3,7, Míriam Barrabés3,7, David Bonet3,7, Pavel Salazar Fernandez3,10, Jeff Wall3, Babak Moatamed3, Roopa Mehta4,12, Gabriela A Galan-Ramirez4, Rafael Zubirán4, Daniel Elias-Lopez4,12, Teresa Tusié-Luna12, Carlos A Aguilar-Salinas4,5,12,13, Carlos D Bustamante3,7,9,
1Galatea Bio Inc, 14350 Commerce Way, Miami Lakes, FL, 33016, USA. nicholas.katsanis@galatea.bio.
2Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology (IMBB/FORTH), Heraklion, Crete, Greece. nicholas.katsanis@galatea.bio.
3Galatea Bio Inc, 14350 Commerce Way, Miami Lakes, FL, 33016, USA.
4Instituto Nacional de Ciencias Médicas y Nutrición Salvador, Zubirán Vasco de Quiroga 15, Belisario Domínguez Secc 16, Tlalpan, 14080, Mexico City, Mexico.
5Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey, Mexico.
6OriGen Health Research Center, University of Texas at Austin, Austin, TX, USA.
7Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.
8Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.
9Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
10Amphora Health, Morelia, Michoacan, Mexico.
11Escuela Nacional de Estudios Superiores, Unidad Morelia, Universidad Nacional Autónoma de México, Morelia, Michoacan, Mexico.
12Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Ciudad de México, México.
13Dirección de Investigación, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Ciudad de México, México.
PubMed PMC DOI PDF

Abstract

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 var…

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