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.
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...
Topics
- Humans
- Mexico
- Hyperlipoproteinemia Type II
- Male
- Female
- Alleles
- Dyslipidemias
- Middle Aged