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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

2025-04-26

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 co...

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Literature Corpus work: 73f94976-a1d4-56c8-8a85-6e918026d9e5
DOI: 10.1101/2025.04.24.25325891

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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 locusDOI 10.1101/2025.04.24.25325891Read

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