APOE Haplotype Phasing Using ONT Long-Read Sequencing Reveals Two Common ε3 and ε4 intragenic haplotypes in the Spanish Population.

ABSTRACT:

Background

The apolipoprotein E (APOE) gene is a key genetic determinant of Alzheimer's disease (AD) risk, with the ε4 allele significantly increasing susceptibility. While the pathogenic effects of the ε4 allele are well established, the functional impact of distinct haplotype configurations within the broader ε3 and ε4 backgrounds remains poorly understood. This study investigates the role of intragenic sub haplotypes in modulating APOE expression and their potential influence on AD progression.

Methods

We utilized Oxford Nanopore Technology (ONT) long-read sequencing to phase variants within a 4-kilobase comprising the APOE locus in a cohort of 1,265 individuals with known APOE genotypes. We evaluated the impact of the identified intragenic hap

SUBMITTER: Garcia-Gonzalez P 

PROVIDER: S-EPMC11974914 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature