Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential...

Area of Science:

• Genetics
• Cardiovascular Disease Genomics
• Population Genetics

Background:

• Apolipoprotein B (APOB) is crucial for atherogenic lipoproteins and implicated in familial hypercholesterolemia (FH).
• APOB genetic variation is understudied in Latin American and admixed populations.
• Understanding APOB variation is key for diagnosing and managing cardiovascular conditions.

Purpose of the Study:

• To conduct a descriptive analysis of APOB variants in Ecuadorian mestizo patients.
• To characterize APOB genetic variation in an underrepresented admixed population.
• To compare observed variant frequencies with existing Latin American reference datasets.

Main Methods:

• Next-generation sequencing (NGS) was used to identify APOB variants.
• Genetic ancestry inference was performed on the study cohort.
• APOB variant classification followed ACMG criteria.
• Allele frequencies were compared with ALFA and PAGE Latin American datasets.

Main Results:

• A total of 227 APOB variants were identified in 60 Ecuadorian mestizo patients.
• The majority of variants were benign (n=220) or likely benign (n=3).
• Three variants of uncertain significance (VUS) were detected; no pathogenic variants were found.
• Observed APOB variant frequencies were comparable to other Latin American populations.
• The genetic background of the cohort was predominantly Native American and European.

Conclusions:

• This study provides the first comprehensive overview of APOB variation in Ecuadorian mestizo individuals.
• Findings suggest that APOB variant frequencies in this admixed population align with broader Latin American patterns.
• The results emphasize the importance of population-specific genomic data and regional reference datasets for accurate variant interpretation in admixed groups.