APOE gene polymorphism analysis in Barranquilla, Colombia

Area of Science:

• Genetics
• Population Genetics
• Molecular Biology

Background:

• The apolipoprotein E (APOE) gene polymorphism is a significant risk factor for lipid metabolism disorders, cardiovascular diseases, and Alzheimer's disease.
• Understanding APOE allele and genotype frequencies across diverse populations is crucial for risk assessment and disease predisposition studies.

Purpose of the Study:

• To investigate the APOE gene polymorphism within a representative population sample from Barranquilla, Colombia.
• To determine the allelic and genotypic frequencies of the APOE gene in this specific Colombian population.

Main Methods:

• A descriptive and comparative study was conducted.
• A sample of 227 unrelated individuals from Barranquilla, Colombia, was analyzed for APOE gene polymorphism.

Main Results:

• The most prevalent allele was APOE ε3 (85%), followed by ε4 (13%) and ε2 (1.8%).
• Observed genotypes included ε3/ε3 (71.8%), ε3/ε4 (24.2%), ε2/ε3 (2.2%), ε2/ε4 (1.3%), and ε4/ε4 (0.4%). The ε2/ε2 genotype was absent.
• The study sample adhered to Hardy-Weinberg equilibrium.

Conclusions:

• The observed frequencies of APOE ε3 allele and ε3/ε3 genotype in Barranquilla are comparable to those reported in Brazil, Mexico, and certain Colombian Amerindian groups.
• The absence of the ε2/ε2 genotype is consistent with findings in other global populations.
• The prevalence of the APOE ε4 allele and associated genotypes in this population may correlate with increased susceptibility to hypercholesterolemia, myocardial infarction, and Alzheimer's disease.