Prevalence of ABCB1 3435C>T polymorphism in the Cuban population

Area of Science:

• Pharmacogenomics
• Human Genetics

Background:

• The ABCB1 gene encodes P-glycoprotein, a transporter influencing drug pharmacokinetics.
• ABCB1 gene polymorphisms, such as 3435C>T, can alter P-glycoprotein function and drug response.
• Understanding population-specific allele frequencies is crucial for personalized medicine.

Purpose of the Study:

• To determine the allele and genotype frequencies of the ABCB1 3435C>T polymorphism in a healthy Cuban population.
• To investigate potential associations between genotype/allele frequencies and demographic factors like gender, ethnicity, and geographic residence within Cuba.

Main Methods:

• Genotyping of the ABCB1 3435C>T polymorphism using oligonucleotide probes and next-generation sequencing.
• Analysis of 421 unrelated healthy individuals residing in Cuba.
• Stratification of data by gender, ethnic background, and place of residence (La Habana vs. Santiago de Cuba).

Main Results:

• The genotype distribution adhered to the Hardy-Weinberg equilibrium.
• The allelic frequency for the 3435C variant was 63.5%.
• Significant differences in allele and genotype distributions were observed between individuals from La Habana and Santiago de Cuba, particularly when considering ethnic background. Allelic and genotype distributions varied among Caucasian, Admixed, and Black Cuban subjects, aligning with the mixed ethnic origin of the Cuban population and showing similarities to Brazilian, African, Spanish, and Chinese populations.

Conclusions:

• This study provides the first comprehensive report on the allele and genotype frequencies of the ABCB1 3435C>T polymorphism in Cuba.
• The observed variations in frequencies across different regions and ethnic groups highlight the potential for tailoring pharmacotherapy.
• These findings can contribute to the development of personalized medicine strategies in Cuba.