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

Author:

Rodeiro Guerra Idania1ORCID,Herrea Jose2ORCID,Cuétara Elizabeth3ORCID,Garrido Gabino4ORCID,Reyes Elizabeth3,Martínez Ioanna5,Pérez Carlos L.5ORCID,Fernández Gisselle5,Hernández-Balmaseda Ivones1,Delgado René67,Stingl Julia C.8,Berghe Wim Vanden9

Affiliation:

1. Departamento de Farmacología , Instituto de Ciencias del Mar (ICIMAR) , La Habana , Cuba

2. Instituto de Ciencia y Tecnología de Materiales, IMRE , Universidad de La Habana , La Habana , Cuba

3. Departamento de Farmacología , Instituto Nacional de Oncología y Radiobiología (INOR) , La Habana , Cuba

4. Departamento de Ciencias Farmacéuticas , Facultad de Ciencias, Universidad de Católica del Norte , Antofagasta , Chile

5. Instituto de Ciencias Básicas y Preclínicas Victoria de Girón (ICBP) , Universidad de Ciencias Médicas de La Habana (UCMH) , La Habana , Cuba

6. Instituto de Farmacia y Alimentos (IFAL) , Universidad de La Habana , La Habana , Cuba

7. Facultad de Ciencias Naturales y Agropecuarias , Universidad de Santander (UDES) , Bucaramanga , Colombia

8. Institute of Clinical Pharmacology , University Hospital of RWTH Aachen , Aachen , Germany

9. Laboratory of Protein Science , Proteomics and Epigenetic Signaling (PPES), Integrated Personalized and Precision Oncology Network (IPPON), University of Antwerp , Antwerp , Belgium

Abstract

Abstract Objectives ABCB1 gene polymorphisms can modify P-glycoprotein function with clinical consequences. Methods The 3435C>T polymorphism prevalence was analyzed using oligonucleotide probes and next-generation sequencing in 421 unrelated healthy individuals living in Cuba. Data were stratified by gender, ethnic background and residence. The genotype and allelic frequencies were determined. Results The genotype distribution met the Hardy–Weinberg equilibrium assumption. The allelic frequency was 63.5% for the 3435C variant. The genotype frequencies were 41.1% for CC, 44.9% for CT and 14.0% for TT. The allele and genotype distributions differed between individuals living in La Habana and Santiago de Cuba (p<0.05) when ethnic background was analyzed. The allelic distribution was similar among Admixed and Black subjects, and they differed from Caucasians. The CC genotype was equally distributed among Admixed and Black subjects, and they differed from Caucasians. The TT genotype frequency differed between Caucasians and Admixed. The CT genotype was distributed differently among the three groups. Similar distribution was obtained in Brazilians, whereas some similarities were observed in African, Spanish and Chinese populations, consistent with the mixed Cuban ethnic origin. Conclusions This is the first report on allele and genotype frequencies of the 3435C>T polymorphism in Cuba, which may support personalized medicine programs.

Publisher

Walter de Gruyter GmbH

Subject

Pharmacology (medical),General Pharmacology, Toxicology and Pharmaceutics

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