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Distribución de frecuencias del polimorfismo T1236C en el gen ABCB1 en las poblaciones peruanas y comparación con poblaciones de América, Asia, Europa y África
Author(s)
Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología. Lima, Perú. Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura. Lima, Perú. Doctor en medicina
Salazar Granara, Alberto
cirujano., médico
Sandoval Sandoval, José
Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Genética y Biología Molecular. Lima, Perú. Licenciado en biología; doctor en Filosofía.
Barbosa Coelho, Eduardo
Universidad de São Paulo, Facultad de Medicina de Ribeirão Preto, Laboratorio de Hipertensión Experimental y Farmacogenética. São Paulo, Brasil. Doctor en medicina, médico nefrólogo.
Alvarado Yarasca, Ángel
Universidad San Ignacio de Loyola, Vicerrectorado de Investigación, Unidad de Investigación en Farmacología y Medicina Genómica. Lima, Perú. Químico farmacéutico; doctor en Farmacia y Química.
Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina Tradicional y Farmacología. Lima, Perú. Universidad de San Martín de Porres, Facultad de Medicina Humana, Centro de Investigación de Medicina de Altura. Lima, Perú. Sociedad Peruana de Farmacología y Terapéutica Experimental (SOPFARTEX). Lima, Perú. Licenciado en biología, doctor en Ciencias.
Date Issued
11 de septiembre de 2025
Type
Article
Volume
25
Issue
3
Series/Report No.
Horizonte Médico (Lima)
Start Page
e3755
End Page
e3755
ISSN
1727-558X
2227-3530
Abstract
Objective: Mutations in the ABCB1 gene have an impact on the response to various drugs and may be associated with the development of neoplasms. This study explores and compares the frequency distribution of the 1236T>C polymorphism in theABCB1 gene among nine Peruvian populations from different geographical origins and altitudes, as well as the genotype/allele frequencies reported in populations from various continents worldwide. Materials and methods: Sampling was carried out in the following departments and localities: Lima (n = 8), Loreto–Andoas (n = 16), San Martín–Lamas (n = 16), Puno–Uros (n = 7), Puno–Taquile (n = 5), Arequipa–Chivay (n = 10), Arequipa–Cabanaconde (n = 6), Ancash–Parobamba (n = 10), and Apurímac–Andahuaylas (n = 10). Biological samples (peripheral blood and/or epithelial cells) were collected via buccal swabs. Deoxyribonucleic acid (DNA) was extracted using a standard protocol. The 1236T>C polymorphism (rs1128503) was identified using real-time polymerase chain reaction (PCR). Variables were categorized by geographical origin (coast, highlands, or jungle) and altitude (< 2,500 or > 2,500meters above sea level [m a.s.l.]). Statistical analyses included the Hardy–Weinberg equilibrium and Pearson’s chi-square test, with a significance level of p < 0.05 and a 95 % confidence interval (95 % CI). Results: The frequency distribution of the 1236T>Cpolymorphism in the ABCB1 gene was determined for the Peruvian populations studied. Across coastal, highland, and jungle regions, the heterozygous C/T genotype (associated with intermediate P-glycoprotein activity) was the most prevalent, with thehighest frequency (60 %) observed on Taquile Island (Lake Titicaca, Puno). In the overall Peruvian sample (n = 88), the frequency of the C/T genotype was 43 % at < 2,500 and 50 % at > 2,500 m a.s.l. In contrast, the homozygous C/C (normal activity) and T/T (slow activity) genotypes showed similar frequencies at < 2,500 m a.s.l. (30 % and 28 %, respectively) but differed at > 2,500 m a.s.l. (35 % and 15 %, respectively). The overall genotype distribution in the Peruvian populations studied was 47 % C/T, 33 % C/C, and 20 % T/T. The Hardy–Weinberg equilibrium achieved no statistical significance. Conclusions: The 1236T>C polymorphism in the ABCB1 gene among Peruvian populations showed a predominance of the heterozygous C/T genotype, with variations associated with geographic region and altitude. In general, the same trend was observed across countries and continents.