Genetic variability among Mexican Mestizo and Amerindian populations based on three ABCB1 polymorphisms

The most widely studied polymorphisms of the ABCB1 gene are rs1128503 (c.1236C>T), rs2032582 (c.2677G>T/A), and rs1045642 (c.3435C>T). Although variation in ABCB1 allele frequencies among Mexican Mestizos (admixed) from different regions has been observed, Mexican Amerindians have been poor...

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Published in:Molecular biology reports 2018-12, Vol.45 (6), p.2525-2533
Main Authors: Favela-Mendoza, Alma Faviola, Rangel-Villalobos, Héctor, Fricke-Galindo, Ingrid, Ortega-Vázquez, Alberto, Martínez-Cortés, Gabriela, López-López, Marisol
Format: Article
Language:English
Subjects:
Animal Anatomy
Animal Biochemistry
Biomedical and Life Sciences
Gene frequency
Genetic drift
Genetic variability
Genotype & phenotype
Haplotypes
Histology
Life Sciences
Morphology
Original Article
Population studies
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Summary:The most widely studied polymorphisms of the ABCB1 gene are rs1128503 (c.1236C>T), rs2032582 (c.2677G>T/A), and rs1045642 (c.3435C>T). Although variation in ABCB1 allele frequencies among Mexican Mestizos (admixed) from different regions has been observed, Mexican Amerindians have been poorly studied. We aimed to describe the genetic variability of these three ABCB1 polymorphisms in a total sample of 273 Mexican volunteers that included Mestizos from the state of Yucatán, and Amerindians from seven populations (Tarahumara, Mayo, Huichol, Purépecha, Nahua, Tojolabal, and Maya). Genotypes were determined by means of Taq Man probes (qPCR). Genotype distribution was in Hardy–Weinberg equilibrium for all three ABCB1 polymorphisms in the eight Mexican populations analyzed. For c.1236C>T and c.3435C>T, the heterozygous C/T was the most frequent genotype in the majority of the studied Mexican populations (range 30.8–65.4%), while heterozygous G/T was the most common genotype for c.2677G>T/A (range 25.9–51.2%), mainly followed by G/G (range 3.2–47.1%) and T/T (range 7.0–35.5%). 12 haplotypes were estimated from the three ABCB1 polymorphisms analyzed, with TTT the most frequent haplotype (mean, 37.0%). Genetic differentiation was demonstrated among the studied Mexican populations (Fst p value 
ISSN:0301-4851
1573-4978
DOI:10.1007/s11033-018-4419-x