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Genetic diversity of the HLA system in human populations from the Sierra (Andean), Oriente (Amazonian) and Costa (Coastal) regions of Ecuador
Authors:Juan M. Galarza  Rodrigo Barquera  Ana M. Tito Álvarez  Diana I. Hernández Zaragoza  Gabriela Peralta Sevilla  Andrea Tamayo  Mariel Pérez  David Dávila  Lotty Birnberg  Víctor Acuña Alonzo  Johannes Krause  Marcelo Grijalva
Affiliation:1. Unidad de Genética y Molecular, Hospital Carlos Andrade Marín, Instituto Ecuatoriano de Seguridad Social, Quito, Ecuador;2. Laboratorio de Genética Molecular, Escuela Nacional de Antropología e Historia (ENAH), Mexico City, Mexico;3. Department of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany;4. Facultad de Ciencias de la Salud, Universidad de las Américas, Quito, Ecuador;5. Escuela de Ciencias Biológicas e Ingeniería, Universidad de Investigación de Tecnología Experimental Yachay, Urcuquí, Ecuador;6. Departamento de Ciencias de la Vida y Centro de Nanociencia y Nanotecnología, Universidad de las Fuerzas Armadas ESPE, Sangolquí, Ecuador
Abstract:We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in a total of 1101 Ecuadorian individuals from three regions of the country, the Coastal region, the Andean region, and the Amazonian region, to obtain information regarding allelic and haplotypic frequencies and their linkage disequilibrium. We find that the most frequent HLA haplotypes with significant linkage disequilibrium in those populations are HLA-A*24~B*35~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*04~DQB1*03:02, A*24~B*35~DRB1*14~DQB1*03:01, A*02~B*35~DRB1*14~DQB1*03:01 and A*02~B*40:02~DRB1*04~DQB1*03:02. The only non-Native American haplotype with frequency >1% shared by all groups was A*29~B*44~DRB1*07~DQB1*02. Admixture estimates obtained by a maximum likelihood method using HLA-B as genetic estimator revealed that the main genetic components for this sample of mixed-ancestry Ecuadorians are Native American (ranging from 52.86% to 63.83%) and European (from 28.95% to 46.54%), while an African genetic component was only apparent in the Coastal region (18.19%). Our findings provide a starting point for the study of population immunogenetics of Ecuadorian populations.
Keywords:HLA  Ecuador  Population immunogenetics  Biological diversity  Mixed ancestry populations  MHC
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