title: Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador.
abstract: This study aims to establish the current state of the IT-15 (HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats, compared with the ethnicity of individuals. A total of 412 individuals were studied using nested polymerase chain reaction and Sanger sequencing: 75 individuals were indigenous (Kichwas), 211 mestizos, and 65 Afro-Ecuadorians. We included 31 patients who were clinically diagnosed with Huntington's disease (HD) and relatives of the affected patients (n = 30). Moreover, we correlated the presence of HD in Ecuadorian patients with 46 genetic ancestry-informative insertion-deletion polymorphic markers. We found that 77.20% had <28 CAG repetitions, 18.80% had mutable alleles, 2.27% had incomplete penetrance, and 1.70% reflected >39 repetitions. The average of CAG repetitions was 24 ± 3 for indigenous people; 28 ± 2 for mestizos; and 24 ± 3.2 repetitions for the Afro-Ecuadorians. The ancestral component showed that the main ancestry corresponded to Native Americans (0.873) and European ascendants (0.145), Africans were less represented in the evaluated population (0.018). There was a significant difference between the number of CAG repeats in mestizos and indigenous people (P < .01), suggesting that the Ecuadorian mestizo population has a risk factor for the gene mutation.
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: C
authors.initials: C
authors.lastname: Paz-Y-Miño
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: C
authors.initials: C
authors.lastname: Salazar-Ruales
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: J M
authors.initials: JM
authors.lastname: García-Cárdenas
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: A
authors.initials: A
authors.lastname: Cabrera-Andrade
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: A
authors.initials: A
authors.lastname: López-Cortés
authors.affiliation: Instituto de Investigaciones Biomédicas, Facultad de Ciencias de la Salud. Universidad de las Américas, Quito, Ecuador.
authors.forename: V H
authors.initials: VH
authors.lastname: Pavón-Realpe
authors.affiliation: Instituto de Investigaciones Biomédicas, Facultad de Ciencias de la Salud. Universidad de las Américas, Quito, Ecuador.
authors.forename: E
authors.initials: E
authors.lastname: Eras
authors.affiliation: Fomat Medical Ecuador, Guayaquil, Ecuador.
authors.forename: C
authors.initials: C
authors.lastname: Rodriguez P
authors.affiliation: Hospital San Vicente de Paul, Ibarra, Ecuador.
authors.forename: J P
authors.initials: JP
authors.lastname: Domínguez Enríquez
authors.affiliation: Hospital Enrique Garcés, Quito, Ecuador.
authors.forename: C D
authors.initials: CD
authors.lastname: Cusco Cuzco
authors.affiliation: Hospital San Vicente de Paul, Ibarra, Ecuador.
authors.forename: D C
authors.initials: DC
authors.lastname: Navarrete Socasi
authors.affiliation: Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad Tecnológica Equinoccial, Quito, Ecuador.
authors.forename: P E
authors.initials: PE
authors.lastname: Leone
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D003710:Demography; D004484:Ecuador; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein / Q000235:genetics*; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein
keywords: 
  CAG repeats; Huntington's disease; autosomal dominant; neurodegeneration