Differential admixture in Latin American populations and its impact on the study of colorectal cancer

Colistro, Valentina - Mut, Patricia - Hidalgo, Pedro C. - Carracedo, Ángel - Quintela, Inés - Rojas-Martínez, Augusto - Sans, Mónica

Resumen:

Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.

Detalles Bibliográficos
2020
Admixture
Genetic ancestry
Heterozygosity
Latin America populations
GENÉTICA
PÉRDIDA DE HETEROCIGOCIDAD
VARIACIÓN GENÉTICA
POBLACIÓN
GRUPOS DE POBLACIÓN
RELACIONES RACIALES
ESTUDIO DE ASOCIACIÓN DEL GENOMA COMPLETO
Inglés
Universidad de la República
COLIBRI
https://hdl.handle.net/20.500.12008/55815
Acceso abierto
Licencia Creative Commons Atribución (CC - By 4.0)
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author Colistro, Valentina
author2 Mut, Patricia
Hidalgo, Pedro C.
Carracedo, Ángel
Quintela, Inés
Rojas-Martínez, Augusto
Sans, Mónica
author2_role author
author
author
author
author
author
author_facet Colistro, Valentina
Mut, Patricia
Hidalgo, Pedro C.
Carracedo, Ángel
Quintela, Inés
Rojas-Martínez, Augusto
Sans, Mónica
author_role author
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collection COLIBRI
dc.contributor.filiacion.none.fl_str_mv Colistro Valentina, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Métodos Cuantitativos
Mut Patricia, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología Biológica
Hidalgo Pedro C., Universidad de la República (Uruguay). Centro Universitario de Tacuarembó. Polo de Desarrollo Universitario Diversidad Genética Humana
Carracedo Ángel, Universidad de Santiago de Compostela (España). Centro Nacional de Genotipado y CIBER de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III. Grupo de Medicina Xenómica
Quintela Inés, Universidad de Santiago de Compostela (España). Centro Nacional de Genotipado
Rojas-Martínez Augusto, Tecnológico de Monterrey (México). Escuela de Medicina y Ciencias de la Salud
Sans Mónica, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología Biológica
dc.coverage.spatial.es.fl_str_mv AMÉRICA LATINA
dc.creator.none.fl_str_mv Colistro, Valentina
Mut, Patricia
Hidalgo, Pedro C.
Carracedo, Ángel
Quintela, Inés
Rojas-Martínez, Augusto
Sans, Mónica
dc.date.accessioned.none.fl_str_mv 2026-07-01T13:56:44Z
dc.date.available.none.fl_str_mv 2026-07-01T13:56:44Z
dc.date.issued.none.fl_str_mv 2020
dc.description.abstract.none.fl_txt_mv Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.
dc.format.extent.es.fl_str_mv 9 p.
dc.format.mimetype.es.fl_str_mv application/pdf
dc.identifier.citation.es.fl_str_mv Colistro V, Mut P, Hidalgo P y otros. Differential admixture in Latin American populations and its impact on the study of colorectal cancer. Genetics and Molecular Biology [en línea]. 2020;43(4). 9 p.
dc.identifier.doi.none.fl_str_mv 10.1590/1678-4685-GMB-2020-0143
dc.identifier.eissn.none.fl_str_mv 1678-4685
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12008/55815
dc.language.iso.none.fl_str_mv en
eng
dc.publisher.es.fl_str_mv Sociedade Brasileira de Genética
dc.relation.none.fl_str_mv Genetics and Molecular Biology. 2020;43(4)
dc.rights.license.none.fl_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
dc.source.none.fl_str_mv reponame:COLIBRI
instname:Universidad de la República
instacron:Universidad de la República
dc.subject.es.fl_str_mv Admixture
Genetic ancestry
Heterozygosity
Latin America populations
dc.subject.other.es.fl_str_mv GENÉTICA
PÉRDIDA DE HETEROCIGOCIDAD
VARIACIÓN GENÉTICA
POBLACIÓN
GRUPOS DE POBLACIÓN
RELACIONES RACIALES
ESTUDIO DE ASOCIACIÓN DEL GENOMA COMPLETO
dc.title.none.fl_str_mv Differential admixture in Latin American populations and its impact on the study of colorectal cancer
dc.type.es.fl_str_mv Artículo
dc.type.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
description Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.
eu_rights_str_mv openAccess
format article
id COLIBRI_c8eb455c970ffbddf838d0351bafc1bb
identifier_str_mv Colistro V, Mut P, Hidalgo P y otros. Differential admixture in Latin American populations and its impact on the study of colorectal cancer. Genetics and Molecular Biology [en línea]. 2020;43(4). 9 p.
10.1590/1678-4685-GMB-2020-0143
1678-4685
instacron_str Universidad de la República
institution Universidad de la República
instname_str Universidad de la República
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network_acronym_str COLIBRI
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publishDate 2020
reponame_str COLIBRI
repository.mail.fl_str_mv karina.camps@seciu.edu.uy
repository.name.fl_str_mv COLIBRI - Universidad de la República
repository_id_str 4771
rights_invalid_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
spelling Colistro Valentina, Universidad de la República (Uruguay). Facultad de Medicina. Departamento de Métodos CuantitativosMut Patricia, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología BiológicaHidalgo Pedro C., Universidad de la República (Uruguay). Centro Universitario de Tacuarembó. Polo de Desarrollo Universitario Diversidad Genética HumanaCarracedo Ángel, Universidad de Santiago de Compostela (España). Centro Nacional de Genotipado y CIBER de Enfermedades Raras (CIBERER)-Instituto de Salud Carlos III. Grupo de Medicina XenómicaQuintela Inés, Universidad de Santiago de Compostela (España). Centro Nacional de GenotipadoRojas-Martínez Augusto, Tecnológico de Monterrey (México). Escuela de Medicina y Ciencias de la SaludSans Mónica, Universidad de la República (Uruguay). Facultad de Humanidades y Ciencias de la Educación. Departamento de Antropología BiológicaAMÉRICA LATINA2026-07-01T13:56:44Z2026-07-01T13:56:44Z2020Colistro V, Mut P, Hidalgo P y otros. Differential admixture in Latin American populations and its impact on the study of colorectal cancer. Genetics and Molecular Biology [en línea]. 2020;43(4). 9 p.https://hdl.handle.net/20.500.12008/5581510.1590/1678-4685-GMB-2020-01431678-4685Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.Submitted by Almiñana María Cecilia (marialminana@gmail.com) on 2026-06-30T20:13:07Z No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Differential admixture in Latin American populations.pdf: 11102593 bytes, checksum: 015caffe693f4dcc15bdd4ffa65e1d9a (MD5)Approved for entry into archive by Almiñana María Cecilia (marialminana@gmail.com) on 2026-06-30T20:15:32Z (GMT) No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Differential admixture in Latin American populations.pdf: 11102593 bytes, checksum: 015caffe693f4dcc15bdd4ffa65e1d9a (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@seciu.edu.uy) on 2026-07-01T13:56:44Z (GMT). No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Differential admixture in Latin American populations.pdf: 11102593 bytes, checksum: 015caffe693f4dcc15bdd4ffa65e1d9a (MD5) Previous issue date: 20209 p.application/pdfenengSociedade Brasileira de GenéticaGenetics and Molecular Biology. 2020;43(4)Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución (CC - By 4.0)AdmixtureGenetic ancestryHeterozygosityLatin America populationsGENÉTICAPÉRDIDA DE HETEROCIGOCIDADVARIACIÓN GENÉTICAPOBLACIÓNGRUPOS DE POBLACIÓNRELACIONES RACIALESESTUDIO DE ASOCIACIÓN DEL GENOMA COMPLETODifferential admixture in Latin American populations and its impact on the study of colorectal cancerArtículoinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionreponame:COLIBRIinstname:Universidad de la Repúblicainstacron:Universidad de la RepúblicaColistro, ValentinaMut, PatriciaHidalgo, Pedro C.Carracedo, ÁngelQuintela, InésRojas-Martínez, AugustoSans, MónicaLICENSElicense.txtlicense.txttext/plain; charset=utf-84267http://localhost:8080/xmlui/bitstream/20.500.12008/55815/5/license.txt6429389a7df7277b72b7924fdc7d47a9MD55CC-LICENSElicense_urllicense_urltext/plain; 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- Universidad de la Repúblicafalse
spellingShingle Differential admixture in Latin American populations and its impact on the study of colorectal cancer
Colistro, Valentina
Admixture
Genetic ancestry
Heterozygosity
Latin America populations
GENÉTICA
PÉRDIDA DE HETEROCIGOCIDAD
VARIACIÓN GENÉTICA
POBLACIÓN
GRUPOS DE POBLACIÓN
RELACIONES RACIALES
ESTUDIO DE ASOCIACIÓN DEL GENOMA COMPLETO
status_str publishedVersion
title Differential admixture in Latin American populations and its impact on the study of colorectal cancer
title_full Differential admixture in Latin American populations and its impact on the study of colorectal cancer
title_fullStr Differential admixture in Latin American populations and its impact on the study of colorectal cancer
title_full_unstemmed Differential admixture in Latin American populations and its impact on the study of colorectal cancer
title_short Differential admixture in Latin American populations and its impact on the study of colorectal cancer
title_sort Differential admixture in Latin American populations and its impact on the study of colorectal cancer
topic Admixture
Genetic ancestry
Heterozygosity
Latin America populations
GENÉTICA
PÉRDIDA DE HETEROCIGOCIDAD
VARIACIÓN GENÉTICA
POBLACIÓN
GRUPOS DE POBLACIÓN
RELACIONES RACIALES
ESTUDIO DE ASOCIACIÓN DEL GENOMA COMPLETO
url https://hdl.handle.net/20.500.12008/55815