Differential admixture in Latin American populations and its impact on the study of colorectal cancer
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.
| 2020 | |
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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 |
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| Inglés | |
| Universidad de la República | |
| COLIBRI | |
| https://hdl.handle.net/20.500.12008/55815 | |
| Acceso abierto | |
| Licencia Creative Commons Atribución (CC - By 4.0) |
| _version_ | 1877555268116545536 |
|---|---|
| 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 |
| language | eng |
| language_invalid_str_mv | en |
| network_acronym_str | COLIBRI |
| network_name_str | COLIBRI |
| oai_identifier_str | oai:colibri.udelar.edu.uy:20.500.12008/55815 |
| 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 |