Development of a panel of genome-wide ancestry informative markers to study admixture throughout the americas


Por: Galanter J.M., Fernandez-Lopez J.C., Gignoux C.R., Barnholtz-Sloan J., Fernandez-Rozadilla C., Via M., Hidalgo-Miranda A., Contreras A.V., Figueroa L.U., Raska P., Jimenez-Sanchez G., Zolezzi I.S., Torres M., Ponte C.R., Ruiz Y., Salas A., Nguyen E., Eng C., Borjas L., Zabala W., Barreto G., González F.R., Ibarra A., Taboada P., Porras L., Moreno F., Bigham A., Gutierrez G., Brutsaert T., León-Velarde F., Moore L.G., Vargas E., Cruz M., Escobedo J., Rodriguez-Santana J., Rodriguez-Cintrón W., Chapela R., Ford J.G., Bustamante C., Seminara D., Shriver M., Ziv E., Burchard E.G., Haile R., Parra E., Carracedo A.

Publicada: 1 ene 2012
Resumen:
Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs) optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS) data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R 2&0.9 for ancestral components with significant between-subject variance). Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region.

Filiaciones:
Galanter J.M.:
 University of California San Francisco, San Francisco, CA, United States

Fernandez-Lopez J.C.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Gignoux C.R.:
 University of California San Francisco, San Francisco, CA, United States

Barnholtz-Sloan J.:
 Case Western Reserve University, Cleveland, OH, United States

Fernandez-Rozadilla C.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Via M.:
 Universitat de Barcelona, Barcelona, Spain

Hidalgo-Miranda A.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Contreras A.V.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Figueroa L.U.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Raska P.:
 Case Western Reserve University, Cleveland, OH, United States

Jimenez-Sanchez G.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Zolezzi I.S.:
 Instituto Nacional de Medicina Genómica, Mexico City, Mexico

Torres M.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Ponte C.R.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Ruiz Y.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Salas A.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

Nguyen E.:
 University of California San Francisco, San Francisco, CA, United States

Eng C.:
 University of California San Francisco, San Francisco, CA, United States

Borjas L.:
 Universidad del Zulia, Maracaibo, Venezuela

Zabala W.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

 Universidad del Zulia, Maracaibo, Venezuela

Barreto G.:
 Universidad del Valle, Santiago de Cali, Colombia

González F.R.:
 Universidad Industrial de Santander, Bucaramanga, Colombia

Ibarra A.:
 Universidad de Antioquia, Medellín, Colombia

Taboada P.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

 Instituto de Investigaciones Forenses, Sucre, Bolivia

Porras L.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain

 Universidad Tecnológica de Pereira, Pereira, Colombia

Moreno F.:
 Unidad de Genética Forense, Servicio Médico-Legal de Chile, Santiago de Chile, Chile

Bigham A.:
 University of Michigan, Ann Arbor, MI, United States

Gutierrez G.:
 University of Colorado at Boulder, Boulder, CO, United States

Brutsaert T.:
 Syracuse University, Syracuse, NY, United States

León-Velarde F.:
 Universidad Peruana Cayetano Heredia, Lima, Peru

Moore L.G.:
 Wake Forest University, Winston-Salem, NC, United States

Vargas E.:
 Universidad Mayor de San Andrés, La Paz, Bolivia

Cruz M.:
 Centro Medico Nacional Siglo XXI, Mexican Social Security Institute (IMSS), Mexico City, Mexico

Escobedo J.:
 Hospital General Regional 1, IMSS, Mexico City, Mexico

Rodriguez-Santana J.:
 Centro de Neumología Pediátrica, San Juan, Puerto Rico

Rodriguez-Cintrón W.:
 VA Caribbean Health System, San Juan, Puerto Rico

Chapela R.:
 Instituto Nacional de Enfermedades Respiratorias (INER), Mexico City, Mexico

Ford J.G.:
 Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States

Bustamante C.:
 Stanford University, Stanford, CA, United States

Seminara D.:
 National Cancer Institute, Bethesda, MD, United States

Shriver M.:
 Penn State University, University Park, PA, United States

Ziv E.:
 University of California San Francisco, San Francisco, CA, United States

Burchard E.G.:
 University of California San Francisco, San Francisco, CA, United States

Haile R.:
 University of Southern California, Los Angeles, CA, United States

Parra E.:
 University of Toronto at Mississauga, Mississauga, Canada

Carracedo A.:
 Fundación Pública Galega de Medicina Xenómica (SERGAS)-CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Spain
ISSN: 15537390
Editorial
PUBLIC LIBRARY SCIENCE, 185 BERRY ST, STE 1300, SAN FRANCISCO, CA 94107 USA, Estados Unidos America
Tipo de documento: Article
Volumen: 8 Número: 3
Páginas:
WOS Id: 000302254800030
ID de PubMed: 22412386
imagen All Open Access, Gold

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