Genetic variability analysis in a population from Bogotá: Towards a haplotype map

Juan David Caicedo, Alejandro Cáceres, Carlos E. Arboleda-Bustos, María Fernanda Mahecha, Jenny Ortega, Gonzalo Arboleda, Humberto Arboleda, .

Keywords: HapMap Project, The 1000 Genome Project, genetic variability, Colombia

Abstract

Introduction: The HapMap and the 1000 Genomes projects have been important for understanding the genetic component of common diseases and normal phenotypes.
However, the Colombian genetic variability included in these projects is not fully representative of our country.
Objective: To contribute to the knowledge of the Colombian genetic variability through the genomic study of a sample of individuals from Bogotá.
Materials and methods: A total of 2,372,784 genetic markers were genotyped in 32 individuals born in Bogotá whose parents are from the same region, using the Illumina™
platform. The genetic variability levels were determined and compared with the data available from other populations of the 1000 Genomes Project.
Results: The genetic variability detected in the individuals from Bogotá was similar to those with shared ancestry. However, despite the low levels of genetic differentiation between Bogotá and Medellín, populations the principal component analysis suggested a different genetic composition in them.
Conclusions: Our genomic analysis of a Bogotá sample allowed us to detect similarities and differences with other American populations. The increase of the Bogotá sample and the inclusion of samples from other regions of the country will improve our understanding of the genetic variability in Colombia, essential for studies of human health and the prevention and treatment of common diseases in our country.

Downloads

Download data is not yet available.
  • Juan David Caicedo Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia
  • Alejandro Cáceres Instituto de Salud Global de Barcelona, Barcelona, España
  • Carlos E. Arboleda-Bustos Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia
  • María Fernanda Mahecha Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia
  • Jenny Ortega Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia
  • Gonzalo Arboleda Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia
  • Humberto Arboleda Grupo de Neurociencias, Universidad Nacional de Colombia, Bogotá, D.C., Colombia

References

Park ST, Kim J. Trends in next-generation sequencing and a new era for whole genome sequencing. Int Neurourol J. 2016;20(Suppl.2):S76-83. https://doi.org/10.5213/inj.1632742.371

Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011;12:228. https://doi.org/10.1186/gb-2011-12-9-228

Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis E. The next-generation sequencing revolution and its impact on genomics. Cell. 2013;155:27-38. https://doi.org/10.1016/j.cell.2013.09.006

Gonzaga-Jáuregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012;63:35-61. https://doi.org/10.1146/annurev-med-051010-162644

The International HapMap Consortium. The International HapMap Project. Nature. 2003;426:789-96. https://doi.org/10.1038/nature02168

The International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1229-320. https://doi.org/10.1038/nature04226

The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449:851-62. https://doi.org/10.1038/nature06258

1,000 Genome Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56-65. https://doi.org/10.1038/nature11632

1,000 Genome Project Consortium. A global reference for human genetic variation. Nature. 2015;526:68-74. https://doi.org/10.1038/nature15393

Rishishwar L, Conley AB, Wigington CH, Wang L, Valderrama-Aguirre A, King Jordan I. Ancestry, admixture and fitness in Colombian genomes. Sci Rep. 2015;5:12376. https://doi.org/10.1038/srep12376

Guhl E. Bosquejo de una geografía tropical. Bogotá, D.C.: Colcultura; 1975. p. 39-92.

Sandoval C, de la Hoz A, Yunis E. Estructura genética de la población colombiana. Revista de la Facultad de Medicina. 1993;41:3-14.

Secretaría Distrital de Planeación de Bogotá. Caracterización de la población indígena que reside en el Distrito Capital según Censo de Población 2005. Bogotá: Secretaría Distrital de Planeación; 2007.

Departamento Administrativo Nacional de Estadística. Estadísticas por demografía y población. Bogotá: Departamento Administrativo Nacional de Estadística; 2010.

Illumina, Inc. Infinium Omni2.5-8 Kit. Fecha de consulta: 17 de agosto de 2018. Disponible en: https://www.illumina.com/products/by-type/microarray-kits/infinium-omni25-8.html

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-75. https://doi.org/10.1086/519795

Bioconductor. Bioconductor. Open Source Software for Bioinformatics. (2018). Fecha de consulta: 17 de agosto de 2018. Disponible en: https://www.bioconductor.org/

Bioconductor. Stats SnpMatrix and XSnpMatrix classes and methods. (s/f). Fecha de consulta: 17 de agosto de 2018. Disponible en: http://bioconductor.org/packages/snpStats/

Anderson CA. Data quality control. In: Zeggini E, Morris A, editors. Analysis of complex disease association studies. San Diego: Academic Press; 2011. p. 95-108. https://doi.org/10.1016/B978-0-12-375142-3.10007-0

Linck EB, Battey CJ. Minor allele frequency thresholds strongly affect population structure inference with genomic datasets. Mol Ecol Resour. 2019. https://doi.org/10.1111/1755-0998.12995

Holsinger KE. Hardy-Weinberg Law. In: Brenner S, Miller JH, editors. Encyclopedia of genetics. New York: Academic Press; 2001. p. 912-4. https://doi.org/10.1006/rwgn.2001.0585

How to Cite
1.
Caicedo JD, Cáceres A, Arboleda-Bustos CE, Mahecha MF, Ortega J, Arboleda G, et al. Genetic variability analysis in a population from Bogotá: Towards a haplotype map. biomedica [Internet]. 2019 Sep. 1 [cited 2024 May 17];39(3):595-600. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/4753

Some similar items:

Published
2019-09-01
Section
Short communication

Altmetric

Article metrics
Abstract views
Galley vies
PDF Views
HTML views
Other views
QR Code