» Articles » PMID: 25778948

Genetic Structure Characterization of Chileans Reflects Historical Immigration Patterns

Overview
Journal Nat Commun
Specialty Biology
Date 2015 Mar 18
PMID 25778948
Citations 42
Authors
Affiliations
Soon will be listed here.
Abstract

Identifying the ancestral components of genomes of admixed individuals helps uncovering the genetic basis of diseases and understanding the demographic history of populations. We estimate local ancestry on 313 Chileans and assess the contribution from three continental populations. The distribution of ancestry block-length suggests an average admixing time around 10 generations ago. Sex-chromosome analyses confirm imbalanced contribution of European men and Native-American women. Previously known genes under selection contain SNPs showing large difference in allele frequencies. Furthermore, we show that assessing ancestry is harder at SNPs with higher recombination rates and easier at SNPs with large difference in allele frequencies at the ancestral populations. Two observations, that African ancestry proportions systematically decrease from North to South, and that European ancestry proportions are highest in central regions, show that the genetic structure of Chileans is under the influence of a diffusion process leading to an ancestry gradient related to geography.

Citing Articles

Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review.

Borbon A, Briceno J, Valderrama-Aguirre A Pharmgenomics Pers Med. 2025; 18:19-34.

PMID: 39902237 PMC: 11789506. DOI: 10.2147/PGPM.S490135.


Inbreeding and Gallbladder Cancer Risk: Homozygosity Associations Adjusted for Indigenous American Ancestry, BMI, and Genetic Risk of Gallstone Disease.

Ceballos F, Boekstegers F, Scherer D, Ponce C, Marcelain K, Garate-Calderon V Cancers (Basel). 2025; 16(24.

PMID: 39766094 PMC: 11674764. DOI: 10.3390/cancers16244195.


The Chilean COVID-19 Genomics Network Biorepository: A Resource for Multi-Omics Studies of COVID-19 and Long COVID in a Latin American Population.

Signore I, Donoso G, Bocchieri P, Tobar-Calfucoy E, Yanez C, Carvajal-Silva L Genes (Basel). 2024; 15(11).

PMID: 39596552 PMC: 11593408. DOI: 10.3390/genes15111352.


Genetic determinants of serum bilirubin using inferred native American gene variants in Chilean adolescents.

Miranda J, Pereira A, Corvalan C, Miquel J, Alberti G, Gana J Front Genet. 2024; 15:1382103.

PMID: 38826804 PMC: 11140026. DOI: 10.3389/fgene.2024.1382103.


Distinct Driver Pathway Enrichments and a High Prevalence of Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis.

Tapia-Valladares C, Valenzuela G, Gonzalez E, Maureira I, Toro J, Freire M Int J Mol Sci. 2024; 25(9).

PMID: 38731914 PMC: 11083322. DOI: 10.3390/ijms25094695.


References
1.
Sans M . Admixture studies in Latin America: from the 20th to the 21st century. Hum Biol. 2000; 72(1):155-77. View

2.
Grossman S, Shlyakhter I, Shylakhter I, Karlsson E, Byrne E, Morales S . A composite of multiple signals distinguishes causal variants in regions of positive selection. Science. 2010; 327(5967):883-6. DOI: 10.1126/science.1183863. View

3.
Liu C, Musco S, Lisitsina N, Yaklichkin S, Lisitsyn N . Genomic organization of a new candidate tumor suppressor gene, LRP1B. Genomics. 2000; 69(2):271-4. DOI: 10.1006/geno.2000.6331. View

4.
Bryc K, Velez C, Karafet T, Moreno-Estrada A, Reynolds A, Auton A . Colloquium paper: genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci U S A. 2010; 107 Suppl 2:8954-61. PMC: 3024022. DOI: 10.1073/pnas.0914618107. View

5.
Winkler C, Nelson G, Smith M . Admixture mapping comes of age. Annu Rev Genomics Hum Genet. 2010; 11:65-89. PMC: 7454031. DOI: 10.1146/annurev-genom-082509-141523. View