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

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 di...

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Bibliographic Details
Published in:Genetics and molecular biology 2020-01, Vol.43 (4), p.e20200143-e20200143
Main Authors: Colistro, Valentina, Mut, Patricia, Hidalgo, Pedro C, Carracedo, Angel, Quintela, Inés, Rojas-Martínez, Augusto, Sans, Mónica
Format: Article
Language:English
Subjects:
Admixture
BIOCHEMISTRY & MOLECULAR BIOLOGY
genetic ancestry
GENETICS & HEREDITY
heterozygosity
Human and Medical Genetics
Latin American populations
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Summary: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.
ISSN:1415-4757
1678-4685
1678-4685
DOI:10.1590/1678-4685-GMB-2020-0143