| Full text | |
| Author(s): Show less - |
Sousa da Cruz, Pedro Rodrigues
;
Ananina, Galina
;
Secolin, Rodrigo
;
Gil-da-Silva-Lopes, Vera Lucia
;
Passos Lima, Carmen Silvia
;
Condeixa de Franca, Paulo Henrique
;
Donatti, Amanda
;
Lourenco, Gustavo Jacob
;
de Araujo, Tania Kawasaki
;
Simioni, Milena
;
Lopes-Cendes, Iscia
;
Costa, Fernando Ferreira
;
de Melo, Monica Barbosa
Total Authors: 13
|
| Document type: | Journal article |
| Source: | G3-GENES, GENOMES, GENETICS; v. N/A, p. 13-pg., 2022-05-02. |
| Abstract | |
Admixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ among populations, studies on admixed subjects are still scarce. Latin American populations are the result of complex demographic history, such as 2 or 3-way admixing events, bottlenecks and/or expansions, and adaptive events unique to the American continent. To explore the impact of these events on the genetic structure of Latino populations, we evaluated the following haplotype features: linkage disequilibrium, shared identity by descent segments, runs of homozygosity, and extended haplotype homozygosity (integrated haplotype score) in Latinos represented in the 1000 Genome Project along with array data from 171 Brazilians sampled in the South and Southeast regions of Brazil. We found that linkage disequilibrium decay relates to the amount of American and African ancestry. The extent of identity by descent sharing positively correlates with historical effective population sizes, which we found to be steady or growing, except for Puerto Ricans and Colombians. Long runs of homozygosity, a particular instance of autozygosity, was only enriched in Peruvians and Native Americans. We used simulations to account for random sampling and linkage disequilibrium to filter positive selection indexes and found 244 unique markers under selection, 26 of which are common to 2 or more populations. Some markers exhibiting positive selection signals had estimated time to the most recent common ancestor consistent with human adaptation to the American continent. In conclusion, Latino populations present highly divergent haplotype characteristics that impact genetic architecture and underlie complex phenotypes. (AU) | |
| FAPESP's process: | 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 13/07559-3 - BRAINN - The Brazilian Institute of Neuroscience and Neurotechnology |
| Grantee: | Fernando Cendes |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |
| FAPESP's process: | 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 15/13152-9 - HIGH-DENSITY MICROARRAY IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA: EXTENDING PRIMARY PROPOSAL |
| Grantee: | Pedro Rodrigues Sousa da Cruz |
| Support Opportunities: | Scholarships abroad - Research Internship - Doctorate |
| FAPESP's process: | 19/18886-1 - Pathophysiological mechanisms and treatment of red blood cell abnormalities |
| Grantee: | Fernando Ferreira Costa |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate |
| Grantee: | Vera Lúcia Gil da Silva Lopes |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 12/06438-5 - HIGH-DENSITY MICROARRAY TECHNIQUE IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA |
| Grantee: | Pedro Rodrigues Sousa da Cruz |
| Support Opportunities: | Scholarships in Brazil - Doctorate |