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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence

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Author(s):
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Cruz, Pedro R. S. [1] ; Ananina, Galina [1] ; Gil-da-Silva-Lopes, Vera Lucia [2] ; Simioni, Milena [2] ; Menaa, Farid [1] ; Bezerra, Marcos A. C. [3] ; Domingos, Igor F. [3] ; Araujo, Aderson S. [4] ; Pellegrino, Renata [5] ; Hakonarson, Hakon [5] ; Costa, Fernando F. [6] ; de Melo, Monica Barbosa [1]
Total Authors: 12
Affiliation:
[1] Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Lab Human Genet, Campinas, SP - Brazil
[2] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet & Genom Med, Campinas, SP - Brazil
[3] Univ Fed Pernambuco, Genet Postgrad Program, Recife, PE - Brazil
[4] Haematol & Haemotherapy Fdn Pernambuco HEMOPE, Recife, PE - Brazil
[5] Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA 19104 - USA
[6] Univ Campinas UNICAMP, Haematol & Haemotherapy Ctr, Campinas, SP - Brazil
Total Affiliations: 6
Document type: Journal article
Source: SCIENTIFIC REPORTS; v. 9, JUL 26 2019.
Web of Science Citations: 1
Abstract

Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. Here we propose to explore ancestry and population structure in a genome-wide study with particular emphasis on chromosome 11 in two SCA admixed cohorts obtained from urban populations of Brazil (Pernambuco and Sao Paulo) and the United States (Pennsylvania). Ancestry inference showed different proportions of European, African and American backgrounds in the composition of our samples. Brazilians were more admixed, had a lower African background (43% vs. 78% on the genomic level and 44% vs. 76% on chromosome 11) and presented a signature of positive selection and Iberian introgression in the HbS region, driving a high differentiation of this locus between the two cohorts. The genetic structures of the SCA cohorts from Brazil and US differ considerably on the genome-wide, chromosome 11 and HbS mutation locus levels. (AU)

FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
Grantee:Fernando Ferreira Costa
Support type: Research Projects - Thematic 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 type: Scholarships in Brazil - Doctorate
FAPESP's process: 14/00984-3 - Red blood cell disorders: pathophysiology and new therapeutic approaches
Grantee:Fernando Ferreira Costa
Support type: 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 type: Regular Research 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 type: Scholarships abroad - Research Internship - Doctorate