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Type: Artigo
Title: Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence
Author: Cruz, Pedro R. S.
Ananina, Galina
Gil-da-Silva-Lopes, Vera Lucia
Simioni, Milena
Menaa, Farid
Bezerra, Marcos A. C.
Domingos, Igor F.
Araujo, Aderson S.
Pellegrino, Renata
Hakonarson, Hakon
Costa, Fernando F.
Melo, Monica Barbosa de
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
Subject: Anemia falciforme
Country: Reino Unido
Editor: Nature Publishing Group
Rights: Aberto
Identifier DOI: 10.1038/s41598-019-47313-2
Date Issue: 2019
Appears in Collections:FCM - Artigos e Outros Documentos
CBMEG - Artigos e Outros Documentos

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