ArticleScientific reports2019
Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.
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Who cites it
8 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Assessing the genetic estimates of the association between plasma caffeine and cancer risk through Mendelian randomization.European journal of nutrition · 2025Pooled it
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Genetic and Multi-Omics Insights Into Monocyte Pantothenate-Mediated Protection in Acute Respiratory Distress Syndrome.Journal of cellular and molecular medicine · 2025Article
- Article
- Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.Functional & integrative genomics · 2023Review
- Topical Vapocoolant-Associated Vaso-occlusive Event in a 10-year-old with Sickle Cell Disease.Pain management nursing : official journal of the American Society of Pain Management Nurses · 2021Article
- Genotypic Diversity among Angolan Children with Sickle Cell Anemia.International journal of environmental research and public health · 2021Article
- Article
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Authors and funding
12 authors.
Funding
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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 São 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.
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