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

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% o

SUBMITTER: Cruz PRS 

PROVIDER: S-EPMC6659681 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature