Annals of the 16th Meeting of the Latin American Association of Biological Anthropology

ADMIXTURE PROCESS AND DEMOGRAPHIC HISTORY OF HBS MUTATION IN BRAZIL USING REDS-III COHORT

Published in 15/08/2022 - ISBN: 978-65-5941-779-7

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Paper Title
ADMIXTURE PROCESS AND DEMOGRAPHIC HISTORY OF HBS MUTATION IN BRAZIL USING REDS-III COHORT
Authors
  • Carlos Henrique Passos
  • Kelly Nunes
  • Carla Dinardo
  • Ester Cerdeira Sabino
  • Daniela de Oliveira Werneck Rodrigues
  • Dahra Teles
  • Luiz de Melo Amorim FIlho
  • Brian Custer
  • Grier Page
  • Shannon Kelly
  • Diogo Meyer
Modality
Abstract
Subject area
Genetics and Genomics
Publishing Date
15/08/2022
Country of Publishing
Brazil | Brasil
Language of Publishing
Inglês
Paper Page
https://www.even3.com.br/anais/alab2020/501678-admixture-process-and-demographic-history-of-hbs-mutation-in-brazil-using-reds-iii-cohort
ISBN
978-65-5941-779-7
Keywords
Ancestry, Demography, Admixture
Summary
Sickle cell disease (SCD) is the most prevalent monogenic disease in Brazil (~3000 births/year). It is caused by a mutation in the HBB gene (rs334 T>A; HbS) and has African origin. In Brazil, it was introduced in the 16th century, when Africans were forcibly brought for slavery. Since then, due to admixture of Africans with European colonizers and Native Americans, this mutation has recombined into a wide diversity of genomic backgrounds, and is no longer restricted to genomes of African ancestry. Our study addresses the evolutionary history of this mutation in Brazil, and how its genomic context has changed over time. We analyzed Whole-Genome Sequencing data from a cohort of 2793 individuals with SCD (REDS-III), from six blood centers in Brazil (HBH, JFO, MOC, ITACI, Hemope and Hemorio). Ancestries were estimated using RFMix. For chromosome 11, we quantified the African ancestry (HBH: 0.517, JFO: 0.601, MOC: 0.483, ITACI: 0.441, Hemope: 0.445, Hemorio: 0.565) and the size of a block of exclusively African ancestry encompassing the HbS mutation (306kb to 134Mb, MOC having the lowest mean block size (10Mb), and JFO the highest (25Mb)). Using genomewide data, we show that in blood centers with higher African ancestry the size of the block of exclusively African ancestry encompassing HbS is largest. Our study will aid interpretations of clinical variability in SCD, by quantifying the degree of variability in the local and genomewide ancestry of individuals carrying HbS.
Title of the Event
16th Meeting of the Latin American Association of Biological Anthropology
City of the Event
São Paulo
Title of the Proceedings of the event
Annals of the 16th Meeting of the Latin American Association of Biological Anthropology
Name of the Publisher
Even3
Means of Dissemination
Meio Digital

How to cite

PASSOS, Carlos Henrique et al.. ADMIXTURE PROCESS AND DEMOGRAPHIC HISTORY OF HBS MUTATION IN BRAZIL USING REDS-III COHORT.. In: . Available in: https//www.even3.com.br/anais/alab2020/501678-ADMIXTURE-PROCESS-AND-DEMOGRAPHIC-HISTORY-OF-HBS-MUTATION-IN-BRAZIL-USING-REDS-III-COHORT. Access in: 30/04/2025

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