Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate

PLoS One. 2018 Apr 24;13(4):e0196360. doi: 10.1371/journal.pone.0196360. eCollection 2018.

Abstract

The analysis of genomic data (~400,000 autosomal SNPs) enabled the reliable estimation of inbreeding levels in a sample of 541 individuals sampled from a highly admixed Brazilian population isolate (an African-derived quilombo in the State of São Paulo). To achieve this, different methods were applied to the joint information of two sets of markers (one complete and another excluding loci in patent linkage disequilibrium). This strategy allowed the detection and exclusion of markers that biased the estimation of the average population inbreeding coefficient (Wright's fixation index FIS), which value was eventually estimated as around 1% using any of the methods we applied. Quilombo demographic inferences were made by analyzing the structure of runs of homozygosity (ROH), which were adapted to cope with a highly admixed population with a complex foundation history. Our results suggest that the amount of ROH <2Mb of admixed populations should be somehow proportional to the genetic contribution from each parental population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Black People / statistics & numerical data
  • Brazil / epidemiology
  • Consanguinity*
  • Female
  • Genetic Markers
  • Genetics, Population / methods*
  • Genetics, Population / statistics & numerical data*
  • Genomics / methods
  • Homozygote
  • Humans
  • Linkage Disequilibrium
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Statistics as Topic / methods

Substances

  • Genetic Markers

Grants and funding

This paper was funded by grants from Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (905629 to RBL, 1645581 to KN), Conselho Nacional de Desenvolvimento Científico e Tecnológico (870214/1997-7 to JEPC, 305888/2015 3 to DM); and Fundação de Amparo à Pesquisa do Estado de São Paulo (2011/50595-5 to LK, 12/09950-9 to KN, 12/18010-0 to DM, and CEPID Human Genome Center Project 2013/08028), all from Brazil.