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Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome‐wide Human Array
Author(s) -
Barbosa Fernanda B.,
Cagnin Natalia F.,
Simioni Milena,
Farias Allysson A.,
Torres Fábio R.,
Molck Miriam C.,
Araujo Tânia K.,
GilDaSilvaLopes Vera L.,
Donadi Eduardo A.,
Simões Aguinaldo L.
Publication year - 2017
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12208
Subject(s) - population stratification , ancestry informative marker , single nucleotide polymorphism , snp , spurious relationship , genetic association , population , biology , genetics , genome wide association study , snp array , evolutionary biology , genotype , gene , medicine , statistics , mathematics , environmental health
Summary Case‐control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case‐control study performed using a genome‐wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations. These SNP‐AIMs were used to infer ancestry in systemic lupus erythematosus (SLE) patients ( n = 23) and in healthy subjects ( n = 110). Moderate population substructure was observed between SLE and control groups ( F st = 0.0113). Although patients and controls have shown a major European genomic contribution, significant differences in the European ( P = 6.47 × 10 −5 ) and African ( P = 1.14 × 10 −3 ) ancestries were detected between the two groups. We performed a two‐step validation of the 345 SNP‐AIMs panel estimating the ancestral contributions using a panel of 12 AIMs and approximately 70K SNPs from the array. Evaluation of population substructure in case‐control studies, avoiding spurious genetic associations, can be performed using our panel of 345 SNP‐AIMs.