Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array

Autor(es)

Barbosa, Fernanda B. ^[1] ; Cagnin, Natalia F. ^[1] ; Simioni, Milena ^[2] ; Farias, Allysson A. ^[3] ; Torres, Fabio R. ^[2] ; Molck, Miriam C. ^[2] ; Araujo, Tania K. ^[2] ; Gil-Da-Silva-Lopes, Vera L. ^[2] ; Donadi, Eduardo A. ^[4] ; Simoes, Aguinaldo L. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Genet, Ave Bandeirantes 3900, BR-14090190 Ribeirao Preto, SP - Brazil

^[2] Univ Estadual Campinas, Dept Med Genet, Fac Med Sci, Campinas, SP - Brazil

^[3] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo - Brazil

^[4] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med, Div Clin Immunol, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ANNALS OF HUMAN GENETICS; v. 81, n. 6, p. 225-233, NOV 2017.
• Citações Web of Science: 8

Resumo

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 x 10(-5)) and African (P = 1.14 x 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. (AU)

• Processo FAPESP: 11/23794-7 - Abordagem investigativa em fendas labiopalatais e cardiopatias congênitas relacionadas à síndrome de deleção 22q11.2 por meio das técnicas de open array e aGH
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 13/17062-9 - Análise de CNVs em pacientes com Lúpus Eritematoso Sistêmico
• Beneficiário: Fernanda Bueno Barbosa
• Modalidade de apoio: Bolsas no Brasil - Doutorado