Population size in QTL detection using quantile regression in genome-wide association studies

Abstract The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simula...

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Main Authors: Gabriela França Oliveira, Ana Carolina Campana Nascimento, Camila Ferreira Azevedo, Maurício de Oliveira Celeri, Laís Mayara Azevedo Barroso, Isabela de Castro Sant’Anna, José Marcelo Soriano Viana, Marcos Deon Vilela de Resende, Moysés Nascimento
Format: Article
Language:English
Published: Nature Portfolio 2023-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-36730-z
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author Gabriela França Oliveira
Ana Carolina Campana Nascimento
Camila Ferreira Azevedo
Maurício de Oliveira Celeri
Laís Mayara Azevedo Barroso
Isabela de Castro Sant’Anna
José Marcelo Soriano Viana
Marcos Deon Vilela de Resende
Moysés Nascimento
author_facet Gabriela França Oliveira
Ana Carolina Campana Nascimento
Camila Ferreira Azevedo
Maurício de Oliveira Celeri
Laís Mayara Azevedo Barroso
Isabela de Castro Sant’Anna
José Marcelo Soriano Viana
Marcos Deon Vilela de Resende
Moysés Nascimento
author_sort Gabriela França Oliveira
collection DOAJ
description Abstract The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data was used, with traits of different levels of heritability (0.30 and 0.50), and controlled by 3 and 100 QTLs. Populations of 1,000 to 200 individuals were defined, with a random reduction of 100 individuals for each population. The power of detection of QTLs and the false positive rate were obtained by means of QR considering three different quantiles (0.10, 0.50 and 0.90) and also by means of the General Linear Model (GLM). In general, it was observed that the QR models showed greater power of detection of QTLs in all scenarios evaluated and a relatively low false positive rate in scenarios with a greater number of individuals. The models with the highest detection power of true QTLs at the extreme quantils (0.10 and 0.90) were the ones with the highest detection power of true QTLs. In contrast, the analysis based on the GLM detected few (scenarios with larger population size) or no QTLs in the evaluated scenarios. In the scenarios with low heritability, QR obtained a high detection power. Thus, it was verified that the use of QR in GWAS is effective, allowing the detection of QTLs associated with traits of interest even in scenarios with few genotyped and phenotyped individuals.
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spelling doaj.art-c8f503afa7e047199e44ff82de5f7c2c2023-06-18T11:14:46ZengNature PortfolioScientific Reports2045-23222023-06-0113111010.1038/s41598-023-36730-zPopulation size in QTL detection using quantile regression in genome-wide association studiesGabriela França Oliveira0Ana Carolina Campana Nascimento1Camila Ferreira Azevedo2Maurício de Oliveira Celeri3Laís Mayara Azevedo Barroso4Isabela de Castro Sant’Anna5José Marcelo Soriano Viana6Marcos Deon Vilela de Resende7Moysés Nascimento8Department of Statistics, Federal University of ViçosaDepartment of Statistics, Federal University of ViçosaDepartment of Statistics, Federal University of ViçosaDepartment of Statistics, Federal University of ViçosaFederal Institute of Education, Science and Technology of Mato GrossoRubber Tree and Agroforestry Systems Research Center, Campinas Agronomy Institute (IAC)Department of General Biology, Federal University of ViçosaBrazilian Agricultural Research Corporation, Embrapa CoffeeDepartment of Statistics, Federal University of ViçosaAbstract The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data was used, with traits of different levels of heritability (0.30 and 0.50), and controlled by 3 and 100 QTLs. Populations of 1,000 to 200 individuals were defined, with a random reduction of 100 individuals for each population. The power of detection of QTLs and the false positive rate were obtained by means of QR considering three different quantiles (0.10, 0.50 and 0.90) and also by means of the General Linear Model (GLM). In general, it was observed that the QR models showed greater power of detection of QTLs in all scenarios evaluated and a relatively low false positive rate in scenarios with a greater number of individuals. The models with the highest detection power of true QTLs at the extreme quantils (0.10 and 0.90) were the ones with the highest detection power of true QTLs. In contrast, the analysis based on the GLM detected few (scenarios with larger population size) or no QTLs in the evaluated scenarios. In the scenarios with low heritability, QR obtained a high detection power. Thus, it was verified that the use of QR in GWAS is effective, allowing the detection of QTLs associated with traits of interest even in scenarios with few genotyped and phenotyped individuals.https://doi.org/10.1038/s41598-023-36730-z
spellingShingle Gabriela França Oliveira
Ana Carolina Campana Nascimento
Camila Ferreira Azevedo
Maurício de Oliveira Celeri
Laís Mayara Azevedo Barroso
Isabela de Castro Sant’Anna
José Marcelo Soriano Viana
Marcos Deon Vilela de Resende
Moysés Nascimento
Population size in QTL detection using quantile regression in genome-wide association studies
Scientific Reports
title Population size in QTL detection using quantile regression in genome-wide association studies
title_full Population size in QTL detection using quantile regression in genome-wide association studies
title_fullStr Population size in QTL detection using quantile regression in genome-wide association studies
title_full_unstemmed Population size in QTL detection using quantile regression in genome-wide association studies
title_short Population size in QTL detection using quantile regression in genome-wide association studies
title_sort population size in qtl detection using quantile regression in genome wide association studies
url https://doi.org/10.1038/s41598-023-36730-z
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