Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions

Detalhes bibliográficos
Autor(a) principal: Dauria, Brayan Dias
Data de Publicação: 2021
Tipo de documento: Tese
Idioma: eng
Título da fonte: Biblioteca Digital de Teses e Dissertações da USP
Texto Completo: https://www.teses.usp.br/teses/disponiveis/11/11139/tde-25052021-133628/
Resumo: The bovine milk fatty acid (FA) profile is one of the most complex and unique among terrestrial mammals. Its composition is extremely variable and depends on factors such as the source of the diet, the physiological state of the animal, and a fraction attributed to the genetic component. FA is mainly synthesized by the new synthesis that occurs in the mammary gland or derived from the ruminal biohydrogenation process. Recently, efforts have been made in an attempt to elucidate the main mechanisms associated with their metabolic pathways. In addition, the FA profile has been investigated as a biomarker for heat stress due to the great influence of diet on its composition. Most of these studies are carried out by analyzing genetic parameter estimation, genome-wide association study (GWAS), and in a complementary tool with enrichment analysis. However, little has been explored on approaches that can assess quantitative characteristics in a multivariate method. In this context, two studies were conducted using different strategies and objectives. The objective of this study was to estimate the genetic parameters for FA under conditions of thermal stress (decline) and without thermal stress (intercept), subsequently to compare genomic values between rankings (intercept and decline). Records of test-day milk of 7 FA (saturated FA - SFA, unsaturated FA - UFA, monounsaturated fatty acid - MUFA, polyunsaturated FA - PUFA, palmitic FA - C16:0, oleic FA - C18:0, and stearic FA - C18:1) were used in genetic analysis. The components of variance were obtained using a repeatability model with random regression of a THI function (temperature and humidity index). Saturated FA (saturated and C16:0) showed lower estimates of heritability under thermal stress conditions. C18:1 showed greater sensitivity to heat under conditions of thermal stress. Correlations between the rankings of genomic genetic values ranged from -0.27 to 0.99. Our results demonstrated an opportunity to investigate new biomarkers and improve selection processes for thermotolerance. In experiment 2, the objective was to adjust latent variables (unobservable variable) and predict factor scores to use them as a phenotype in the estimation of genetic parameters, GWAS, and enrichment analysis. The adjustments were obtained through confirmatory factor analysis (multivariate method) whose main objective is to reduce the size of the data. The set of observable variables that obtained the best fit in the model were SAT, POLI, C18: 0, and C18:1. These variables were combined into a factor that represented 3 stages of lactation (40-60; 160-180; 250-270), based on fixed intervals in days in milk (DIM) and later, were merged to represent lactation order (1 to 3) used in genetic analysis. The heritability estimates for latent variables were low (0.07 to 0.11). From the GWAS results, 11 candidate genes (PLD1, TM6SF2, NUDT7, LIPT1, AKPA1, APOH, RPGRIP1L, FTO, GMDS, ALDH3B1, and PC) were located on 9 chromosomes, mostly including genes that have not yet been discussed in the literature. In the enrichment analysis, functional terms were revealed including fatty acid synthesis, triacylglycerol synthesis, and lipid and lipoprotein metabolism. Overall, our study contributed as a design for further studies and to improve the knowledge base on the genetic mechanisms underlying the composition of FA.
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spelling Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditionsAnálise fatorial confirmatória e genômica do perfil de ácidos graxos do leite em bovinos leiteiros criados em condições tropicaisÁcidos graxosBovinos leiteirosDairy cattleEstresse térmicoFatty acidsHeat stressLatent variableVariável latenteThe bovine milk fatty acid (FA) profile is one of the most complex and unique among terrestrial mammals. Its composition is extremely variable and depends on factors such as the source of the diet, the physiological state of the animal, and a fraction attributed to the genetic component. FA is mainly synthesized by the new synthesis that occurs in the mammary gland or derived from the ruminal biohydrogenation process. Recently, efforts have been made in an attempt to elucidate the main mechanisms associated with their metabolic pathways. In addition, the FA profile has been investigated as a biomarker for heat stress due to the great influence of diet on its composition. Most of these studies are carried out by analyzing genetic parameter estimation, genome-wide association study (GWAS), and in a complementary tool with enrichment analysis. However, little has been explored on approaches that can assess quantitative characteristics in a multivariate method. In this context, two studies were conducted using different strategies and objectives. The objective of this study was to estimate the genetic parameters for FA under conditions of thermal stress (decline) and without thermal stress (intercept), subsequently to compare genomic values between rankings (intercept and decline). Records of test-day milk of 7 FA (saturated FA - SFA, unsaturated FA - UFA, monounsaturated fatty acid - MUFA, polyunsaturated FA - PUFA, palmitic FA - C16:0, oleic FA - C18:0, and stearic FA - C18:1) were used in genetic analysis. The components of variance were obtained using a repeatability model with random regression of a THI function (temperature and humidity index). Saturated FA (saturated and C16:0) showed lower estimates of heritability under thermal stress conditions. C18:1 showed greater sensitivity to heat under conditions of thermal stress. Correlations between the rankings of genomic genetic values ranged from -0.27 to 0.99. Our results demonstrated an opportunity to investigate new biomarkers and improve selection processes for thermotolerance. In experiment 2, the objective was to adjust latent variables (unobservable variable) and predict factor scores to use them as a phenotype in the estimation of genetic parameters, GWAS, and enrichment analysis. The adjustments were obtained through confirmatory factor analysis (multivariate method) whose main objective is to reduce the size of the data. The set of observable variables that obtained the best fit in the model were SAT, POLI, C18: 0, and C18:1. These variables were combined into a factor that represented 3 stages of lactation (40-60; 160-180; 250-270), based on fixed intervals in days in milk (DIM) and later, were merged to represent lactation order (1 to 3) used in genetic analysis. The heritability estimates for latent variables were low (0.07 to 0.11). From the GWAS results, 11 candidate genes (PLD1, TM6SF2, NUDT7, LIPT1, AKPA1, APOH, RPGRIP1L, FTO, GMDS, ALDH3B1, and PC) were located on 9 chromosomes, mostly including genes that have not yet been discussed in the literature. In the enrichment analysis, functional terms were revealed including fatty acid synthesis, triacylglycerol synthesis, and lipid and lipoprotein metabolism. Overall, our study contributed as a design for further studies and to improve the knowledge base on the genetic mechanisms underlying the composition of FA.O perfil de ácidos graxos do leite (AGL) bovino é um dos mais complexos e únicos entre mamíferos terrestres. A sua composição é extremamente variável e dependente de fatores como fonte da dieta, estado fisiológico do animal e uma fração atribuída ao componente genético. AGL são principalmente sintetizados pela de novo síntese que ocorre na glândula mamária ou derivados do processo de biohidrogrenação ruminal. Recentemente, esforços têm sido realizados na tentativa de elucidar os principais mecanismos associados às suas vias metabólicas. Além disso, o perfil de AGL tem sido investigado como biomarcador para o estresse térmico devido a grande influência da dieta na sua composição. Esses estudos são realizados na sua maioria pela análise de estimação de parâmetros genéticos, associação genômica ampla (GWAS) e de forma complementar com análise de enriquecimento. No entanto, pouco ainda tem sido explorado sobre abordagens que possam avaliar características quantitativas de forma multivariada. Neste contexto, foram conduzidos dois estudos utilizando estratégias e objetivos diferentes. Objetivou-se, no 1 estudo, estimar os parâmetros genéticos para AGL sob condições de estresse térmico (declínio) e sem estresse térmico (intercepto), posteriormente, comparar valores genômicos entre rankings (intercepto e declínio). Dados de produção de 7 AGL (AGL saturado - SAT, ALG insaturado - INSAT, ácido graxo monoinsaturado - MONO, AGL poliinsaturado - POLI, AGL palmítico - C16:0, AGL oleico - C18:0, e AGL esteárico - C18:1) foram utilizados nas análises genéticas. Os componentes de variância foram obtidos por meio de um modelo de repetibilidade com regressão aleatória de uma função de THI (índice de temperatura e umidade). AGL saturados (saturado e C16:0) apresentaram menores estimativas de herdabilidade sobre condições de estresse térmico. C18:1 apresentou maior sensibilidade ao calor em condições de estresse térmico. Correlações entre os rankings de valores genéticos gnômicos variaram entre -0.27 a 0.99. Nossos resultados demonstraram uma oportunidade para investigar novos biomarcadores e melhorar os processos seletivos para termotolerância. No experimento 2, objetivou-se ajustar variáveis latentes (variável não observável) e predizer fator scores para utilizá-las como fenótipo na estimação de parâmetros genéticos, GWAS e análise de enriquecimento. Os ajustes foram obtidos por meio de uma análise fatorial confirmatória (método multivariado) que tem como principal objetivo reduzir a dimensão dos dados. O conjunto de variáveis observáveis que obtiveram melhor ajuste no modelo foram SAT, POLI, C18:0 e C18:1. Essas variáveis foram combinadas em um fator que representou 3 estágios de lactação (início: 40-60; meio: 160-180; final: 250- 270), baseados em intervalos fixos em dias em lactação (DEL) e posteriormente, foram combinadas para representar ordens de parto (1-3) utilizadas nas análises genéticas. As estimativas de herdabilidades para variáveis latentes foram de baixa magnitude (0,07 a 0,11). Dos resultados de GWAS, 11 genes candidatos genes (PLD1, TM6SF2, NUDT7, LIPT1, AKPA1, APOH, RPGRIP1L, FTO, GMDS, ALDH3B1, e PC) foram localizados em 9 cromossomos, incluindo na sua maioria genes que ainda não foram discutidos na literatura. Na análise de enriquecimento, foram revelados termos funcionais incluindo síntese de ácidos graxos, síntese do triglicerol e metabolismo de lipídeos e lipoproteínas. No geral, nosso estudo contribuiu como molde para novos estudos e para melhorar a base de conhecimento sobre os mecanismos genéticos subjacente à composição de AGL.Biblioteca Digitais de Teses e Dissertações da USPMourão, Gerson BarretoDauria, Brayan Dias2021-02-26info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/doctoralThesisapplication/pdfhttps://www.teses.usp.br/teses/disponiveis/11/11139/tde-25052021-133628/reponame:Biblioteca Digital de Teses e Dissertações da USPinstname:Universidade de São Paulo (USP)instacron:USPLiberar o conteúdo para acesso público.info:eu-repo/semantics/openAccesseng2021-05-27T17:15:02Zoai:teses.usp.br:tde-25052021-133628Biblioteca Digital de Teses e Dissertaçõeshttp://www.teses.usp.br/PUBhttp://www.teses.usp.br/cgi-bin/mtd2br.plvirginia@if.usp.br|| atendimento@aguia.usp.br||virginia@if.usp.bropendoar:27212021-05-27T17:15:02Biblioteca Digital de Teses e Dissertações da USP - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
Análise fatorial confirmatória e genômica do perfil de ácidos graxos do leite em bovinos leiteiros criados em condições tropicais
title Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
spellingShingle Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
Dauria, Brayan Dias
Ácidos graxos
Bovinos leiteiros
Dairy cattle
Estresse térmico
Fatty acids
Heat stress
Latent variable
Variável latente
title_short Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
title_full Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
title_fullStr Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
title_full_unstemmed Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
title_sort Genomic confirmatory factor analysis on milk fatty acid profile in dairy cattle reared in tropical conditions
author Dauria, Brayan Dias
author_facet Dauria, Brayan Dias
author_role author
dc.contributor.none.fl_str_mv Mourão, Gerson Barreto
dc.contributor.author.fl_str_mv Dauria, Brayan Dias
dc.subject.por.fl_str_mv Ácidos graxos
Bovinos leiteiros
Dairy cattle
Estresse térmico
Fatty acids
Heat stress
Latent variable
Variável latente
topic Ácidos graxos
Bovinos leiteiros
Dairy cattle
Estresse térmico
Fatty acids
Heat stress
Latent variable
Variável latente
description The bovine milk fatty acid (FA) profile is one of the most complex and unique among terrestrial mammals. Its composition is extremely variable and depends on factors such as the source of the diet, the physiological state of the animal, and a fraction attributed to the genetic component. FA is mainly synthesized by the new synthesis that occurs in the mammary gland or derived from the ruminal biohydrogenation process. Recently, efforts have been made in an attempt to elucidate the main mechanisms associated with their metabolic pathways. In addition, the FA profile has been investigated as a biomarker for heat stress due to the great influence of diet on its composition. Most of these studies are carried out by analyzing genetic parameter estimation, genome-wide association study (GWAS), and in a complementary tool with enrichment analysis. However, little has been explored on approaches that can assess quantitative characteristics in a multivariate method. In this context, two studies were conducted using different strategies and objectives. The objective of this study was to estimate the genetic parameters for FA under conditions of thermal stress (decline) and without thermal stress (intercept), subsequently to compare genomic values between rankings (intercept and decline). Records of test-day milk of 7 FA (saturated FA - SFA, unsaturated FA - UFA, monounsaturated fatty acid - MUFA, polyunsaturated FA - PUFA, palmitic FA - C16:0, oleic FA - C18:0, and stearic FA - C18:1) were used in genetic analysis. The components of variance were obtained using a repeatability model with random regression of a THI function (temperature and humidity index). Saturated FA (saturated and C16:0) showed lower estimates of heritability under thermal stress conditions. C18:1 showed greater sensitivity to heat under conditions of thermal stress. Correlations between the rankings of genomic genetic values ranged from -0.27 to 0.99. Our results demonstrated an opportunity to investigate new biomarkers and improve selection processes for thermotolerance. In experiment 2, the objective was to adjust latent variables (unobservable variable) and predict factor scores to use them as a phenotype in the estimation of genetic parameters, GWAS, and enrichment analysis. The adjustments were obtained through confirmatory factor analysis (multivariate method) whose main objective is to reduce the size of the data. The set of observable variables that obtained the best fit in the model were SAT, POLI, C18: 0, and C18:1. These variables were combined into a factor that represented 3 stages of lactation (40-60; 160-180; 250-270), based on fixed intervals in days in milk (DIM) and later, were merged to represent lactation order (1 to 3) used in genetic analysis. The heritability estimates for latent variables were low (0.07 to 0.11). From the GWAS results, 11 candidate genes (PLD1, TM6SF2, NUDT7, LIPT1, AKPA1, APOH, RPGRIP1L, FTO, GMDS, ALDH3B1, and PC) were located on 9 chromosomes, mostly including genes that have not yet been discussed in the literature. In the enrichment analysis, functional terms were revealed including fatty acid synthesis, triacylglycerol synthesis, and lipid and lipoprotein metabolism. Overall, our study contributed as a design for further studies and to improve the knowledge base on the genetic mechanisms underlying the composition of FA.
publishDate 2021
dc.date.none.fl_str_mv 2021-02-26
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.language.iso.fl_str_mv eng
language eng
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dc.rights.driver.fl_str_mv Liberar o conteúdo para acesso público.
info:eu-repo/semantics/openAccess
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reponame:Biblioteca Digital de Teses e Dissertações da USP
instname:Universidade de São Paulo (USP)
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instname_str Universidade de São Paulo (USP)
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reponame_str Biblioteca Digital de Teses e Dissertações da USP
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