Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows

Abstract Background Over the last decades, it was subject of many studies to investigate the genomic connection of milk production and health traits in dairy cattle. Thereby, incorporating functional information in genomic analyses has been shown to improve the understanding of biological and molecu...

Full description

Bibliographic Details
Main Authors: Helen Schneider, Ana-Marija Krizanac, Clemens Falker-Gieske, Johannes Heise, Jens Tetens, Georg Thaller, Jörn Bennewitz
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12864-024-10115-6
_version_ 1827114852084088832
author Helen Schneider
Ana-Marija Krizanac
Clemens Falker-Gieske
Johannes Heise
Jens Tetens
Georg Thaller
Jörn Bennewitz
author_facet Helen Schneider
Ana-Marija Krizanac
Clemens Falker-Gieske
Johannes Heise
Jens Tetens
Georg Thaller
Jörn Bennewitz
author_sort Helen Schneider
collection DOAJ
description Abstract Background Over the last decades, it was subject of many studies to investigate the genomic connection of milk production and health traits in dairy cattle. Thereby, incorporating functional information in genomic analyses has been shown to improve the understanding of biological and molecular mechanisms shaping complex traits and the accuracies of genomic prediction, especially in small populations and across-breed settings. Still, little is known about the contribution of different functional and evolutionary genome partitioning subsets to milk production and dairy health. Thus, we performed a uni- and a bivariate analysis of milk yield (MY) and eight health traits using a set of ~34,497 German Holstein cows with 50K chip genotypes and ~17 million imputed sequence variants divided into 27 subsets depending on their functional and evolutionary annotation. In the bivariate analysis, eight trait-combinations were observed that contrasted MY with each health trait. Two genomic relationship matrices (GRM) were included, one consisting of the 50K chip variants and one consisting of each set of subset variants, to obtain subset heritabilities and genetic correlations. In addition, 50K chip heritabilities and genetic correlations were estimated applying merely the 50K GRM. Results In general, 50K chip heritabilities were larger than the subset heritabilities. The largest heritabilities were found for MY, which was 0.4358 for the 50K and 0.2757 for the subset heritabilities. Whereas all 50K genetic correlations were negative, subset genetic correlations were both, positive and negative (ranging from -0.9324 between MY and mastitis to 0.6662 between MY and digital dermatitis). The subsets containing variants which were annotated as noncoding related, splice sites, untranslated regions, metabolic quantitative trait loci, and young variants ranked highest in terms of their contribution to the traits’ genetic variance. We were able to show that linkage disequilibrium between subset variants and adjacent variants did not cause these subsets’ high effect. Conclusion Our results confirm the connection of milk production and health traits in dairy cattle via the animals’ metabolic state. In addition, they highlight the potential of including functional information in genomic analyses, which helps to dissect the extent and direction of the observed traits’ connection in more detail.
first_indexed 2024-04-24T09:57:12Z
format Article
id doaj.art-fc91620e4f15462b92ef552461f05daf
institution Directory Open Access Journal
issn 1471-2164
language English
last_indexed 2025-03-20T12:08:27Z
publishDate 2024-03-01
publisher BMC
record_format Article
series BMC Genomics
spelling doaj.art-fc91620e4f15462b92ef552461f05daf2024-09-15T11:08:31ZengBMCBMC Genomics1471-21642024-03-0125111610.1186/s12864-024-10115-6Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cowsHelen Schneider0Ana-Marija Krizanac1Clemens Falker-Gieske2Johannes Heise3Jens Tetens4Georg Thaller5Jörn Bennewitz6Institute of Animal Science, University of HohenheimDepartment of Animal Sciences, University of GöttingenDepartment of Animal Sciences, University of GöttingenVereinigte Informationssysteme Tierhaltung w.V. (VIT)Department of Animal Sciences, University of GöttingenInstitute of Animal Breeding and Husbandry, Christian-Albrechts University of KielInstitute of Animal Science, University of HohenheimAbstract Background Over the last decades, it was subject of many studies to investigate the genomic connection of milk production and health traits in dairy cattle. Thereby, incorporating functional information in genomic analyses has been shown to improve the understanding of biological and molecular mechanisms shaping complex traits and the accuracies of genomic prediction, especially in small populations and across-breed settings. Still, little is known about the contribution of different functional and evolutionary genome partitioning subsets to milk production and dairy health. Thus, we performed a uni- and a bivariate analysis of milk yield (MY) and eight health traits using a set of ~34,497 German Holstein cows with 50K chip genotypes and ~17 million imputed sequence variants divided into 27 subsets depending on their functional and evolutionary annotation. In the bivariate analysis, eight trait-combinations were observed that contrasted MY with each health trait. Two genomic relationship matrices (GRM) were included, one consisting of the 50K chip variants and one consisting of each set of subset variants, to obtain subset heritabilities and genetic correlations. In addition, 50K chip heritabilities and genetic correlations were estimated applying merely the 50K GRM. Results In general, 50K chip heritabilities were larger than the subset heritabilities. The largest heritabilities were found for MY, which was 0.4358 for the 50K and 0.2757 for the subset heritabilities. Whereas all 50K genetic correlations were negative, subset genetic correlations were both, positive and negative (ranging from -0.9324 between MY and mastitis to 0.6662 between MY and digital dermatitis). The subsets containing variants which were annotated as noncoding related, splice sites, untranslated regions, metabolic quantitative trait loci, and young variants ranked highest in terms of their contribution to the traits’ genetic variance. We were able to show that linkage disequilibrium between subset variants and adjacent variants did not cause these subsets’ high effect. Conclusion Our results confirm the connection of milk production and health traits in dairy cattle via the animals’ metabolic state. In addition, they highlight the potential of including functional information in genomic analyses, which helps to dissect the extent and direction of the observed traits’ connection in more detail.https://doi.org/10.1186/s12864-024-10115-6Dairy cattleHealth traitsMilk productionGenomic predictionGenome annotationFunctional information
spellingShingle Helen Schneider
Ana-Marija Krizanac
Clemens Falker-Gieske
Johannes Heise
Jens Tetens
Georg Thaller
Jörn Bennewitz
Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
BMC Genomics
Dairy cattle
Health traits
Milk production
Genomic prediction
Genome annotation
Functional information
title Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
title_full Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
title_fullStr Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
title_full_unstemmed Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
title_short Genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34,497 German Holstein cows
title_sort genomic dissection of the correlation between milk yield and various health traits using functional and evolutionary information about imputed sequence variants of 34 497 german holstein cows
topic Dairy cattle
Health traits
Milk production
Genomic prediction
Genome annotation
Functional information
url https://doi.org/10.1186/s12864-024-10115-6
work_keys_str_mv AT helenschneider genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT anamarijakrizanac genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT clemensfalkergieske genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT johannesheise genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT jenstetens genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT georgthaller genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows
AT jornbennewitz genomicdissectionofthecorrelationbetweenmilkyieldandvarioushealthtraitsusingfunctionalandevolutionaryinformationaboutimputedsequencevariantsof34497germanholsteincows