Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows

ABSTRACT: The objective of this study was to estimate inbreeding coefficients in Holstein dairy cattle using imputed SNPs data. A data set of 95,540 Italian Holstein dairy cows from the routine genomic evaluations of the Italian National Association of Holstein, Brown, and Jersey Breeders were analy...

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Main Authors: Christos Dadousis, Michela Ablondi, Claudio Cipolat-Gotet, Jan-Thijs van Kaam, Maurizio Marusi, Martino Cassandro, Alberto Sabbioni, Andrea Summer
Format: Article
Language:English
Published: Elsevier 2022-07-01
Series:Journal of Dairy Science
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0022030222002685
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author Christos Dadousis
Michela Ablondi
Claudio Cipolat-Gotet
Jan-Thijs van Kaam
Maurizio Marusi
Martino Cassandro
Alberto Sabbioni
Andrea Summer
author_facet Christos Dadousis
Michela Ablondi
Claudio Cipolat-Gotet
Jan-Thijs van Kaam
Maurizio Marusi
Martino Cassandro
Alberto Sabbioni
Andrea Summer
author_sort Christos Dadousis
collection DOAJ
description ABSTRACT: The objective of this study was to estimate inbreeding coefficients in Holstein dairy cattle using imputed SNPs data. A data set of 95,540 Italian Holstein dairy cows from the routine genomic evaluations of the Italian National Association of Holstein, Brown, and Jersey Breeders were analyzed, with 84,445 imputed SNP. Ten widely used genomic inbreeding estimators were tested, including 4 PLINK v1.9 estimators (F, FHAT1, FHAT2, FHAT3), 3 genomic relationship matrix (GRM)-based methods [VanRaden's first method with observed allele frequencies (FGRM) or with fixed frequencies at 0.5 (FGRM05), VanRaden's third method, allelic frequency free and pedigree regressed (FGRM2)], runs of homozygosity (ROH)-based estimators in a complete (FROH) and simplified version (FROH2), and proportion of homozygous SNP (FPH). Pairwise comparisons among them were made, including the comparison with traditional pedigree-based inbreeding coefficients (FPED). Our results showed variability among the genomic inbreeding estimators. Coefficients of FGRM and FHAT3 were >1, meaning that more variability has been lost than the variability that existed in the base population. Regarding the remaining ones, FGRM05, FROH, FROH2, and FPH provided coefficients within the [0,1] space and are considered comparable to FPED. Not comparable to FPED, yet with an interpretable value, can be considered the coefficients of F, FHAT2, and FGRM2. Estimators based on ROH had the highest correlation with pedigree-based coefficients (0.59–0.66), among all estimators tested. In this study, Spearman correlations were shown to possibly provide a clearer estimation of the strength of the relationship between estimators. We hypothesize that imputation might cause extreme genomic inbreeding values that deserves further investigation.
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spelling doaj.art-cd3807420ce94e84b5f7ad609cf2fb9f2022-12-22T00:20:46ZengElsevierJournal of Dairy Science0022-03022022-07-01105759265945Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cowsChristos Dadousis0Michela Ablondi1Claudio Cipolat-Gotet2Jan-Thijs van Kaam3Maurizio Marusi4Martino Cassandro5Alberto Sabbioni6Andrea Summer7Department of Veterinary Science, University of Parma, 43126 Parma, Italy; Corresponding authorDepartment of Veterinary Science, University of Parma, 43126 Parma, ItalyDepartment of Veterinary Science, University of Parma, 43126 Parma, ItalyAssociazione Nazionale Allevatori della Razza Frisona Bruna e Jersey Italiana, (ANAFIBJ), 26100 Cremona, ItalyAssociazione Nazionale Allevatori della Razza Frisona Bruna e Jersey Italiana, (ANAFIBJ), 26100 Cremona, ItalyAssociazione Nazionale Allevatori della Razza Frisona Bruna e Jersey Italiana, (ANAFIBJ), 26100 Cremona, Italy; Department of Agronomy, Food, Natural Resources, Animals and Environment, University of Padova, 35020 Legnaro (PD), ItalyDepartment of Veterinary Science, University of Parma, 43126 Parma, ItalyDepartment of Veterinary Science, University of Parma, 43126 Parma, ItalyABSTRACT: The objective of this study was to estimate inbreeding coefficients in Holstein dairy cattle using imputed SNPs data. A data set of 95,540 Italian Holstein dairy cows from the routine genomic evaluations of the Italian National Association of Holstein, Brown, and Jersey Breeders were analyzed, with 84,445 imputed SNP. Ten widely used genomic inbreeding estimators were tested, including 4 PLINK v1.9 estimators (F, FHAT1, FHAT2, FHAT3), 3 genomic relationship matrix (GRM)-based methods [VanRaden's first method with observed allele frequencies (FGRM) or with fixed frequencies at 0.5 (FGRM05), VanRaden's third method, allelic frequency free and pedigree regressed (FGRM2)], runs of homozygosity (ROH)-based estimators in a complete (FROH) and simplified version (FROH2), and proportion of homozygous SNP (FPH). Pairwise comparisons among them were made, including the comparison with traditional pedigree-based inbreeding coefficients (FPED). Our results showed variability among the genomic inbreeding estimators. Coefficients of FGRM and FHAT3 were >1, meaning that more variability has been lost than the variability that existed in the base population. Regarding the remaining ones, FGRM05, FROH, FROH2, and FPH provided coefficients within the [0,1] space and are considered comparable to FPED. Not comparable to FPED, yet with an interpretable value, can be considered the coefficients of F, FHAT2, and FGRM2. Estimators based on ROH had the highest correlation with pedigree-based coefficients (0.59–0.66), among all estimators tested. In this study, Spearman correlations were shown to possibly provide a clearer estimation of the strength of the relationship between estimators. We hypothesize that imputation might cause extreme genomic inbreeding values that deserves further investigation.http://www.sciencedirect.com/science/article/pii/S0022030222002685inbreedingsingle nucleotide polymorphismimputationdairy cattle
spellingShingle Christos Dadousis
Michela Ablondi
Claudio Cipolat-Gotet
Jan-Thijs van Kaam
Maurizio Marusi
Martino Cassandro
Alberto Sabbioni
Andrea Summer
Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
Journal of Dairy Science
inbreeding
single nucleotide polymorphism
imputation
dairy cattle
title Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
title_full Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
title_fullStr Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
title_full_unstemmed Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
title_short Genomic inbreeding coefficients using imputed genotypes: Assessing different estimators in Holstein-Friesian dairy cows
title_sort genomic inbreeding coefficients using imputed genotypes assessing different estimators in holstein friesian dairy cows
topic inbreeding
single nucleotide polymorphism
imputation
dairy cattle
url http://www.sciencedirect.com/science/article/pii/S0022030222002685
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