BackgroundThe purpose of this work was to study the impact of both the size of genomic reference populations and the inclusion of a residual polygenic effect on dairy cattle genetic evaluations enhanced with genomic information.MethodsDirect genomic values were estimated for German Holstein cattle with a genomic BLUP model including a residual polygenic effect. A total of 17,429 genotyped Holstein bulls were evaluated using the phenotypes of 44 traits. The Interbull genomic validation test was implemented to investigate how the inclusion of a residual polygenic effect impacted genomic estimated breeding values.ResultsAs the number of reference bulls increased, both the variance of the estimates of single nucleotide polymorphism effects and the reliability of the direct genomic values of selection candidates increased. Fitting a residual polygenic effect in the model resulted in less biased genome-enhanced breeding values and decreased the correlation between direct genomic values and estimated breeding values of sires in the reference population.ConclusionsGenetic evaluation of dairy cattle enhanced with genomic information is highly effective in increasing reliability, as well as using large genomic reference populations. We found that fitting a residual polygenic effect reduced the bias in genome-enhanced breeding values, decreased the correlation between direct genomic values and sire's estimated breeding values and made genome-enhanced breeding values more consistent in mean and variance as is the case for pedigree-based estimated breeding values.

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A genetic evaluation system was developed for 5 fertility traits of dairy cattle: interval from first to successful insemination and nonreturn rate to 56 d of heifers, and interval from calving to first insemination, nonreturn rate to 56 d, and interval first to successful insemination of cows. Using the 2 interval traits of cows as components, breeding values for days open were derived. A multiple-trait animal model was applied to evaluate these fertility traits. Fertility traits of later lactations of cows were treated as repeated measurements. Genetic parameters were estimated by REML. Mixed model equations of the genetic evaluation model were solved with preconditioned conjugate gradients or the Gauss-Seidel algorithm and iteration on data techniques. Reliabilities of estimated breeding values were approximated with a multi-trait effective daughter contribution method. Daughter yield deviations and associated effective daughter contributions were calculated with a multiple trait approach. The genetic evaluation software was applied to the insemination data of dairy cattle breeds in Germany, Austria, and Luxembourg, and it was validated with various statistical methods. Genetic trends were validated. Small heritability estimates were obtained for all the fertility traits, ranging from 1% for nonreturn rate of heifers to 4% for interval calving to first insemination. Genetic and environmental correlations were low to moderate among the traits. Notably, unfavorable genetic trends were obtained in all the fertility traits. Moderate to high correlations were found between daughter yield-deviations and estimated breeding values (EBV) for Holstein bulls. Because of much lower heritabilities of the fertility traits, the correlations of daughter yield deviations with EBV were significantly lower than those from production traits and lower than the correlations from type traits and longevity. Fertility EBV were correlated unfavorably with EBV of milk production traits but favorably with udder health and longevity. Integrating fertility traits into a total merit selection index can halt or reverse the decline of fertility and improve the longevity of dairy cattle.

Milk composition traits exhibit a complex genetic architecture with a small number of major quantitative trait loci (QTL) explaining a large fraction of the genetic variation and numerous QTL with minor effects. In order to identify QTL for milk fat percentage (FP) in the German Holstein-Friesian (HF) population, a genome-wide association study (GWAS) was performed. The study population consisted of 2327 progeny-tested bulls. Genotypes were available for 44,280 SNPs. Phenotypes in the form of estimated breeding values (EBVs) for FP were used as highly heritable traits. A variance components-based approach was used to account for population stratification. The GWAS identified four major QTL regions explaining 46.18% of the FP EBV variance. Besides two previously known FP QTL on BTA14 (P = 8.91×10−198) and BTA20 (P = 7.03×10−12) within DGAT1 and GHR, respectively, we uncovered two additional QTL regions on BTA5 (P = 2.00×10−13) and BTA27 (P = 9.83×10−5) encompassing EPS8 and GPAT4, respectively. EPS8 and GPAT4 are involved in lipid metabolism in mammals. Re-sequencing of EPS8 and GPAT4 revealed 50 polymorphisms. Genotypes for five of them were inferred for the entire study population. Two polymorphisms affecting potential transcription factor binding sites of EPS8 (P = 1.40×10−12) and GPAT4 (P = 5.18×10−5), respectively, were highly significantly associated with the FP EBV. Our results provide evidence that alteration of regulatory sites is an important aspect of genetic variation of complex traits in cattle.

The gene, acyl-CoA:diacylglycerol acyltransferase1 (DGAT1), was recently identified as the one underlying the quantitative trait locus (QTL) for milk production traits in the centromeric region of the bovine chromosome 14. Until now, 2 alleles, the lysine variant (increasing fat yield, fat and protein percentage) and the alanine variant (increasing protein and milk yield), were postulated at DGAT1. This study investigated whether the diallelic DGAT1 polymorphism is responsible for all the genetic variation at the centromeric region of this chromosome for milk, fat, and protein yield and fat and protein percentage. A statistical model was applied to a granddaughter design to analyze 16 German Holstein families. The model included the diallelic DGAT1 effect and the QTL transition probability estimated for each chromosomal position by a multiple marker approach. Because the regression coefficient of this probability was corrected for the diallelic DGAT1 polymorphism, it represented a putative conditional QTL effect. The effect of the DGAT1 gene was always highly significant. The conditional QTL effect was significant genomewise for fat percentage at the proximal end of the chromosome and for protein percentage at a more distal chromosomal region. Additional chromosomewise significance was found for fat and protein yield. Our results suggest an additional source of genetic variance on this chromosome for these traits; either one or more additional alleles segregating at DGAT1 that were not previously detected, a second quantitative trait locus affecting these traits, or both.

Genome scans for quantitative trait loci (QTL) in farm animals have concentrated on primary production and health traits, and information on QTL for other important traits is rare. We performed a whole genome scan in a granddaughter design to detect QTL affecting body conformation and behavior in dairy cattle. The analysis included 16 paternal half-sib families of the Holstein breed with 872 sons and 264 genetic markers. The markers were distributed across all 29 autosomes and the pseudoautosomal region of the sex chromosomes with average intervals of 13.9 cM and covering an estimated 3155.5 cM. All families were analyzed jointly for 22 traits using multimarker regression and significance thresholds determined empirically by permutation. QTL that exceeded the experiment-wise significance threshold (5% level) were detected on chromosome 6 for foot angle, teat placement, and udder depth, and on chromosome 29 for temperament. QTL approaching experiment-wise significance (10% level) were located on chromosome 6 for general quality of feet and legs and general quality of udder, on chromosome 13 for teat length, on chromosome 23 for general quality of feet and legs, and on chromosome 29 for milking speed. An additional 51 QTL significant at the 5% chromosome-wise level were distributed over 21 chromosomes. This study provides the first evidence for QTL involved in behavior of dairy cattle and identifies QTL for udder conformation on chromosome 6 that could form the basis of recently reported QTL for clinical mastitis.

Statistical models were presented to estimate daily yields from either morning or evening test results. The 64,451 test-day records from 10,392 lactations of 8800 cows were available for analysis from experiments that were designed to investigate the accuracy of an alternate morning and evening four-weekly milk-testing scheme. The experiments were conducted in 152 herds from six German states and covered a span from 1994 to 1998. Milk yield, fat, and protein percentage were recorded for all of the morning and evening milkings. Seven statistical models were fitted to the data to derive formulas for estimating daily yields from morning or evening yields. In general, use of evening milkings less accurately estimated yields than did use of morning milkings. Among the three yield traits the lowest accuracy of estimation of daily yield was found for fat yield. Although the models do not differ much in the correlation between estimated and true daily yields, systematic under- and overestimation of daily yield at the beginning and end of lactation were observed in all models with the exception of model 6, which accounted for heterogeneous variances by parity class, milking interval class, and lactation stage by fitting separate regression formulas within each combination of the three factors. A study to validate the models showed that model 6 is also robust for the analyzed populations. Smoothing model 6 regression formulas across lactation stages caused a systematic pattern of estimation error, although loss in accuracy was minimal by fitting far fewer parameters in the regression formulas. Differences in the accuracy of alternate milking schemes to predict daily yields were found between traits, between morning and evening milkings, and between parity classes. Compared with true daily yields from different lactation stages, variances and correlations of the estimated yields were reduced, which must be accounted for in genetic evaluation. The use of estimated daily yields from morning or evening milkings has a smaller impact on estimated breeding values of bulls than cows. As a result of lower heritability and repeatability of estimated daily yields than true daily yields, the weight on own test-day records for estimating cows' breeding values is lower when cows are in a.m.-p.m. than conventional monthly testing schemes. However, the difference in the weights between estimated and true daily yields decreases as lactation progresses. Use of estimated daily yields is less reliable for estimating breeding value than use of true daily yields.

Test-day milk, fat, protein yield, and somatic cell score (SCS) were analyzed separately using data from the first 3 lactations and a random regression model. Data used in the model were from Austria, Germany, and Luxembourg and from Holstein, Red, and Jersey dairy cattle. For reliability approximation, a multiple-trait effective daughter contribution (MTEDC) method was developed under general multiple trait models, including random regression test-day models, by extending the single-trait daughter equivalents concept. The MTEDC was applied to the very large dairy population, with about 15.5 million animals. The calculation of reliabilities required less computer memory than the corresponding iteration program and a significantly lower computing time equivalent to 24 rounds of iteration. A formula for daughter-yield deviations was derived for bulls under multiple-trait models. Reliability associated with daughter-yield deviations was approximated using the MTEDC method. Both the daughter-yield deviation formula and associated reliability method were verified in a simulation study using the random regression test-day model. Correlations of lactation daughter-yield deviations with estimated breeding values calculated from a routine genetic evaluation were 0.996 for all bulls and 0.95 for young bulls having only daughters with short lactations.