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Gredler-Grandl, B.

Publications and source records attributed to Gredler-Grandl, B..

2 recordsLinked to original sources

Characterization of a novel heat tolerance trait and subsequent haplotype block-based analysis to identify causal regions in Dutch Holstein cattle

Heat stress is a major environmental challenge affecting dairy cattle, leading to behavioral changes, production losses, and welfare concerns. As heat stress events intensify and become more frequent due to climate change, identifying heat tolerant animals is crucial for sustainable dairy production. This study develops a pipeline to quantify the population-wise impact of heat stress on a dairy cattle population and subsequently defines individual-based heat tolerance traits. Data from 677,318 Dutch Holstein cows, including 15.6 million mid-infrared spectra and 762 million records from automated milking systems, were analyzed. An iterative approach using kernel regression was employed to estimate the population-wise effects of heat stress. Results indicate that fat and protein percentages decrease approximately linearly with increasing temperature humidity index (THI) with an absolute reduction of 0.3% from THI = 30 to THI = 70. In contrast, milk yield remains stable until a THI of 60, after which production losses increase quadratically reaching 5.0% at a THI of 75. The phenotype of an animal is subsequently defined as the slope in a linear regression model of the residuals of the population-wise models against THI for milk yield and concentration of fat, protein, lactose, and specific fatty acids. Compared to reaction-norm models, individual records per cow are combined before model fitting, thereby reducing computation times and allowing more flexibility in the design of the model. Heritabilities for heat tolerance traits ranged from 0.05 to 0.12, and genetic variances indicate substantial potential for breeding as an improvement of the population by one genetic standard deviation would already offset 69% of the losses in fat percentage, 65% in protein percentage, and 11% in milk yield. Heat tolerance based on milk yield showed favorable correlations with most commercial traits, whereas heat tolerance based on fat and protein percentage showed negative correlations to health and resilience. A genome-wide association study using both SNPs and haplotype blocks from the software HaploBlocker identified potential QTLs across the genome, with particularly strong signals on BTA5, 14, and 20. These findings support the potential of breeding for heat tolerance but highlight the need for complementary management strategies to mitigate heat stress impacts. Interpretive summaryThis study introduced a novel, computationally efficient method to quantify the impact of heat stress in dairy cattle and define novel heat tolerance traits based on milk production data from automated milking systems. Our results indicate quadratically increasing losses in milk yield with increasing heat load. The identified heat tolerance traits show substantial genetic variance, moderate heritabilities, and favorable correlation to key production traits. These findings highlight the potential for incorporating heat tolerance into dairy breeding goals to mitigate climate change impacts, improve animal welfare, and enhance sustainable milk production.

genetics↗

Meta-Analysis Of Sequence-Based Association Studies Across Three Cattle Breeds Reveals 25 QTL For Fat And Protein Percentages In Milk At Nucleotide Resolution

BackgroundGenotyping and whole-genome sequencing data have been collected in many cattle breeds. The compilation of large reference panels facilitates imputing sequence variant genotypes for animals that have been genotyped using dense genotyping arrays. Association studies with imputed sequence variant genotypes allow characterization of quantitative trait loci (QTL) at nucleotide resolution particularly when individuals from several breeds are included in the mapping populations.\n\nResultsWe imputed genotypes for more than 28 million sequence variants in 17,229 animals of the Braunvieh (BV), Fleckvieh (FV) and Holstein (HOL) cattle breeds in order to generate large mapping populations that are required to identify sequence variants underlying milk production traits. Within-breed association tests between imputed sequence variant genotypes and fat and protein percentages in milk uncovered between six and thirteen QTL (P<1e-8) per breed. Eight of the detected QTL were significant in more than one breed. We combined the association studies across three breeds using meta-analysis and identified 25 QTL including six that were not significant in the within-breed association studies. Closer inspection of the QTL revealed that two well-known causal missense mutations in the ABCG2 (p.Y581S, rs43702337, P=4.3e-34) and GHR (p.F279Y, rs385640152, P=1.6e-74) genes were the top variants at two QTL on chromosomes 6 and 20. Another true causal missense mutation in the DGAT1 gene (p.A232K, rs109326954, P=8.4e-1436) was the second top variant at a QTL on chromosome 14 but its allelic substitution effects were not consistent across three breeds analyzed. It turned out that the conflicting allelic substitution effects resulted from flaws in the imputed genotypes due to the use of a multi-breed reference population for genotype imputation.\n\nConclusionsMany QTL for milk production traits segregate across breeds. Metaanalysis of association studies across breeds has greater power to detect such QTL than within-breed association studies. True causal mutations can be readily detected among the most significantly associated variants at QTL when the accuracy of imputation is high. However, true causal mutations may show conflicting allelic substitution effects across breeds when the imputed sequence variant genotypes contain flaws. Validating the effect of known causal variants is highly recommended in order to assess the ability to detect true causal mutations in association studies with imputed sequence variant genotypes.

genomics↗