Agouti and Extension loci control the relative amount of eumelanin and pheomelanin production in melanocytes that, in turn, affects pigmentation of skin and hair. The Extension locus encodes the melanocortin 1 receptor (MC1R) whose permanent activation, caused by functional mutations, results in black coat colour, whereas other inactivating mutations cause red coat colour in different mammals.

Mastitis is an infectious disease affecting the mammary gland, leading to inflammatory reactions and to heavy economic losses due to milk production decrease. One possible way to tackle the antimicrobial resistance issue stemming from antimicrobial therapy is to select animals with a genetic resistance to this disease. Therefore, aim of this study was to analyze the genetic variability of the SNPs found in candidate genes related to mastitis resistance in Holstein Friesian bulls. Target regions were amplified, sequenced by Next-Generation Sequencing technology on the Illumina^® MiSeq, and then analyzed to find correlation with mastitis related phenotypes in 95 Italian Holstein bulls chosen with the aid of a selective genotyping approach. On a total of 557 detected mutations, 61 showed different genotype distribution in the tails of the deregressed EBVs for SCS and 15 were identified as significantly associated with the phenotype using two different approaches. The significant SNPs were identified in intergenic or intronic regions of six genes, known to be key components in the immune system (namely CXCR1, DCK, NOD2, MBL2, MBL1 and M-SAA3.2). These SNPs could be considered as candidates for a future genetic selection for mastitis resistance, although further studies are required to assess their presence in other dairy cattle breeds and their possible negative correlation with other traits.

Gestation length (GL) can potentially affect health and performance of both the dam and the newborn calf, and it is controlled by two genetic components, direct and maternal. This means that both the calf (direct effect) and the cow (maternal effect) genotypes contribute to determine GL and its variability. The aims of the present study were to estimate direct and maternal variance components of GL, develop a routine genetic evaluation of GL in Italian Holstein and evaluate potential (un)favourable associations with traits for which selection is undertaken in this population. A multiple‐trait repeatability linear animal model was employed for the estimation of variance components considering GL in first and later parities as different traits. The posterior mean (PM) of heritability of the direct effect was 0.43 for first parity and 0.35 for later parities. The PM of heritability of the maternal effect was lower, being 0.08 for primiparae and 0.06 for pluriparae. The posterior standard deviation (PSD) of the heritability estimates was small, ranging from 0.001 to 0.005. The relationship of direct and maternal effects with important traits such as milk yield and fertility indicated that selecting for extreme GL, longer or shorter, may have negative consequences on several traits, suggesting that GL has an intermediate optimum in dairy cattle. In conclusion, this study reveals that selecting an intermediate GL in the Italian Holstein population is advisable. Although scarcely variable compared to other conventional traits for which Italian Holstein is selected, GL is heritable and a deeper knowledge can be useful for decision‐making at the farm level.

Livestock farming is directly responsible for greenhouse gas (GHG) emissions, mainly due to enteric fermentation. Feed efficiency in livestock species is generally evaluated through feed conversion ratio (FCR) and residual feed intake (RFI), which are associated to GHG emissions. The aim of this study was to characterise FCR and RFI in relation to body traits, feed intake, feeding behaviour and GHG emissions of Holstein bulls. Data were collected between May 2018 and July 2020 on 111 animals. Pearson correlations between studied traits were estimated on the residuals obtained from a linear mixed model which included the fixed effect of the linear covariate of age of bull on the dependent variable and the random effect of the bull. To assess the effect of RFI and FCR the same linear mixed model was implemented firstly by including the fixed effect of RFI (2 classes) and secondly the fixed effect of FCR (2 classes). Correlations between dry matter intake (DMI) and GHG ranged from 0.25 (CH₄) to 0.36 (CO₂). The strongest relationship was estimated between feed efficiency traits and DMI (0.86). RFI and FCR showed weak to moderate correlations with GHG (0.12–0.31). Animals belonging to the low classes of RFI and FCR had lower DMI and showed significant reduction of GHG emissions. Results of the present study highlighted significant differences in terms of feed efficiency and GHG emissions among tested animals; further research is needed on their progeny to investigate the genetic background of the same efficiency and emission-related traits.

This study aimed to investigate the genetic and putative causal relationships between fertility traits [i.e., days open (DO) and calving rate (CR)] and milk quality, composition, and fatty acid contents (milk composition traits) in Holstein-Friesian, Brown Swiss, and Simmental cattle, using recursive models within a Bayesian framework. Trivariate animal models were run, each including one fertility trait, one milk composition trait, and, in all models, milk yield. The DO and CR data were merged with the test days closest to the insemination date for milk composition traits. After editing, 16,468 to 23,424 records for Holstein-Friesian, 23,424 to 46,660 for Brown Swiss, and 26,105 to 35,574 for Simmental were available for the analyses. Recursive animal models were applied to investigate the possible causal influences of milk composition traits on fertility and the genetic relationships among these traits. The results suggested a potential cause-and-effect relationship between milk composition traits and fertility traits, with the first trait influencing the latter. We also found greater recursive effects of milk composition traits on DO than on CR, the latter with some putative differences among breeds in terms of sensitivity. For instance, the putative causal effects of somatic cell score on CR (on the observed scale, %) varied from -0.96 to -1.39%, depending on the breed. Concerning fatty acids, we found relevant putative effects of C18:0 on CR, with estimates varying from -7.8 to -9.9%. Protein and casein percentages, and short-chain fatty acid showed larger recursive effects on CR, whereas fat, protein, and casein percentages, C16:0, C18:0, and long-chain fatty acid had larger effects on DO. The results obtained suggested that these milk traits could be considered as effective indicators of the effects of animal metabolic and physiological status on fertility.

Twinning is undesirable in dairy cattle since it is associated with higher risk of abortion, calving difficulty, and metabolic and reproductive issues. Moreover, twin calves are lighter at birth and generally have lower survival rate. As a result, twinning leads to significant economic losses for the farmer. In the current study, genetic variance and h² of twinning rate (TR) were estimated as the first step to investigate the feasibility of reducing or at least curb its increase in the Italian Holstein population through genetic strategies. Calving records (n = 1,625,859) registered between 1992 and 2022 in 1,830 Holstein herds were available. A binomial logistic regression model was used to investigate the odds of TR across parities and calving seasons. Heritability and repeatability of TR were estimated using single-trait models, namely linear animal, linear sire, linear direct-maternal, threshold animal, threshold sire, and threshold direct-maternal models. Moreover, a multiple-trait approach was adopted considering TR in different parities as different traits to estimate h² within parity, as well as genetic and phenotypic correlations between parities. Parity and calving season were included as fixed effects, and animal, permanent environmental, sire, and direct-maternal genetic effects were included as random, depending on the model. The overall TR was 2.71% and 90% of the herds had TR from 0.00% to 4.49%. The greatest TR was observed in parity 3 and ≥ 4 (odds ratio ∼5.20) compared with parity 1, and in summer (odds ratio = 1.32) compared with winter. Overall, the h² increased with parity, ranging from 0.005 (parity 1) to 0.029 (parity ≥ 4) with linear models, and 0.061 (parity 1) to 0.142 (parity 3) with threshold models. Regardless of the model used, the genetic correlations between parities ranged from moderate to strong (0.66 to 0.99). Also, genetic correlations were stronger between multiparous than between primiparous and multiparous cows. Pearson correlations between sires EBV for TR obtained from single-trait linear and threshold models were close to unity, hinting at a limited re-ranking of bulls. This result suggests that there is room to carry out genetic evaluation for TR with the linear animal model, which is easier to be implemented in routine genetic evaluation than the threshold model, and manipulate the occurrence of twins through genetic strategies in the Italian Holstein population to stabilize or reduce TR.