Heat stress is a major cause of welfare issues and economic losses to the worldwide dairy cattle industry. Genetic selection for heat tolerance has a great potential to positively affect the dairy industry, as the gains are permanent and cumulative over generations. Rectal temperature (RT) is hypothesized to be a good indicator trait of heat tolerance. Therefore, this study investigated the genetic architecture of RT by estimating genetic parameters, performing genome-wide association studies, and biologically validating potential candidate genes identified to be related to RT in Holstein cattle. A total of 33,013 RT records from 7,598 cows were used in this study. In addition, 1,114 cows were genotyped using the Illumina 150K Bovine BeadChip (Illumina, San Diego, CA). Rectal temperature measurements taken in the morning (AMRT) and in the afternoon (PMRT) are moderately heritable traits, with estimates of 0.09 ± 0.02 and 0.04 ± 0.01, respectively. These 2 traits are also highly genetically correlated (r = 0.90 ± 0.08). A total of 10 SNPs (located on BTA3, BTA4, BTA8, BTA13, BTA14, and BTA29) were found to be significantly associated with AMRT and PMRT. Subsequently, gene expression analyses were performed to validate the key functional genes identified (SPAG17, FAM107B, TSNARE1, RALYL, and PHRF1). This was done through in vitro exposure of peripheral blood mononuclear cells (PBMC) to different temperatures (37°C, 39°C, and 42°C). The relative mRNA expression of 2 genes, FAM107B and PHRF1, significantly changed between the control and heat stressed PBMC. In summary, RT is heritable, and enough genetic variability exists to enable genetic improvement of heat tolerance in Holstein cattle. Important genomic regions were identified and biologically validated; FAM107B and PHRF1 are the main candidate genes identified to influence heat stress response in dairy cattle.

The objective of the present study was to estimate (co)variance components of female fertility traits in Chinese Holsteins, considering fertility traits in different parities as different traits. Data on 88,647 females with 215,632 records (parities) were collected during 2000 to 2014 from 32 herds in the Sanyuan Lvhe Dairy Cattle Center, Beijing, China. The analyzed female fertility traits included interval from calving to first insemination, interval from first to last insemination, days open, conception rate at first insemination, number of inseminations per conception and non-return rates within 56 days after first insemination. The descriptive statistics showed that the average fertility of heifers was superior to that of cows. Moreover, the genetic correlations between the performances of a trait in heifers and in cows were all moderate to high but far from one, which suggested that the performances of a trait in heifers and cows should be considered as different but genetically correlated traits in genetic evaluations. On the other hand, genetic correlations between performances of a trait in different parities of cows were greater than 0.87, with only a few exceptions, but variances were not homogeneous across parities for some traits. The estimated heritabilities of female fertility traits were low; all were below 0.049 (except for interval from calving to first insemination). Additionally, the heritabilities of the heifer interval traits were lower than those of the corresponding cow interval traits. Moreover, the heritabilities of the interval traits were higher than those of the threshold traits when measuring similar fertility functions. In general, estimated genetic correlations between traits were highly consistent with the biological categories of the female fertility traits. Interval from calving to first insemination, interval from first to last insemination and non-return rates within 56 days after first insemination are recommended to be included in the selection index of the Chinese Holstein population. The parameters estimated in the present study will facilitate the development of a genetic evaluation system for female fertility traits to improve the reproduction efficiency of Chinese Holsteins.

The percentage of people without children over their lifetime is approximately 25% in men and 20% in women. Individual diseases have been linked to childlessness, mostly in women, yet we lack a comprehensive picture of the effect of early-life diseases on lifetime childlessness. We examined all individuals born in 1956–1968 (men) and 1956–1973 (women) in Finland (n = 1,035,928) and Sweden (n = 1,509,092) to the completion of their reproductive lifespan in 2018. Leveraging nationwide registers, we associated sociodemographic and reproductive information with 414 diseases across 16 categories, using a population and matched-pair case–control design of siblings discordant for childlessness (71,524 full sisters and 77,622 full brothers). The strongest associations were mental–behavioural disorders (particularly among men), congenital anomalies and endocrine–nutritional–metabolic disorders (strongest among women). We identified new associations for inflammatory and autoimmune diseases. Associations were dependent on age at onset and mediated by singlehood and education. This evidence can be used to understand how disease contributes to involuntary childlessness.

Conventional and organic production systems mainly differ in feeding strategies, outdoor and pasture access, and the use of antibiotic treatments. These environmental differences could lead to a genotype by environment interaction (G × E) and a requirement for including G × E in breeding decisions. The objectives of this study were to estimate variance components and heritabilities for conventional and organic production systems and investigate G × E under these 2 production systems for female fertility traits in Danish Holsteins. The analyzed traits included the interval from calving to first insemination (ICF), the interval from first to last insemination, number of inseminations per conception (NINS), and non-return rate within 56 d after the first insemination. Records of female fertility in heifers and the first 3 lactations in cows as well as grass ratio of feed at herd level were collected during the period from 2011 to 2016. The performances of a trait in heifers and cows (lactation 1 to 3) were considered as different traits. The (co)variance components and the resulting heritabilities and genetic correlations were estimated using 2 models. One was a bivariate model treating performances of a trait under organic and conventional production systems as 2 different traits using a reduced data set, and the other was a reaction norm model with random regression on the production system and the grass ratio of feed using a full data set. The full data set comprised records of 37,836 females from 112 organic herds and 513,599 females from 1,224 conventional herds, whereas the reduced data set comprised records from all these 112 organic herds and 92,696 females from 185 convention herds extracted from the full data set with grass ratio of feed lower than 0.20. All female fertility performances of the organic production system were superior to those of the conventional production system. Besides, heterogeneities in additive genetic variances and heritabilities were observed between conventional and organic production systems for all traits. Furthermore, genetic correlations between these 2 production systems ranged from 0.607 to 1.000 estimated from bivariate models and from 0.848 to 0.999 estimated from reaction norm models. Statistically significant G × E were observed for NINS in heifers, non-return rate within 56 d after the first insemination in heifers, and ICF from the bivariate model, and for ICF and NINS in cows from the reaction norm model.