Genome-wide association study for antibody response to Mycobacterium avium ssp. paratubeculosis in goats.

Mycobacterium avium ssp. paratuberculosis (MAP), causes Johne's disease (JD), or paratuberculosis, a chronic enteritis of ruminants, which in goats is characterized by ileal lesions. The work described here is a case-control association study using the Illumina Caprine SNP50 BeadChip to unravel the genes involved in susceptibility of goats to JD. Goats in herds with a high occurrence of Johne's disease were classified as healthy or infected based on the level of serum antibodies against MAP, and 331 animals were selected for the association study. Goats belonged to the Jonica (157) and Siriana breeds (174). Whole-genome association analysis identified one region suggestive of significance associated with an antibody response to MAP on chromosome 7 (p-value = 1.23 × 10-5 ). These results provide evidence for genetic loci involved in the antibody response to MAP in goats.

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

In this study, we investigated the sequence of (Structural Maintenance of Chromosomes flexible Hinge Domain containing 1) SMCHD1 gene in a cohort of clinically defined FSHD (facioscapulohumeral muscular dystrophy) patients in order to assess the distribution of SMCHD1 variants, considering the D4Z4 fragment size in terms of repeated units (RUs; short fragment: 1-7 RU, borderline: 8-10RU and normal fragment: >11RU). The analysis of SMCHD1 revealed the presence of 82 variants scattered throughout the introns, exons and 3'untranslated region (3'UTR) of the gene. Among them, 64 were classified as benign polymorphisms and 6 as VUS (variants of uncertain significance). Interestingly, seven pathogenic/likely pathogenic variants were identified in patients carrying a borderline or normal D4Z4 fragment size, namely c.182_183dupGT (p.Q62Vfs*48), c.2129dupC (p.A711Cfs*11), c.3469G>T (p.G1157*), c.5150_5151delAA (p.K1717Rfs*16) and c.1131+2_1131+5delTAAG, c.3010A>T (p.K1004*), c.853G>C (p.G285R). All of them were predicted to disrupt the structure and conformation of SMCHD1, resulting in the loss of GHKL-ATPase and SMC hinge essential domains. These results are consistent with the FSHD symptomatology and the Clinical Severity Score (CSS) of patients. In addition, five variants (c.*1376A>C, rs7238459; c.*1579G>A, rs559994; c.*1397A>G, rs150573037; c.*1631C>T, rs193227855; c.*1889G>C, rs149259359) were identified in the 3'UTR region of SMCHD1, suggesting a possible miRNA-dependent regulatory effect on FSHD-related pathways. The present study highlights the clinical utility of next-generation sequencing (NGS) platforms for the molecular diagnosis of FSHD and the importance of integrating molecular findings and clinical data in order to improve the accuracy of genotype-phenotype correlations.

Genetic parameters of weeping teats in Italian Saanen and Alpine dairy goats and their relationship with milk production and somatic cell score.

This paper reports a quantitative genetics analysis of weeping teats (WT), an abnormality of the mammary gland in goats. Weeping teats are characterized by milk oozing out of the teat or by the presence of multiple cysts near its base. This abnormality has been routinely recorded in Italian Alpine and Saanen goats since 2000 using a score of 0 or 1 (0 = defect not present, 1 = defect present). No information is available on the genetic background of WT or its relationship with production or other udder-related traits. Data obtained by the Italian National Sheep and Goat Breeders Association (Rome, Italy) were used to estimate both heritability of WT and its genetic correlation with milk yield, somatic cell score, and udder traits. The final data set used in the analysis included 2,178 Saanen and 2,309 Alpine primiparous goats kidding from 2009 to 2014. The pedigree data included 7,333 Saanen and 7,421 Alpines, respectively. A threshold-linear multivariate animal model was used to estimate variance and covariance components. A genealogical data analysis was also implemented, including genealogical data completeness, inbreeding, and identification of possible most recent common ancestors. On average, around 4 and 13% of primiparous Saanen and Alpine females kidding from 2009 to 2014 showed mammary gland abnormality, respectively. Weeping teats heritability was 0.27 and 0.26 for Saanen and Alpine, respectively. Genetic correlations between milk production or somatic cell score ranged from -0.16 in Saanen to 0.43 in Alpine, but the standard error of the estimates was very large. Positive genetic correlations were observed among WT and teat characteristics in both Saanen and Alpine. The average inbreeding of abnormality carriers was 2.4 and 5.1 for Saanen and Alpine, respectively. The genealogical data analysis identified 4 common ancestors of affected does in Saanen and 2 in Alpine. These results indicate that WT have a possible genetic background. A genome-wide association study might help in understanding the polygenic or monogenic determination of this abnormality.

Identification of additional loci associated with antibody response to Mycobacterium avium ssp. Paratuberculosis in cattle by GSEA-SNP analysis.

Mycobacterium avium subsp. paratuberculosis: (MAP) causes a contagious chronic infection results in Johne's disease in a wide range of animal species, including cattle. Several genome-wide association studies (GWAS) have been carried out to identify loci putatively associated with MAP susceptibility by testing each marker separately and identifying SNPs that show a significant association with the phenotype, while SNP with modest effects are usually ignored. The objective of this study was to identify modest-effect genes associated with MAP susceptibility using a pathway-based approach. The Illumina BovineSNP50 BeadChip was used to genotype 966 Holstein cows, 483 positive and 483 negative for antibody response to MAP, data were then analyzed using novel SNP-based Gene Set Enrichment Analysis (GSEA-SNP) and validated with Adaptive Rank Truncated Product methodology. An allele-based test was carried out to estimate the statistical association for each marker with the phenotype, subsequently SNPs were mapped to the closest genes, considering for each gene the single variant with the highest value within a window of 50 kb, then pathway-statistics were tested using the GSEA-SNP method. The GO biological process "embryogenesis and morphogenesis" was most highly associated with antibody response to MAP. Within this pathway, five genes code for proteins which play a role in the immune defense relevant to response to bacterial infection. The immune response genes identified would not have been considered using a standard GWAS, thus demonstrating that the pathway approach can extend the interpretation of genome-wide association analyses and identify additional candidate genes for target traits.

The assessment of inter-individual variation of whole-genome DNA sequence in 32 cows.

Despite the growing number of sequenced bovine genomes, the knowledge of the population-wide variation of sequences remains limited. In many studies, statistical methodology was not applied in order to relate findings in the sequenced samples to a population-wide level. Our goal was to assess the population-wide variation in DNA sequence based on whole-genome sequences of 32 Holstein-Friesian cows. The number of SNPs significantly varied across individuals. The number of identified SNPs increased with coverage, following a logarithmic curve. A total of 15,272,427 SNPs were identified, 99.16 % of them being bi-allelic. Missense SNPs were classified into three categories based on their genomic location: housekeeping genes, genes undergoing strong selection, and genes neutral to selection. The number of missense SNPs was significantly higher within genes neutral to selection than in the other two categories. The number of variants located within 3'UTR and 5'UTR regions was also significantly different across gene families. Moreover, the number of insertions and deletions differed significantly among cows varying between 261,712 and 330,103 insertions and from 271,398 to 343,649 deletions. Results not only demonstrate inter-individual variation in the number of SNPs and indels but also show that the number of missense SNPs differs across genes representing different functional backgrounds.

Variability and Number of Circulating Complementary Sex Determiner (Csd) Alleles in a Breeding Population of Italian Honeybees under Controlled Mating.

In Apis mellifera, csd is the primary gene involved in sex determination: haploid hemizygous eggs develop as drones, while females develop from eggs heterozygous for the csd gene. If diploid eggs are homozygous for the csd gene, diploid drones will develop, but will be eaten by worker bees before they are born. Therefore, high csd allelic diversity is a priority for colony survival and breeding. This study aims to investigate the variability of the hypervariable region (HVR) of the csd gene in bees sampled in an apiary under a selection scheme. To this end, an existing dataset of 100 whole-genome sequences was analyzed with a validated pipeline based on de novo assembly of sequences within the HVR region. In total, 102 allelic sequences were reconstructed and translated into amino acid sequences. Among these, 47 different alleles were identified, 44 of which had previously been observed, while 3 are novel alleles. The results show a high variability in the csd region in this breeding population of honeybees.

Effect of extended heat stress in dairy cows on productive and behavioral traits.

This study evaluates the response of dairy cows to short and extended heat stressing conditions (from 1 to 28 days), as expressed in changes in their behavior. Due to climate change, heat stress and strong heat waves are frequently affecting the productivity and behavior of dairy cows. In the five years under study from 2018 to 2022, two were characterized by extremely strong heat waves occurring in the region analyzed in this study (Northern Italy). The dairy cattle farm involved in this study is located in Northern Italy and includes about 1 600 Holstein Friesian lactating dairy cows. Phenotypic data were provided by the Afimilk system and compromised behavioral and productive traits. Behavioral traits analyzed were activity, rest time, rest bouts, rest ratio, rest per bout and restlessness. Production traits were daily milk yield, average milking time, somatic cell count, fat percentage, protein percentage and lactose percentage. Climate data came from the National Aeronautics and Space Administration/Prediction of Worldwide Energy Resources database. Heat stress was analyzed considering Temperature-Humidity Index (THI) averaged over 28 different time windows of continuous heat stress. Results showed that rest time and milk yield were the two traits most affected by the increased THI. Rest time was immediately affected by high THI, showing a marked decrease already from 1d window and maintaining this all over the other windows. Furthermore, results show that rest time and rest ratio were only slightly negatively correlated with milk yield (-0.14 and -0.15). In addition, heat stress has a different effect depending on parity and lactation stages on the studied traits. In conclusion, the results indicate that heat stress increases activity and compromises milk production, rest time and milk quality traits. Results further suggest that rest time can be a better parameter than activity to describe the effects of heat stress on dairy cattle. The novel approach used in this study is based on the use of different time windows (up to 28 days) before the emergence of undesired THI and allows to identify the traits that are immediately influenced by the undesirable THI values and those that are influenced only after a prolonged heat stress period.

Study of correlations between serum taurine, thyroid hormones and echocardiographic parameters of systolic function in clinically healthy Golden retrievers fed with commercial diet.

Taurine deficiency predisposes to the development of nutritional dilated cardiomyopathy and is widespread in dogs fed with non-traditional diets. However, Golden retrievers show lower plasma taurine concentration and an impaired systolic function compared to breeds of the same size and morphotype. For these reasons, it can be difficult to classify a subject from a cardiological point of view, with the risk of considering as pathological characteristics that can be completely normal in this breed. This is a cross-sectional multicenter study. The aims were 1) to identify breed-specific range of serum taurine concentration, 2) to describe a correlation between serum taurine concentration and echocardiographic parameters of systolic function in clinically healthy Golden retrievers fed with traditional diet, 3) to identify a correlation between thyroid hormones, serum taurine concentration and echocardiographic indices. Sixty clinically healthy Golden retrievers (33% males, 67% females) were included. Fifty-three dogs were fed with traditional diets and their range of serum taurine concentration was 398.2 (31.8-430) nmol/ml. Serum taurine concentration was found to be negatively correlated to systolic internal diameter of the left ventricle and systolic and diastolic left ventricular indices and volumes obtained with different methods, whereas was positively correlated to the left ventricle ejection and shortening fractions but difference was not statistically significative. A weak but significant correlation between serum taurine and T4 was demonstrated. Serum taurine median values in dogs with normal systolic function were higher than in dogs with impaired systolic function. A cut-off of serum taurine concentration of 140.6 nmol/ml had a moderate sensitivity and specificity in the identification of an impaired left ventricular systolic function (AUC 0.6, Se 78%, Sp 44%). This study showed that the median serum taurine concentration was significantly lower in dogs with impaired systolic function. Therefore, echocardiographic monitoring is recommended in all dogs with serum taurine concentration lower than 140.6 nmol/ml.

Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.

Background: Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy. Methods: Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated. Results: A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (n = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (n = 12) for GR-PRA1 and 8.43% (n = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (n = 20) heterozygous carriers and 0%, respectively. Conclusion: The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.

Do intense weather events influence dogs' and cats' behavior? Analysis of owner reported data in Italy.

Climate change is a threat to global health and can affect both veterinary and human health. Intense weather events, including sudden and violent thunderstorms or periods of extreme heat, are predicted to rise in frequency and severity and this could lead owners to significantly change their habits and schedules based on the weather, could modify human management and could aggravate pre-existing behavioral problems in pets. The aims of the present study were to identify and quantify possible weather events impact on management, behavior, and behavioral problems of Italian dogs and cats, based on previous owners' experiences with their animals. Two questionnaires were prepared, one for dogs and one for cats, investigating owners' perceptions of the impact of weather events on their pets' behavior. A number of 392 dogs and 426 cats' owners answered the questionnaire. Our study showed that many behaviors in both species were equally modified by environmental temperature. Play and activity increased with cold weather and decreased with heat, and sleep increased with drops in temperature and with hot weather. In particular, the increase in activity in correspondence with the thermic drop was more significant in males, while the increase in playing behavior was statistically greater in the Sheepdogs and Cattle dogs -group1. Weather events did not affect aggressive and house soiling behaviors in both dogs and cats, but weather events, including wild thunderstorms, torrential rains influenced the pets' behavior. Understanding how pets modify their behaviors based on a different owners' schedule and to weather events can help to refine prevention strategies through societal changes and owner education.

Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy.

BACKGROUND: A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes: normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10-year time span. METHODS: Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ1 gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland Sheepdog (SS, n = 74), Australian Shepherd (AS, n = 52), Nova Scotia Duck Tolling Retriever (NS, n = 20) and Rough Collie (RC, n = 16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS). RESULTS: Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC, respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC, respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively. CONCLUSION: The results support the usefulness of this type of genetic analysis to optimize the care of dogs where the CEA mutation is present, including assessing the health risk to susceptible dogs within a breed and to provide an objective basis for breeding programmes.

Immunohistochemical Distribution of Serotonin Transporter (SERT) in the Optic Lobe of the Honeybee, Apis mellifera.

Visual information is processed in the optic lobes, which consist of three retinotopic neuropils. These are the lamina, the medulla and the lobula. Biogenic amines play a crucial role in the control of insect responsiveness, and serotonin is clearly related to aggressiveness in invertebrates. Previous studies suggest that serotonin modulates aggression-related behaviours, possibly via alterations in optic lobe activity. The aim of this investigation was to immunohistochemically localize the distribution of serotonin transporter (SERT) in the optic lobe of moderate, docile and aggressive worker honeybees. SERT-immunoreactive fibres showed a wide distribution in the lamina, medulla and lobula; interestingly, the highest percentage of SERT immunoreactivity was observed across all the visual neuropils of the docile group. Although future research is needed to determine the relationship between the distribution of serotonin fibres in the honeybee brain and aggressive behaviours, our immunohistochemical study provides an anatomical basis supporting the role of serotonin in aggressive behaviour in the honeybee.

Automated image analysis to assess hygienic behaviour of honeybees.

Focus of this study is to design an automated image processing pipeline for handling uncontrolled acquisition conditions of images acquired in the field. The pipeline has been tested on the automated identification and count of uncapped brood cells in honeybee (Apis Mellifera) comb images to reduce the workload of beekeepers during the study of the hygienic behavior of honeybee colonies. The images used to develop and test the model were acquired by beekeepers on different days and hours in summer 2020 and under uncontrolled conditions. This resulted in images differing for background noise, illumination, color, comb tilts, scaling, and comb sizes. All the available 127 images were manually cropped to approximately include the comb area. To obtain an unbiased evaluation, the cropped images were randomly split into a training image set (50 images), which was used to develop and tune the proposed model, and a test image set (77 images), which was solely used to test the model. To reduce the effects of varied illuminations or exposures, three image enhancement algorithms were tested and compared followed by the Hough Transform, which allowed identifying individual cells to be automatically counted. All the algorithm parameters were automatically chosen on the training set by grid search. When applied to the 77 test images the model obtained a correlation of 0.819 between the automated counts and the experts' counts. To provide an assessment of our model with publicly available images acquired by a different equipment and under different acquisition conditions, we randomly extracted 100 images from a comb image dataset made available by a recent literature work. Though it has been acquired under controlled exposure, the images in this new set have varied illuminations; anyhow, our pipeline obtains a correlation between automatic and manual counts equal to 0.997. In conclusion, our tests on the automatic count of uncapped honey bee comb cells acquired in the field and on images extracted from a publicly available dataset suggest that the hereby generated pipeline successfully handles varied noise artifacts, illumination, and exposure conditions, therefore allowing to generalize our method to different acquisition settings. Results further improve when the acquisition conditions are controlled.

Preliminary Data on Echocardiographic Evaluation and Serum Taurine Concentration in Healthy Dogs of Two Breeds (10 Golden Retrievers and 12 German Shorthaired Pointers) with Different Predispositions to Nutritional Dilated Cardiomyopathy: A Pilot Study.

Dilated cardiomyopathy (DCM) is the most common myocardial disorder in dogs, and it is primarily considered to be an inherited or genetic disease with a higher prevalence in specific breeds such as Doberman Pinschers and Great Danes. Recently, several publications have reported concerns about cases of DCM in unusual breeds (Golden Retrievers-GRs) and associated them with specific diets (grain-free, high in pulses or potatoes, or low in taurine and amino acid precursors). Because taurine is involved in the digestion and absorption of fat and liposoluble vitamins, including vitamin D, the aims of this pilot study were: (1) to compare serum taurine and serum vitamin D (both implicated in cardiac function and absorbed from food) between healthy GRs and German Shorthaired Pointers (GSPs), breeds with different predispositions to nutritional DCM; (2) to highlight the differences between the echocardiographic variables in the two breeds; and (3) to evaluate the associations between the serum taurine and vitamin D concentrations and the echocardiographic features. Ten Golden Retrievers and twelve German Shorthaired Pointers were enrolled for complete hematobiochemical analyses, cardiac examinations, and serum taurine and vitamin D evaluations. The serum taurine concentrations were significantly lower in the GR dogs than in GSPs. All GRs were clinically healthy, but some echocardiographic variables, such as the sphericity index (related to left ventricle dilatation) as well as the end-systolic volume index and fractional shortening (both related to left ventricle systolic function), were different from the published reference ranges.

Analysis of Complementary Sex-Determiner (csd) Allele Diversity in Different Honeybee Subspecies from Italy Based on NGS Data.

Sexual regulation in Apis mellifera is controlled by the complementary sex-determiner (csd) gene: females (queens and workers) are heterozygous at this locus and males (drones) are hemizygous. When homozygous diploid drones develop, they are eaten by worker bees. High csd allelic diversity in honeybee populations is a priority for colony survival. The focus of this study is to investigate csd variability in the genomic sequence of the hypervariable region (HVR) of the csd gene in honeybee subspecies sampled in Italy. During the summer of 2017 and 2018, worker bees belonging to 125 colonies were sampled. The honeybees belonged to seven different A. mellifera subspecies: A. m. ligustica, A. m. sicula, A. m cecropia, A. m. carnica, A. m. mellifera, Buckfast and hybrid Carnica. Illumina genomic resequencing of all samples was performed and used for the characterization of global variability among colonies. In this work, a pipeline using existing resequencing data to explore the csd gene allelic variants present in the subspecies collection, based on de novo assembly of sequences falling within the HVR region, is described. On the whole, 138 allelic sequences were successfully reconstructed. Among these, 88 different alleles were identified, 68 of which match with csd alleles present in the NCBI GenBank database.

Effects of BEMER® physical vascular therapy in horses under training. A randomized, controlled double blind study.

Horses preparation for competition may cause psychological and physical stress. Physical vascular therapy BEMER® is reported to increase vasomotion and microcirculation, supporting body healing. This study aimed at assessing whether BEMER® physical vascular therapy in horses influences recovery rate of hematological and biochemical blood parameters within 1 h after moderate exercise and reduces stress measured by physiological and behavioral indicators. This prospective, randomized, double blinded, placebo-controlled crossover study included twelve warmblood horses (3 mares, 8 geldings, 1 stallion). Additionally to their daily work, horses were subjected to 15 min of exercise on a longe. Horses were randomly divided in two groups: A (n = 6), B (n = 6). Group A underwent first to BEMER® blanket for two weeks, then to Placebo blanket for two weeks. Group B did the opposite. Blood samples, thermographic infrared images, Heart Rate Variability and behavior were analyzed. ANOVA was used to investigate any treatment effect. After two weeks of treatment, although not statistically significant, hematocrit (%) measured immediately post exercise was lower in horses undergoing BEMER® treatment (48.30% ± 3.21) than both No blanket (51.15% ± 3.57) and Placebo blanket (49.58% ± 5.77). While wearing BEMER® blanket and after treatment, horses had a lower LF/HF ratio compared to other groups, although this difference was not statistically significant. These results possibly suggest an effect of BEMER® therapy on vagal activity and relaxation. Substantial progress in recovery after exercise was not confirmed, leading to the need for further investigation on the overall effect of BEMER® therapy.

Using Omics Approaches in the Discovery of Biomarkers for Early Diagnosis of Johne's Disease in Sheep and Goats.

Johne's disease (JD) is caused by Mycobacterium avium subsp. paratuberculosis (MAP) and is an important and emerging problem in livestock; therefore, its control and prevention is a priority to reduce economic losses and health risks. Most JD research has been carried out on cattle, but interest in the pathogenesis and diagnosis of this disease in sheep and goats is greatest in developing countries. Sheep and goats are also a relevant part of livestock production in Europe and Australia, and these species provide an excellent resource to study and better understand the mechanism of survival of MAP and gain insights into possible approaches to control this disease. This review gives an overview of the literature on paratuberculosis in sheep and goats, highlighting the immunological aspects and the potential for "omics" approaches to identify effective biomarkers for the early detection of infection. As JD has a long incubation period before the disease becomes evident, early diagnosis is important to control the spread of the disease.

Effect of Weeping Teats on Intramammary Infection and Somatic Cell Score in Dairy Goats.

Mastitis is the most common disease affecting dairy goats and causing economic losses. Although it is accepted that increased somatic cell count (SCC) is mainly a response to infection, its reliability for subclinical mastitis detection in goats is controversial. Indeed, many physiological and extrinsic variables can increase SCC, including breed, parity, age, stage of lactation, seasonal variations, and milking methods. In some animals, milk-secreting tissue is present in the wall of the teat and, in some instances, milk can filter through pores in the skin to the udder surface. This condition is known as "weeping teat" (WT). In these animals, mammary tissue might be prone to develop bacterial infections, although limited information is provided. Weeping teat seems to have a genetic background and is reported to be especially found in goat breeds selected for high milk production. Moreover, it is observed a genetic correlation between WT and decreased milk yield as well as increased somatic cell scores (SCS). Since information on this topic is very limited, this study aimed at investigating any possible relationship between WT, high SCC, and the presence of bacteria in goat milk. Alpine goat farms in Northern Italy were selected based on the presence of WT. Each herd was divided into two age-matched groups, identified as case (WT+) and control (WT-). Half-udder milk samples were collected aseptically at three timepoints; bacteriological analysis was performed, and SCC were determined and transformed in SCS. There was a positive association between SCS and the presence of bacteria in milk (P = 0.037) overall, whereas WT udder defect was associated with positive bacterial culture in just one herd (P = 0.053). Thus, this herd was further investigated, repeating the sampling and the analysis on the following year. The positive association between high SCS and the presence of bacteria in milk was then confirmed (P = 0.007), whereas no association with WT condition was found. These results indicate that WT defect is usually unrelated to both the outcome of milk bacterial culture and SCS. As a side outcome, we could confirm the role of bacterial infection in increasing SCS.

Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.

The present study investigated the association of SNPs involved in the regulation of immune response, cellular degenerative and neuroinflammatory pathways with the susceptibility and progression of idiopathic Parkinson's Disease (PD). In particular, 342 PD patients were subjected to a genotyping analysis of a panel of 120 SNPs by Open Array Technology. As control group, 503 samples representative of the European general population were utilized. The genetic analysis identified 26 SNPs associated with PD susceptibility. Of them, 12 SNPs were described as significant expression Quantitative Loci (eQTL) variants in different brain regions associated with motor and non-motor PD phenomenology. Moreover, the study highlighted 11 novel susceptibility genes for PD, which may alter multiple signaling pathways critically involved in peripheral immune response, neuroinflammation, neurodegeneration and dopaminergic neurons wiring. The study of miRNA-target genes highlighted a possible role of miR-499a, miR-196a2, and miR-29a in the modulation of multiple neuroinflammatory and neurodegenerative mechanisms underlying PD physiopathology. The study described a network of interconnected genes (APOE, CLU, IL6, IL7R, IL12B, INPP5D, MAPK1, MEF2C, MIF, and TNFSF14), which may act as upstream regulators in the modulation of biological pathways relevant to PD. Intriguingly, IL6 stands out as a master gene regulator since it may indirectly regulate the network of interconnected genes. The study highlighted different genes and miRNAs interactions potentially involved in PD physiopathology, which are worth to be further explored to improve the knowledge of disease and the research of novel treatments strategies.

Whole-Genome Sequence Analysis of Italian Honeybees (Apis mellifera).

At the end of the last glaciation, Apis mellifera was established in northern Europe. In Italy, Apis melliferaligustica adapted to the mild climate and to the rich floristic biodiversity. Today, with the spread of Varroa destructor and with the increasing use of pesticides in agriculture, the Ligustica subspecies is increasingly dependent on human action for its survival. In addition, the effects of globalization of bee keeping favored the spread in Italy of other honeybee stocks of A. mellifera, in particular the Buckfast bee. The purpose of this study was to characterize the Italian honeybee's population by sequencing the whole genome of 124 honeybees. Whole genome sequencing was performed by Illumina technology, obtaining a total coverage of 3720.89X, with a mean sample coverage of 29.77X. A total of 4,380,004 SNP variants, mapping on Amel_HAv3.1 chromosomes, were detected. Results of the analysis of the patterns of genetic variation allowed us to identify and subgroup bees according to their type. The investigation revealed the genetic originality of the Sicula, and in A.m. ligustica limited genetic introgression from the other breeds. Morphometric analysis of 5800 worker bees was in agreement with genomic data.