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Accumulating data has shown a contribution of the renin‐angiotensin system in COVID‐19 pathogenesis. The role of angiotensin‐converting enzyme (ACE) insertion (I)/deletion (D) polymorphism as a risk factor in developing COVID‐19 disease comes from epidemiological data and is controversially discussed. We conducted a retrospective case‐control study and assessed the impact of ACE I/D genotype in COVID‐19 disease prevalence and severity. In 81 COVID‐19 patients explicitly characterized and 316 controls, recruited during the first wave of COVID‐19 pandemic, ACE I/D genotype, and ACE activity were determined. A generalized linear model was used and Poisson regression analysis estimated the risk ratios (RRs) of alleles and genotypes for disease severity. DD patients had almost 2.0‐fold increased risk (RR: 1.886, confidence limit [CL] 95%: 1.266–2.810, p = 0.0018) of developing a more severe disease when contrasted to ID and II individuals, as did D allele carriers compared to I carriers (RR: 1.372; CL 95%: 1.051–1.791; p = 0.0201). ACE activity (expressed as arbitrary units, AU/L) was lower in patients (3.62 ± 0.26) than in controls (4.65 ± 0.13) (p

Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece. Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements. Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed. Conclusion: The SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.

The objective of the present study was to discover the genetic variants, functional candidate genes, biological processes and molecular functions underlying the negative genetic correlation observed between body weight (BW) and egg number (EN) traits in female broilers. To this end, first a bivariate genome-wide association and second stepwise conditional-joint analyses were performed using 2586 female broilers and 240 k autosomal SNPs. The aforementioned analyses resulted in a total number of 49 independent cross-phenotype (CP) significant SNPs with 35 independent markers showing antagonistic action i.e., positive effects on one trait and negative effects on the other trait. A number of 33 independent CP SNPs were located within 26 and 14 protein coding and long non-coding RNA genes, respectively. Furthermore, 26 independent markers were situated within 44 reported QTLs, most of them related to growth traits. Investigation of the functional role of protein coding genes via pathway and gene ontology analyses highlighted four candidates (CPEB3, ACVR1, MAST2 and CACNA1H) as most plausible pleiotropic genes for the traits under study. Three candidates (CPEB3, MAST2 and CACNA1H) were associated with antagonistic pleiotropy, while ACVR1 with synergistic pleiotropic action. Current results provide a novel insight into the biological mechanism of the genetic trade-off between growth and reproduction, in broilers.

Aim of the present study was to explore the genetic relationships of 18 sheep breedsoriginating from Greece (n=9), Albania (n=4), North Macedonia (n=2), Turkey (n=1),Romania (n=1), and Cyprus (n=1). To this end, admixture, population structure andphylogenetic analyses were performed. Results of admixture analysis showed the fat-tailed sheep (Chios, Sakiz, and Cyprus fat tailed) to be genetically differentiated from the rest breeds. Both admixture and population structure analyses revealed Katsika (Greece) and Karakachanska (North Macedonia) sheep to be clearly distinct from the rest sheep breeds. Phylogenetic analysis distinguished the Greek sheep breeds from Albanian (Shkodrane, Ruda, Lara and Recka), North Macedonian (Ovchepolean and Karakachanska), and the Romanian Tsigaia sheep. Current findings disclose the genetic relationships between the studied sheepbreeds and are relevant in terms of priorities in conservation actions for rare indigenous sheep breeds.

Does are usually fed ad libitum during pregnancy, a fact that can result in intrauterine overfeeding and can have detrimental effects on embryonic programming with permanent changes in the physiology and behavior of the offspring. An experiment was therefore conducted to examine the effect of does' overfeeding during two different periods of pregnancy on the behavior of kits after weaning. Fifteen does were allocated into three groups: control (M) (100% of maintenance energy requirements [MER] throughout pregnancy), O1 (129% of MER between the 7th and 19th of pregnancy), and O2 (138% of MER between the 20th and 27th day of pregnancy). At the ages of 50 and 65 days, the behavior of 24 randomly selected rabbits in home cages was recorded for three consecutive days, while an open field test that constitutes a good indicator of locomotion score and stress was conducted for another 24 rabbits. Rabbits in O1 and O2 groups had more meals in shorter duration and moved and explored their environment less than the controls ( P P P

The aim of the present study was to identify ovine genomic regions and candidate genes impacting on milk traits i.e. milk yield, fat content, protein content and lactose content in the Frizarta dairy sheep. A total number of 481 ewes genotyped with the OvineSNP50 BeadChip were used. Haplotype regression analysis along with multi-locus mixed model analysis was employed to detect genomic markers associated with the traits. A total number of 9 single nucleotide polymorphisms were found to be associated with the traits under study. Four out of the 9 significant markers resided in genomic areas previously associated with milk traits according to the SheepQTLdb ( http://www.animalgenome.org/cgi-bin/QTLdb/OA/search ). A total number of 29 positional candidate genes located within a maximum distance of 250 kb upstream and downstream of 5 significant markers were identified. Gene prioritization analysis of the positional candidate genes based on the guilt-by-association principle suggested eleven genes i.e. ITGB4, H3F3B, ACOX1, WBP2, HTR1A, GPC5, GALR2, UNC13D, PRPSAP1, SRP68 and CDK3 as the most plausible functional candidate genes for milk traits in the Frizarta dairy sheep.

Elucidating the genetic variation and structure of Lemnos and Lesvos sheep is critical for maintaining local genetic diversity, ecosystem integrity and resilience of local food production of the two North Aegean islands. In the present study, we explored genetic diversity and differentiation as well as population structure of the Lemnos and Lesvos sheep. Furthermore, we sought to identify a small panel of markers with the highest discriminatory power to assign animals across islands. A total number of n = 424 (n = 307, Lemnos and n = 117, Lesvos) ewes, sampled from n = 24 herds dispersed at different geographic regions on the two islands, were genotyped with the 50K SNP array. Mean observed heterozygosity was higher (but not statistically significantly different) in Lesvos than in Lemnos population (0.384 vs. 0.377) while inbreeding levels were higher in Lemnos than Lesvos herds (0.065 vs. 0.031). Results of principal components along with that of admixture analysis and estimated genetic distances revealed genetic clusters corresponding to Lesvos and Lemnos origin and the existence of infrastructure within islands that were associated with geographical isolation and genetic history of the studied populations. In particular, genetic analyses highlighted three geographically isolated herds in Lemnos that are located at mountainous areas of the island and are characterized as representatives of the local sheep by historic data and reports. Admixture analysis also showed a shared genetic background between Lemnos and Lesvos sheep attributable to past gene flow. Little overall genetic differentiation was detected between the two island sheep populations, while 150 discriminatory SNPs could accurately assign animals to their origin. Present results are comparable with those reported in the worldwide sheep breeds, suggesting geography related genetic patterns across and within islands and the existence of the local Lemnos sheep.

Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece. Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements. Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed. Conclusion: Τhe SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis. Copyright: Mataragka, et al. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

In Greece, a number of local sheep breeds are raised in a wide range of ecological niches across the country. These breeds can be used for the identification of genetic variants that contribute to local adaptation. To this end, 50k genotypes of 90 local sheep from mainland Greece (Epirus, n = 35 and Peloponnesus, n = 55) were used, as well as 147 genotypes of sheep from insular Greece (Skyros, n = 21), Lemnos, n = 36 and Lesvos, n = 90). Principal components and phylogenetic analysis along with admixture and spatial point patterns analyses suggested genetic differentiation of ‘mainland-island’ populations. Genome scans for signatures of selection and genome-wide association analysis (GWAS) pointed to one highly differentiating marker on OAR4 (FST = 0.39, FLK = 21.93, FDR p-value = 0.10) that also displayed genome wide significance (FDR p-value = 0.002) during GWAS. A total number of 6 positional candidate genes (LOC106990429, ZNF804B, TEX47, STEAP4, SRI and ADAM22) were identified within 500 kb flanking regions around the significant marker. In addition, two QTLs related to fat tail deposition are reported in genomic regions 800 kb downstream the significant marker. Based on gene ontology analysis and literature evidence, the identified candidate genes possess biological functions relevant to local adaptation that worth further investigation.

In the present GWAS, first, we detected additive and dominant genetic variants associated with the horned/polled phenotype in a sheep population (n=256) dispersed on three Greek islands (Lemnos, Lesvos and Agios Efstratios) and second we identified the most plausible functional candidate gene for the trait under study. Marker-based heritability was as high as 0.26 and 0.16 in the additive and dominant model, respectively. Marker-trait association analyses revealed one highly significant marker, i.e. OAR10_29511510.1 (C>T) (additive p-value=4.82e-24, dominant p-value=1.52e-30) on ovine chromosome 10 that explained 0.37 and 0.43 of the phenotypic variance of the trait in the additive and dominant genetic model, respectively. This marker is located in intron 11 of RXFP2 (relaxin/insulin-like family peptide receptor 2) gene that has previously been implicated to horn development and types in various sheep breeds. Current findings are indicative of dominant gene action for polledness and confirmed the strong candidacy of the RXFP2 gene in the genetic control of presence/absence of horns in sheep.

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Aim of the present study was to discover a small panel of SNPs with the highest discriminatory power to classify sheep to: (i) three neighboring North Aegean islands (Lemnos, Lesvos and Agios Efstratios) and (ii) two agro-ecological zones (rough and flat landscape) within Lemnos. A total number of 256 ewes belonging to n=15 herds dispersed on the three islands and the two agro-ecological zones were genotyped with the 50K SNP array. Application of quality criteria at the marker level resulted in about 37K SNPs retained. Of these markers, we searched for a limited number (n=50 or 100) of strongly differentiated SNPs between groups (islands/zones) defined as those with highest values for the F ST fixation index and combined results of principal components (PCA) and Nonparametric Discriminant Analysis (NPDA) to derive the classification criterion (DC) across cases. Application of the DC derived on the first two principal components (PCs) constructed on n=100 strongly differentiated SNPs resulted in a lowest average misclassification error rates (0.019) across the islands, whereas the respective DC derived on the first PC of n=50 strongly differentiated SNPs could accurately assign individuals to the two agro-ecological zones (average misclassification error rate: 0.012). Current results suggest that the proposed approach could be implemented to unequivocally determine the origin/habitat of local sheep and possibly their associated specific products.

Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece. Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements. Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed. Conclusion: The SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.

Background Aim of the present study was first to identify genetic variants associated with egg number (EN) in female broilers, second to describe the mode of their gene action (additive and/or dominant) and third to provide a list with implicated candidate genes for the trait. A number of 2586 female broilers genotyped with the high density (~ 600 k) SNP array and with records on EN (mean = 132.4 eggs, SD = 29.8 eggs) were used. Data were analyzed with application of additive and dominant multi-locus mixed models. Results A number of 7 additive, 4 dominant and 6 additive plus dominant marker-trait significant associations were detected. A total number of 57 positional candidate genes were detected within 50 kb downstream and upstream flanking regions of the 17 significant markers. Functional enrichment analysis pinpointed two genes (BHLHE40 and CRTC1) to be involved in the ‘entrainment of circadian clock by photoperiod’ biological process. Gene prioritization analysis of the positional candidate genes identified 10 top ranked genes (GDF15, BHLHE40, JUND, GDF3, COMP, ITPR1, ELF3, ELL, CRLF1 and IFI30). Seven prioritized genes (GDF15, BHLHE40, JUND, GDF3, COMP, ELF3, CRTC1) have documented functional relevance to reproduction, while two more prioritized genes (ITPR1 and ELL) are reported to be related to egg quality in chickens. Conclusions Present results have shown that detailed exploration of phenotype-marker associations can disclose the mode of action of genetic variants and help in identifying causative genes associated with reproductive traits in the species.

This Research Communication addresses the hypothesis that fat, protein, lactose and total solids content can be predicted using daily milk yield (DMY), pH, electrical conductivity (MEC) and refractive index (RI) of milk as predictors. It also addresses the possibility of these measurements being used for on-farm benchmarking activities towards selecting the highest yielding animals and flocks regarding milk quality traits (MQT). A total of 308 purebred Frizarta ewes were used for the study. From each individual ewe, a composite milk sample was collected. pH, MEC and RI of milk were measured and the samples were assayed for fat, protein, lactose and total solids content, using an automatic infrared milk analyser. The predictive value of DMY, pH, MEC and RI of milk on its MQT was assessed using multiple linear regression analysis. Significant regression equations were produced for all of the studied traits. RI and MEC were significant and reliable predictors for all studied MQT, whereas DMY was a significant predictor for most MQT with the exception of protein content. pH was a marginally significant predictor for some of the MQTs at the initial development of the equations but proved unreliable after bootstraping. Using these equations a number of ewes varying from 75 (for fat) to 97 (for protein) out of the 100 highest MQT yielders were correctly predicted, whereas, none of the ewes out of the 100 lowest MQT yielders was mispredicted as a high yielder for protein-, lactose- and total solids- content. Three out of 100 lowest fat-yielders were mispredicted as high fat-yielders. Similar equations can be used for benchmarking activities towards selecting the highest protein-, fat-, lactose- and total solids- yielding animals and flocks in cases where laboratories for MQT analyses are not readily available or the cost of chemical analyses is high. The method can be regarded as a handy tool for the dairy industry to readily assess milk quality at the farm level.