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Studies linking genetics, behavior and life history in any species are rare. In Atlantic salmon (Salmo salar), age at maturity is a key life-history trait and associates strongly with the vgll3 locus, whereby the vgll3*E allele is linked with younger age at maturity, and higher body condition than the vgll3*L allele. However, the relationship between this genetic variation and behaviors like boldness and exploration which may impact growth and reproductive strategies is poorly understood. The pace-of-life syndrome (POLS) framework provides predictions, whereby heightened exploratory behavior and boldness are predicted in individuals with the early maturation-associated vgll3 genotype (EE). Here, we tested these predictions by investigating the relationship between vgll3 genotypes and exploration and boldness behaviors in 129 juveniles using the novel environment and novel object trials. Our results indicated that contrary to POLS predictions, vgll3*LL fish were bolder and more explorative, suggesting a genotype-level syndrome including several behaviors. Interestingly, clear sex differences were observed in the latency to move in a new environment, with vgll3*EE males, but not females, taking longer to move than their vgll3*LL counterparts. Our results provide further empirical support for recent calls to consider more nuanced explanations than the pace of life theory for integrating behavior into life-history theory.
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As companion dogs spend most of their lives with humans, the human-dog relationship and owner temperament may affect the dog behavior. In this study (n = 440), we investigated the relationship between the dog owner temperament (ATQ-R), owner-perceived dog-owner relationship (MDORS) and the dog behavior in three behavioral tests: the object-choice test, the unsolvable task, and the cylinder test. Dog owner temperament influenced the dog-owner relationship. Owners with high negative affectivity showed higher emotional closeness and perceived costs of their dog, whereas owners with high effortful control showed lower emotional closeness and perceived costs. Higher dog activity during the behavioral tests was also connected with owner-perceived lower emotional closeness. Furthermore, dog breed group modulated the connection between the owner temperament and dog behavior. Owner's high negative affectivity correlated with herding dogs' lower scores in the object choice test, while the behavior of primitive type dogs was unaffected by the owner temperament. Our results confirm that human characteristics are associated with the owner-reported dog-owner relationship, and owner temperament may have a modulatory effect on the dog social and cognitive behavior depending on the dog breed group, which should be investigated further.
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Problema de Conducta , Temperamento , Humanos , Animales , Perros , Emociones , Euforia , CogniciónRESUMEN
The extraordinary genetic and behavioural diversity of dog breeds provides a unique opportunity for investigating the heritability of cognitive traits, such as problem-solving ability, social cognition, inhibitory control, and memory. Previous studies have mainly investigated cognitive differences between breed groups, and information on individual dog breeds is scarce. As a result, findings are often contradictory and inconsistent. The aim of this study was to provide more clarity on between-breed differences of cognitive traits in dogs. We examined the performance of 13 dog breeds (N = 1002 dogs) in a standardized test battery. Significant breed differences were found for understanding of human communicative gestures, following a human's misleading gesture, spatial problem-solving ability in a V-detour task, inhibitory control in a cylinder test, and persistence and human-directed behaviour during an unsolvable task. Breeds also differed significantly in their behaviour towards an unfamiliar person, activity level, and exploration of a novel environment. No significant differences were identified in tasks measuring memory or logical reasoning. Breed differences thus emerged mainly in tasks measuring social cognition, problem-solving, and inhibitory control. Our results suggest that these traits may have come under diversifying artificial selection in different breeds. These results provide a deeper understanding on breed-specific traits in dogs.
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Solución de Problemas , Cognición Social , Perros , Animales , Humanos , Cruzamiento , Comunicación , AtenciónRESUMEN
We evaluated the effect of the dog-owner relationship on dogs' emotional reactivity, quantified with heart rate variability (HRV), behavioral changes, physical activity and dog owner interpretations. Twenty nine adult dogs encountered five different emotional situations (i.e., stroking, a feeding toy, separation from the owner, reunion with the owner, a sudden appearance of a novel object). The results showed that both negative and positive situations provoked signs of heightened arousal in dogs. During negative situations, owners' ratings about the heightened emotional arousal correlated with lower HRV, higher physical activity and more behaviors that typically index arousal and fear. The three factors of The Monash Dog-Owner Relationship Scale (MDORS) were reflected in the dogs' heart rate variability and behaviors: the Emotional Closeness factor was related to increased HRV (p = 0.009), suggesting this aspect is associated with the secure base effect, and the Shared Activities factor showed a trend toward lower HRV (p = 0.067) along with more owner-directed behaviors reflecting attachment related arousal. In contrast, the Perceived Costs factor was related to higher HRV (p = 0.009) along with less fear and less owner-directed behaviors, which may reflect the dog's more independent personality. In conclusion, dogs' emotional reactivity and the dog-owner relationship modulate each other, depending on the aspect of the relationship and dogs' individual responsivity.
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We tested the possibility that vgll3, a gene linked with maturation age in Atlantic salmon (Salmo salar), may be associated with behaviour by measuring aggressiveness and feeding activity in 380 juveniles with different vgll3 genotypes. Contrary to our prediction, individuals with the genotype associated with later maturation (vgll3*LL) were significantly more aggressive than individuals with the genotype associated with earlier maturation (vgll3*EE). Individuals with higher aggression were also significantly lighter in colour and had higher feeding activity. Although higher aggression was associated with higher feeding activity, there was no association between feeding activity and vgll3 genotype. Increased aggression of vgll3*LL individuals was independent of their sex and size, and genotypes did not differ in their condition factor. These results imply that aggressive behaviour may have an energetic cost impairing growth and condition, especially when food cannot be monopolized. This may have implications for individual fitness and aquaculture practices.
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Salmo salar , Agresión , Animales , Genotipo , Salmo salar/genética , Factores de Transcripción/genéticaRESUMEN
Sex differences in a variety of cognitive traits have long been reported in various species, including dogs. However, only a few canine studies have taken the possible effect of reproductive hormones into account. The aim of this study was to investigate the effects of sex and reproductive status of pet dogs (N = 1032) on two cognitive traits: inhibitory control and social cognition. Inhibitory control was assessed using the cylinder test, and the dogs' tendency to initiate social contact with a human during a problem-solving situation was assessed using the unsolvable task. Female dogs had a significantly higher success rate in the cylinder test compared to males, and they spent significantly more time in human-directed behavior during the unsolvable task. In contrast, males spent significantly more time in independent behavior during the unsolvable task. Reproductive status had no significant effect on the results of the cylinder test or the unsolvable task. Our results showed that female dogs asked for more help/used a more cooperative strategy during a problem-solving situation and had greater inhibitory control compared to males. According to our results, it seems likely that these sex differences were not influenced to a large extent by reproductive hormones.
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Behaviour problems and anxieties in dogs decrease their quality of life and may lead to relinquishment or euthanasia. Considering the large number of pet dogs and the commonness of these problematic behaviours, a better understanding of the epidemiology and related molecular and environmental factors is needed. We have here studied the prevalence, comorbidity, and breed specificity of seven canine anxiety-like traits: noise sensitivity, fearfulness, fear of surfaces and heights, inattention/impulsivity, compulsion, separation related behaviour and aggression with an online behaviour questionnaire answered by dog owners. Our results show that noise sensitivity is the most common anxiety-related trait with a prevalence of 32% in 13,700 Finnish pet dogs. Due to the high prevalence of noise sensitivity and fear, they were the most common comorbidities. However, when comparing the relative risk, the largest risk ratios were seen between hyperactivity/inattention, separation related behaviour and compulsion, and between fear and aggression. Furthermore, dog breeds showed large differences in prevalence of all anxiety-related traits, suggesting a strong genetic contribution. As a result, selective breeding focusing on behaviour may reduce the prevalence of canine anxieties. Anxious animals may suffer from chronic stress and thus, modified breeding policies could improve the welfare of our companion dogs.
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Agresión/psicología , Trastornos de Ansiedad/epidemiología , Conducta Animal , Conducta Compulsiva/epidemiología , Enfermedades de los Perros/epidemiología , Animales , Trastornos de Ansiedad/fisiopatología , Trastornos de Ansiedad/psicología , Comorbilidad , Conducta Compulsiva/fisiopatología , Conducta Compulsiva/psicología , Enfermedades de los Perros/fisiopatología , Enfermedades de los Perros/psicología , Perros , Miedo/psicología , Femenino , Finlandia/epidemiología , Vínculo Humano-Animal , Humanos , Conducta Impulsiva , Masculino , Mascotas/psicología , Prevalencia , Calidad de Vida , Especificidad de la Especie , Encuestas y CuestionariosRESUMEN
What are the key factors of psychological resilience in dogs? Why do some individuals recover swiftly from neglect, abuse or several years of harsh kennel environments, while some seem to be permanently traumatized by much milder adverse experiences? Resilience is a concept seldom discussed in canine studies; however, many studies have identified risk factors (both environmental and genetic) for developing anxieties, aggression or other behavioral problems. These studies also indicate several factors that may act as protective agents against life adversities. In this paper, I will present some of the most commonly identified key factors of resilience in other species and discuss what has been found in dogs. This paper is an attempt to raise focus on the positive key factors in a dog's life that are important for dog welfare, a healthy psychological outcome and are also important building blocks of a happy and well-behaving pet.
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Dog ownership has been reported to have beneficial effects on physical activity and emotional well-being, both known to reduce the risk for type 2 diabetes (T2D). The aim of this study was to evaluate the association between dog ownership during the whole life course and having T2D in later life. The study subjects consisted of 731 people (307 men and 424 women) from the Helsinki Birth Cohort Study. We assessed dog ownership with questionnaires, for every decade of life as well as current dog ownership. We investigated the associations between dog ownership and T2D with generalised estimating equation models and with generalised linear models. At a mean age of 71.0 (standard deviation [SD] 2.6) years, 13% of the participants had T2D. Dog ownership prior to the clinical examination was not associated with T2D (p ≥ 0.51). In men, but not in women, current dog owners had greater odds of having T2D compared with the non-owners when adjusted for age when clinically examined, socio-economic status, smoking, leisure-time physical activity, chronic diseases (OR = 3.32, 95% confidence interval 1.25-8.79, p = 0.016). In the age group of people around 70 years, dog ownership is not associated with reduced odds for developing T2D. Abbreviations: BMI: body mass index; CI: confidence interval; GEE: generalised estimating equation; HBCS: Helsinki Birth Cohort Study; KIHD: Kuopio Ischemic Heart Disease; LTPA: leisure-time physical activity; MET: metabolic equivalent of task; OGTT: oral glucose tolerance test; OR: Odds ratio; SD: standard deviation; SES: socio-economic status; T2D: type 2 diabetes.
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Diabetes Mellitus Tipo 2/epidemiología , Mascotas , Factores de Edad , Anciano , Consumo de Bebidas Alcohólicas/epidemiología , Animales , Índice de Masa Corporal , Comorbilidad , Perros , Ejercicio Físico , Femenino , Finlandia/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Factores Sexuales , Fumar/epidemiología , Factores SocioeconómicosRESUMEN
Cat domestication and selective breeding have resulted in tens of breeds with major morphological differences. These breeds may also show distinctive behaviour differences; which, however, have been poorly studied. To improve the understanding of feline behaviour, we examined whether behavioural differences exist among cat breeds and whether behaviour is heritable. For these aims, we utilized our extensive health and behaviour questionnaire directed to cat owners and collected a survey data of 5726 cats. Firstly, for studying breed differences, we utilized logistic regression models with multiple environmental factors and discovered behaviour differences in 19 breeds and breed groups in ten different behaviour traits. Secondly, the studied cat breeds grouped into four clusters, with the Turkish Van and Angora cats alone forming one of them. These findings indicate that cat breeds have diverged not only morphologically but also behaviourally. Thirdly, we estimated heritability in three breeds and obtained moderate heritability estimates in seven studied traits, varying from 0.4 to 0.53, as well as phenotypic and genetic correlations for several trait pairs. Our results show that it is possible to partition the observed variation in behaviour traits into genetic and environmental components, and that substantial genetic variation exists within breed populations.
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Agresión/fisiología , Conducta Animal/fisiología , Estudios de Asociación Genética , Aseo Animal/fisiología , Carácter Cuantitativo Heredable , Animales , Gatos , Femenino , Interacción Gen-Ambiente , Variación Genética , Modelos Logísticos , Masculino , Selección Artificial , Timidez , Encuestas y CuestionariosRESUMEN
Anxiety-related disorders, including fearfulness are common and leading welfare problems among the worldwide dog population. The etiology of anxieties is complex and affected by genetic and environmental factors. Thus, there is a need for more comprehensive approaches, such as metabolomics, to understand the causes of anxiety and to identify anxiety-related biomarkers for more efficient diagnostic and treatment options. To study metabolic alterations related to canine fearfulness, a non-targeted plasma metabolite profiling was performed in a cohort of 20 fearful and 21 non-fearful dogs. The results showed that nine metabolic features were significantly associated with fearfulness. The most prominent change included increased plasma glutamine and γ-glutamyl glutamine (γ-Glu Gln) in fearful dogs across breeds. Alterations in glutamine metabolism have previously been associated with several psychiatric disorders, indicating the relevance of this finding also in dogs. In addition, we describe a novel breed-specific association between renal biomarker symmetric dimethylarginine (SDMA) and canine fearfulness. These observed metabolic alterations may result from high levels of prolonged psychological stress in fearful dogs.
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Dipéptidos/sangre , Perros/sangre , Miedo/fisiología , Glutamina/sangre , Animales , Ansiedad/sangre , Arginina/análogos & derivados , Arginina/sangre , Conducta Animal , Biomarcadores , Cruzamiento , Perros/clasificación , Perros/psicología , Femenino , Masculino , Metaboloma , Especificidad de la EspecieRESUMEN
Objective We investigated the association between dog ownership during the life course and leisure-time PA (LTPA) in late adulthood. Methods We included 714 participants (mean age = 70.8 ± 2.6 years) from the Helsinki Birth Cohort Study (HBCS). Dog ownership for every decade of life, current dog ownership, and current LTPA in metabolic equivalents of task (MET) were assessed with questionnaires. Age and sex adjusted generalized estimating equation models and analysis of regression were applied for the analyses. Results No significant age by dog ownership interaction on total, conditioning or non-conditioning LTPA was found (p ≥ .68). However, after the age of 40 years, dog ownership was increasingly associated with greater total and non-conditioning LTPA in later life. The mean difference in total LTPA, which was mostly explained by non-conditioning LTPA, was largest between the current dog owners and non-owners (15.2 MET-hours/week, 95% CI: 5.5-24.8, p = .002). ConclusionsCurrent dog ownership is associated with 15.2 MET-hours/week greater total LTPA compared to the non-owners. The differences were already observable after the age of 40. Thus, dog ownership induced increase in LTPA can have a positive influence on the aging processes and consequently positively influence healthy active aging.
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Ejercicio Físico , Envejecimiento Saludable , Actividades Recreativas , Mascotas , Caminata/estadística & datos numéricos , Adolescente , Adulto , Anciano , Animales , Niño , Preescolar , Perros , Femenino , Finlandia/epidemiología , Humanos , Lactante , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Propiedad , Adulto JovenRESUMEN
A rural environment and farming lifestyle are known to provide protection against allergic diseases. This protective effect is expected to be mediated via exposure to environmental microbes that are needed to support a normal immune tolerance. However, the triangle of interactions between environmental microbes, host microbiota, and immune system remains poorly understood. Here, we have studied these interactions using a canine model (two breeds, n = 169), providing an intermediate approach between complex human studies and artificial mouse model studies. We show that the skin microbiota reflects both the living environment and the lifestyle of a dog. Remarkably, the prevalence of spontaneous allergies is also associated with residential environment and lifestyle, such that allergies are most common among urban dogs living in single-person families without other animal contacts, and least common among rural dogs having opposite lifestyle features. Thus, we show that living environment and lifestyle concurrently associate with skin microbiota and allergies, suggesting that these factors might be causally related. Moreover, microbes commonly found on human skin tend to dominate the urban canine skin microbiota, while environmental microbes are rich in the rural canine skin microbiota. This in turn suggests that skin microbiota is a feasible indicator of exposure to environmental microbes. As short-term exposure to environmental microbes via exercise is not associated with allergies, we conclude that prominent and sustained exposure to environmental microbiotas should be promoted by urban planning and lifestyle changes to support health of urban populations.
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Exposición a Riesgos Ambientales , Hipersensibilidad , Microbiota/inmunología , Piel , Animales , Perros , Femenino , Humanos , Hipersensibilidad/inmunología , Hipersensibilidad/microbiología , Masculino , Ratones , Piel/inmunología , Piel/microbiología , Planificación Social , Remodelación UrbanaRESUMEN
Our companion-animals, dogs, suffer increasingly from non-communicable diseases, analogous to those common in humans, such as allergic manifestations. In humans, living in rural environments is associated with lower risk of allergic diseases. Our aim was to explore whether a similar pattern can be found in dogs, using a nation-wide survey in Finland (n = 5722). We characterised the land-use around dog's home at the time of birth as well as around its current home, and described several lifestyle factors. The severity of owner-reported allergic symptoms in dogs was estimated with a comprehensive set of questions, developed by experts of canine dermatology. Also, the prevalence of diagnosed allergies in dog owners was recorded. The results indicate that allergic symptoms are more prevalent in urban environments both in dog owners and in dogs (accounting the effect of dog breed). Several factors related to rural living, such as bigger family size and regular contact with farm animals and other pets, were also protective against allergic symptoms in dogs. Interestingly, allergic dogs were more likely to have allergic owners than healthy dogs were. Therefore, we suggest that the mutual presence of allergic symptoms in both species indicates common underlying causal factors of allergic diseases.
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Enfermedades de los Perros/epidemiología , Hipersensibilidad/epidemiología , Hipersensibilidad/veterinaria , Animales , Ciudades/epidemiología , Perros , Finlandia/epidemiología , Prevalencia , Población UrbanaRESUMEN
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a prevalent and multifactorial neuropsychiatric disorder in the human population worldwide. Complex etiology and clinical heterogeneity have challenged the research, diagnostics and treatment of the disease. Hyperactive and impulsive behaviour has also been observed in dogs, and they could offer a physiologically relevant model for human ADHD. As a part of our ongoing study to understand the molecular etiology of canine anxiety traits, this study was aimed to pilot an approach to identify metabolic biomarkers in canine ADHD-like behaviours for research, diagnostics and treatment purposes. METHODS: We collected fresh plasma samples from 22 German Shepherds with varying ADHD-like behaviours. All dogs were on the same controlled diet for 2 weeks prior to sampling. A liquid chromatography combined with mass spectrometry (LC-MS)-based non-targeted metabolite profiling was performed to identify plasma metabolites correlating with the ADHD-like behaviour of the dogs. RESULTS: 649 molecular features correlated with ADHD-like behavioural scores (praw < 0.05), and three of them [sn-1 LysoPC(18:3), PC(18:3/18:2) and sn-1 LysoPE(18:2)] had significant correlations also after FDR correction (pFDR < 0.05). Phospholipids were found to negatively correlate with ADHD-like behavioural scores, whereas tryptophan metabolites 3-indolepropionic acid (IPA) and kynurenic acid (KYNA) had negative and positive correlations with ADHD-like behavioural scores, respectively. CONCLUSIONS: Our study identified associations between canine ADHD-like behaviours and metabolites that are involved in lipid and tryptophan metabolisms. The identified metabolites share similarity with earlier findings in human and rodent ADHD models. However, a larger replication study is warranted to validate the discoveries prior to further studies to understand the biological role of the identified metabolites in canine ADHD-like behaviours.
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A comprehensive feline health survey was conducted to reveal breed-specific inheritable diseases in Finnish pedigree cats for genetic research. Prevalence of 19 disease categories and 227 feline diseases were defined in a study population of 8175 cats belonging to 30 breeds. Dental and oral diseases, with a prevalence of 28%, and dental calculus and gingivitis (21 and 8%, respectively) were the most prevalent disease category and diseases among all cats and in most of the breeds. An exception was Korats, which were more often affected by the diseases of the respiratory tract (23%) and asthma (19%). Other prevalent disease categories affected various organ systems, such as the skin (12%), the urinary system (12%), the digestive tract (11%), eyes (10%), the musculoskeletal system (10%), and genitals of female cats (17%). Prevalent health or developmental issues included repetitive vomiting (4%), tail kink (4%), feline odontoclastic resorption lesion (4%), urinary tract infections (4%), as well as cesarean section (6%) and stillborn kittens (6%) among female cats. We found 57 breed-specific conditions by Fisher's exact tests and logistic regression analyses, including 32 previously described and 19 new breed-specific diseases. The genetic defect has already been found in six of them: polycystic kidney disease, progressive retinal atrophy, hypertrophic cardiomyopathy, and three types of tail malformations. Behavioral profiling revealed breed-specific traits, such as an increased human avoidance in British Short and Longhairs and a higher level of aggression in Turkish vans. Our epidemiological study reveals the overall health profile in Finnish pure and mixed breed cats and identifies many breed-specific conditions without molecular identity for genetic research.
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BACKGROUND: Anxieties, such as shyness, noise phobia and separation anxiety, are common but poorly understood behavioural problems in domestic dogs, Canis familiaris. Although studies have demonstrated genetic and environmental contributions to anxiety pathogenesis, better understanding of the molecular underpinnings is needed to improve diagnostics, management and treatment plans. As a part of our ongoing canine anxiety genetics efforts, this study aimed to pilot a metabolomics approach in fearful and non-fearful dogs to identify candidate biomarkers for more objective phenotyping purposes and to refer to potential underlying biological problem. METHODS: We collected whole blood samples from 10 fearful and 10 non-fearful Great Danes and performed a liquid chromatography combined with mass spectrometry (LC-MS)-based non-targeted metabolite profiling. RESULTS: Non-targeted metabolomics analysis detected six 932 metabolite entities in four analytical modes [RP and HILIC; ESI(-) and ESI(+)], of which 239 differed statistically between the test groups. We identified changes in 13 metabolites (fold change ranging from 1.28 to 2.85) between fearful and non-fearful dogs, including hypoxanthine, indoxylsulfate and several phospholipids. These molecules are involved in oxidative stress, tryptophan and lipid metabolisms. CONCLUSIONS: We identified significant alterations in the metabolism of fearful dogs, and some of these changes appear relevant to anxiety also in other species. This pilot study demonstrates the feasibility of the non-targeted metabolomics and warrants a larger replication study to confirm the role of the identified biomarkers and pathways in canine anxiety.
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Ansiedad/fisiopatología , Perros/sangre , Perros/metabolismo , Perros/psicología , Miedo/fisiología , Estrés Oxidativo/fisiología , Triptófano/sangre , Animales , Ansiedad/psicología , Biomarcadores/sangre , Cromatografía Liquida , Miedo/psicología , Metabolismo de los Lípidos , Masculino , Espectrometría de Masas , Metabolómica , Proyectos PilotoRESUMEN
Personality and anxiety disorders across species are affected by genetic and environmental factors. Shyness-boldness personality continuum exists across species, including the domestic dog, with a large within- and across-breed variation. Domestic dogs are also diagnosed for several anxiety-related behavioral conditions, such as generalized anxiety disorders, phobias, and separation anxiety. Genetic and environmental factors contributing to personality and anxiety are largely unknown. We collected questionnaire data from a Finnish family dog population (N = 3264) in order to study the associating environmental factors for canine fearfulness, noise sensitivity, and separation anxiety. Early life experiences and exercise were found to associate with anxiety prevalence. We found that fearful dogs had less socialization experiences (p = 0.002) and lower quality of maternal care (p < 0.0001) during puppyhood. Surprisingly, the largest environmental factor associating with noise sensitivity (p < 0.0001) and separation anxiety (p = 0.007) was the amount of daily exercise; dogs with noise sensitivity and separation anxiety had less daily exercise. Our findings suggest that dogs share many of the same environmental factors that contribute to anxiety in other species as well, such as humans and rodents. Our study highlights the importance of early life experiences, especially the quality of maternal care and daily exercise for the welfare and management of the dogs, and reveals important confounding factors to be considered in the genetic characterization of canine anxiety.
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Ansiedad/fisiopatología , Conducta Animal , Enfermedades de los Perros/fisiopatología , Animales , Ansiedad/genética , Enfermedades de los Perros/genética , PerrosRESUMEN
Phenotyping behavior is difficult, partly because behavior is almost always influenced by environment. Using objective terms/criteria to evaluate behaviors is best; the more objective the assessment, the more likely underlying genetic patterns will be identified. Behavioral pathologies, and highly desirable behavioral characteristics/traits, are likely complex, meaning that multiple genes are probably involved, and therefore simple genetic tests are less possible. Breeds can be improved using traditional quantitative genetic methods; unfortunately, this also creates the possibility of inadvertently selecting for covarying undesirable behaviors. Patterns of behaviors within families and breed lines are still the best guidelines for genetic counseling in dogs.
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Conducta Animal/fisiología , Perros/genética , Veterinarios , Animales , Cruzamiento , Perros/fisiología , GenotipoRESUMEN
Glaucoma is an optic neuropathy and one of the leading causes of blindness. Its hereditary forms are classified into primary closed-angle (PCAG), primary open-angle (POAG) and primary congenital glaucoma (PCG). Although many loci have been mapped in human, only a few genes have been identified that are associated with the development of glaucoma and the genetic basis of the disease remains poorly understood. Glaucoma has also been described in many dog breeds, including Dandie Dinmont Terriers (DDT) in which it is a late-onset (>7 years) disease. We designed clinical and genetic studies to better define the clinical features of glaucoma in the DDT and to identify the genetic cause. Clinical diagnosis was based on ophthalmic examinations of the affected dogs and 18 additionally investigated unaffected DDTs. We collected DNA from over 400 DTTs and a genome wide association study was performed in a cohort of 23 affected and 23 controls, followed by a fine mapping, a replication study and candidate gene sequencing. The clinical study suggested that ocular abnormalities including abnormal iridocorneal angles and pectinate ligament dysplasia are common (50% and 72%, respectively) in the breed and the disease resembles human PCAG. The genetic study identified a novel 9.5 Mb locus on canine chromosome 8 including the 1.6 Mb best associated region (p = 1.63 × 10(-10), OR = 32 for homozygosity). Mutation screening in five candidate genes did not reveal any causative variants. This study indicates that although ocular abnormalities are common in DDTs, the genetic risk for glaucoma is conferred by a novel locus on CFA8. The canine locus shares synteny to a region in human chromosome 14q, which harbors several loci associated with POAG and PCG. Our study reveals a new locus for canine glaucoma and ongoing molecular studies will likely help to understand the genetic etiology of the disease.