A new Finnish flavor of feline coat coloration, "salmiak," is associated with a 95-kb deletion downstream of the KIT gene.

Cats with a distinctive white hair pattern of unknown molecular cause have been discovered in the Finnish domestic cat population. Based on the unique appearance of these cats, we have named this phenotype salmiak ("salty licorice"). The use of a commercially available panel test to genotype four salmiak-colored cats revealed the absence of all known variants associated with white-haired phenotypic loci: full White (W), Spotting (Ws) and the Birman white Gloves associated (wg) allele of the KIT proto-oncogene (KIT) gene. Whole-genome sequencing on two salmiak-colored cats was conducted to search for candidate causal variants in the KIT gene. Despite a lack of coding variants, visual inspection of the short read alignments revealed a large ~95 kb deletion located ~65 kb downstream of the KIT gene in the salmiak cats. Additional PCR genotyping of 180 domestic cats and three salmiak-colored cats confirmed the homozygous derived variant genotype fully concordant with the salmiak phenotype. We suggest the newly identified variant be designated as wsal for "w salmiak".

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ("screw tail") in English Bulldogs, French Bulldogs and Boston Terriers. These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such as DVL1 and DVL3. Based on these phenotypic and genetic similarities, it has previously been hypothesized that the canine DVL2 variant results in a syndromic phenotype called the Robinow-like syndrome. In our study, we investigated the distribution of the DVL2 variant in 1954 dogs from 15 breeds, identifying breeds with allele variation and enabling the dissection of the genotype-phenotype correlation for the first time. With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects. Altogether, our study strengthens the role of DVL2 as one of the contributors to the "bulldog type" morphology and features on the spectrum of human Robinow syndrome.

Fertility resilience varies by socioeconomic status and sex: Historical trends in childlessness across 150 years.

Fertility dynamics are key drivers of demographic change in a population. Fertility resilience is likely to vary by socioeconomic class, yet little investigated. Using a unique dataset tracking the reproduction of family lineages for 150 years, we explored childlessness by socioeconomic status and sex during the demographic transition and recurring societal and economic disturbances in Finland. Lifetime childlessness doubled from the 1800 birth cohort to the 1945-1949 cohort. Higher socioeconomic status (SES) indicated higher lifetime likelihood to reproduce. The fluctuations in childlessness over time appeared to be driven by the low socioeconomic group, showing low fertility resilience. In contrast, a steady increase was seen in high and moderate SES. Our findings suggest that the family formation of lower socioeconomic groups suffers the most during crises and does not necessarily recuperate. Preventing inequalities in family formation and reproduction should be recognized as a key challenge for population resilience to crises.

Development and validation of the puppy blues scale measuring temporary affective disturbance resembling baby blues.

It has been described that many puppy owners experience a state called puppy blues involving stress, worry, anxiety, strain, frustration, or regret. While puppy blues is a commonly used term among dog owners, the term is nearly nonexistent in scientific literature. In turn, analogous phenomenon, postpartum affective disturbance of infant caregivers, is well described in the literature. This study aimed to develop and validate the first questionnaire to evaluate puppy blues. The methodology involved generating scale items based on a qualitative review of 135 pilot survey responses from people who had experienced distress during the puppy period, conducting exploratory factor analysis for the final scale items from a dataset of 1801 answers from Finnish dog owners (92% women), and collecting test-retest data from 265 individuals to assess the consistency of the measurement of items and factor structure across time. In addition, we collected an independent sample of 326 owners of 1-2-year-old dogs who answered the survey both regarding puppy period and current moment. The results indicate that the scale is a valid and reliable tool for measuring dog owners' negative experiences and feelings related to puppyhood. We discovered three factors that describe different aspects of puppy blues: Frustration, Anxiety, and Weariness, which accounted for a significant proportion of the variance in puppy blues. The study demonstrated good internal consistency and consistency across two independent samples for the three identified factors. The test-retest reliability of the factors was good. Responses for the current timeframe compared to puppyhood experiences revealed significantly lower current scores across all factors for the current period, validating that the scale captures distress during puppyhood that diminishes over time. Interestingly, we found a fading affect bias where recollections of the experiences in the puppy period became more positive with time. Our findings shed light on the characteristics of puppy blues and provide a useful retrospective tool for measuring it.

Feline litter box issues associate with cat personality, breed, and age at sterilization.

OBJECTIVE: To identify potential risk factors for feline litter box issues (eg, house soiling). ANIMALS: 3,049 privately owned cats. PROCEDURES: Data were collected using a validated, owner-completed survey with convenience sampling. The feline behavior and personality survey included 138 statements related to cat behavior and questions concerning cat background and health. Statements related to litter box issues were subjected to factor analysis. Associations between the identified factors and personality and background variables were studied using generalized linear models. Strength of these associations (ie, importance) was evaluated by calculating relative and absolute effect sizes. RESULTS: Factor analysis yielded 2 factors: house soiling and litter box fussiness. This study suggests that fearful cats are more prone to both forms of litter box issues than nonfearful individuals. Other associations we found differed between factors. For example, low sociability toward cats, male sex, and being intact associated only with increased house soiling and older age only with litter box fussiness. The most important variables in the litter box models (ie, sociability toward cats, breed, and activity/playfulness) failed to reach the suggested cutoff for a small effect size. CLINICAL RELEVANCE: Numerous variables are thought to influence litter box issues, but few studies have examined their relevance. Here, we studied the associations of over 30 background variables and personality traits with 2 litter box issue factors to estimate their importance at the population level. Our results bring new knowledge to this field and may contribute to finding new solutions for these complex issues in the future.

Pet and owner personality and mental wellbeing associate with attachment to cats and dogs.

Human-pet attachment can impact the life of both parties, and the identification of underlying characteristics related to attachment style can improve human-pet relationships. We employed structural equation modeling (SEM) to explore associations between human, dog, and cat personalities, owner mental well-being, unwanted pet behavior, and attachment styles in a sample of 2,724 Finnish pet owners (92% women) and their 2,545 dogs and 788 cats. Our findings reveal that owner neuroticism and poor mental well-being are linked to anxious pet attachment in both dog and cat owners. Pet characteristics, such as unwanted behavior and lower human sociability are associated with avoidant attachment style. Overall, this study highlights the significance of individual traits in both pets and owners contributing to insecure attachment styles and underscores the potential to enhance the well-being of both pets and their owners through a deeper understanding of these traits.

Breed, age, and social environment are associated with personality traits in dogs.

Personality in pets and other domesticated animals is important for their well-being and it can also influence human-animal relationships. Genetic and environmental factors influencing unwanted behavior in dogs are somewhat well known, but the factors influencing dog personality remain understudied. Here we examined environmental and demographic factors associated with seven broad personality traits in a survey of over 11,000 dogs. We utilized linear models and extensive model validation to examine the factors that have the most significant influences on personality and calculated effect sizes to assess the importance of these variables. Breed and age had the strongest associations with dog personality traits. Some environmental factors, especially puppyhood socialization, were also associated with personality. All factors had small effect sizes, highlighting that a lot of variation in personality remains unexplained. Our results indicate that personality traits are complex and strikingly similar in dogs, humans, and other nonhuman animals.

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.

BACKGROUND: Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiology; however, as a complex disease, the exact genetic risk factors are largely unknown, and many patients remain without a molecular diagnosis. METHODS: We performed GWAS followed by whole-genome, transcriptome, and immunohistochemical analyses in a spontaneously occurring canine model of DCM. Canine gene discovery was followed up in three human DCM cohorts. RESULTS: Our results revealed two independent additive loci associated with the typical DCM phenotype comprising left ventricular systolic dysfunction and dilatation. We highlight two novel candidate genes, RNF207 and PRKAA2, known for their involvement in cardiac action potentials, energy homeostasis, and morphology. We further illustrate the distinct genetic etiologies underlying the typical DCM phenotype and ventricular premature contractions. Finally, we followed up on the canine discoveries in human DCM patients and discovered candidate variants in our two novel genes. CONCLUSIONS: Collectively, our study yields insight into the molecular pathophysiology of DCM and provides a large animal model for preclinical studies.

Fearfulness associates with problematic behaviors and poor socialization in cats.

Problematic behavior is a remarkable welfare issue in cats (Felis catus), as it is one of the most common reasons for relinquishment. The probability of developing problematic behaviors is likely influenced by several variables, but these remain little studied. In this study, we examined the associations of fearfulness, aggression toward humans, and excessive grooming with nearly thirty variables in a survey dataset of over 3,200 cats. To identify the most important variables influencing these behaviors, we used generalized linear models. All behaviors were associated with each other suggesting comorbidity between problematic behaviors. Breed and several environmental variables were also associated with behaviors. Poor socialization with humans and a history of being a rescue cat were associated with higher fearfulness, indicating that the proper socialization of kittens is beneficial for avoiding fear-related problematic behaviors. Overall, our study highlights the complexity of three problematic behaviors in cats.

Age, breed, sex and diet influence serum metabolite profiles of 2000 pet dogs.

As an individual's metabolism reflects health and disease states well, metabolomics holds a vast potential in biomedical applications. However, normal physiological factors, such as age, can also influence metabolism, challenging the establishment of disease-specific metabolic aberrations. Here, we examined how physiological and diet-related factors drive variance in the metabolism of healthy pet dogs. We analysed 2068 serum samples using a canine nuclear magnetic resonance (NMR) spectroscopy-based metabolomics platform. With generalized linear models, we discovered that age, breed, sex, sterilization, diet type and fasting time significantly affected the canine metabolite profiles. Especially, breed and age caused considerable variation in the metabolite concentrations, and breeds with very different body conformations systematically differed in several lipid measurands. Our results enhance the understanding how normal physiological factors influence canine metabolism, aid accurate interpretation of the NMR results, and suggest the NMR platform might be applied in identifying aberrations in nutrient absorption and metabolism.

Aggressiveness, ADHD-like behaviour, and environment influence repetitive behaviour in dogs.

Repetitive behaviour ranges from variants of normal repetitive behaviours to abnormal repetitive behaviours. The domestic dog spontaneously performs different repetitive behaviours, which can be severe and impair the quality of life and the dog-owner relationship. We collected comprehensive behavioural questionnaire data from almost 4500 Finnish pet dogs and studied the effect of several demographic, environmental, and behavioural factors on canine repetitive behaviour with logistic regression. We replicated findings from previous studies by revealing comorbidity between repetitive behaviour and behavioural factors aggressiveness, hyperactivity/impulsivity, and inattention. We also found a novel association between repetitive behaviour and the owner's dog experience. In addition, we showed that repetitive behaviour is more common in dogs that live without conspecifics, dogs that were given a low amount of exercise, dogs that lived in larger families, young dogs and elderly dogs, and neutered dogs. Finally, we identified breed differences in repetitive behaviour, suggesting that some breeds are more vulnerable to repetitive behaviour and indicate a genetic susceptibility. As abnormal repetitive behaviour can considerably worsen the well-being of dogs and impair the dog-owner relationship, a better understanding of the environmental, lifestyle, and molecular factors affecting canine repetitive behaviour can benefit both dogs and humans.

Personality traits associate with behavioral problems in pet dogs.

Personality traits, especially neuroticism, strongly predict psychopathology. The domestic dog (Canis lupus familiaris Linnaeus, 1758) is used as a natural model for psychiatric disorders, but the similarity between dog and human personality and the association between dog personality and unwanted behavioral traits, such as fearfulness, aggressiveness, and impulsivity/inattention, remain unknown. This study utilized structural equation modeling (SEM) with survey data of 11,360 dogs to examine the associations and correlations between seven personality and ten unwanted behavioral traits. Personality traits included insecurity, energy, training focus, aggressiveness/dominance, human sociability, dog sociability, and perseverance. Unwanted behavioral traits included fearfulness, noise sensitivity, fear of surfaces/heights, separation anxiety, barking, stranger-directed aggression, owner-directed aggression, dog-directed aggression, hyperactivity/impulsivity, and inattention. We first fitted confirmatory factor models for the unwanted behavioral traits and the best model grouped unwanted behaviors into four latent traits: fear-related behavior, fear-aggression, aggression, and impulsivity/inattention and used this structure in the subsequent SEM model. Especially, insecurity, which resembles the human neuroticism trait, was strongly associated with unwanted behavior, paralleling the association between neuroticism and psychopathology. Similarly, training focus, resembling conscientiousness, was negatively related to impulsivity/inattention, and aggressiveness/dominance was associated with aggressive behaviors, resembling associations of conscientiousness and agreeableness with attention deficit hyperactivity disorder and aggression-related psychopathology, respectively. These results indicate that dog personality traits resemble human personality traits, suggesting that their neurological and genetic basis may also be similar and making the dog a suitable animal model for human behavior and psychiatric disorders.

Reliability and Validity of Seven Feline Behavior and Personality Traits.

Domestic cats are popular pets, and they have personalities, with stable behavior differences between individuals. Lately, feline behavior and personality have been studied with different approaches, for example, with owner-completed questionnaires. The majority of these studies, however, lack a sufficient validation and reliability assessment of the questionnaires used. We designed an online feline behavior and personality questionnaire to collect cat behavior data from their owners. Then, we ran a factor analysis to study the structure of personality and behavior in a dataset of over 4300 cats. For validation, we studied the internal consistency, test-retest reliability, inter-rater reliability, convergent validity and discriminant validity of this questionnaire and extracted factors. In addition, we briefly examined breed differences in the seven discovered factors: fearfulness, activity/playfulness, aggression toward humans, sociability toward humans, sociability toward cats, excessive grooming and litterbox issues. Most of the rank ordering of breeds within each trait paralleled what has been found in previous studies. The validity and reliability of the questionnaire and factors were good, strengthening owner-completed questionnaires as a method to collect behavioral data from pet animals. Breed differences suggest a genetic background for personality. However, these differences should be studied further with multidimensional models, including environmental and biological variables.

Reliability and Validity of a Dog Personality and Unwanted Behavior Survey.

Dogs have distinct, consistent personalities, but the structure of dog personality is still unclear. Dog personality and unwanted behavior are often studied with behavioral questionnaires. Even though many questionnaires are reliable and valid measures of behavior, all new questionnaire tools should be extensively validated. Here, we examined the structure of personality and six unwanted behavior questionnaire sections: noise sensitivity, fearfulness, aggression, fear of surfaces and heights, separation anxiety and impulsivity/inattention with factor analyses. Personality consisted of seven factors: Insecurity, Training focus, Energy, Aggressiveness/dominance, Human sociability, Dog sociability and Perseverance. Most unwanted behavior sections included only one factor, but the impulsivity/inattention section divided into two factors (Hyperactivity/impulsivity and Inattention) and the aggression section into four factors (Barking, Stranger directed aggression, Owner directed aggression and Dog directed aggression). We also examined the internal consistency, test-retest reliability, inter-rater reliability and convergent validity of the 17 personality and unwanted behavior traits and discovered excellent reliability and validity. Finally, we investigated the discriminant validity of the personality traits, which was good. Our findings indicate that this personality and unwanted behavior questionnaire is a reliable and valid tool that can be used to study personality and behavior extensively.

Aggressive behaviour is affected by demographic, environmental and behavioural factors in purebred dogs.

Aggressive behaviour is an unwanted and serious problem in pet dogs, negatively influencing canine welfare, management and public acceptance. We aimed to identify demographic and environmental factors associated with aggressive behaviour toward people in Finnish purebred pet dogs. We collected behavioural data from 13,715 dogs with an owner-completed online questionnaire. Here we used a dataset of 9270 dogs which included 1791 dogs with frequent aggressive behaviour toward people and 7479 dogs without aggressive behaviour toward people. We studied the effect of several explanatory variables on aggressive behaviour with multiple logistic regression. Several factors increased the probability of aggressive behaviour toward people: older age, being male, fearfulness, small body size, lack of conspecific company, and being the owner's first dog. The probability of aggressive behaviour also differed between breeds. These results replicate previous studies and suggest that improvements in the owner education and breeding practices could alleviate aggressive behaviour toward people while genetic studies could reveal associated hereditary factors.

Canine hyperactivity, impulsivity, and inattention share similar demographic risk factors and behavioural comorbidities with human ADHD.

Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder impairing the quality of life of the affected individuals. The domestic dog can spontaneously manifest high hyperactivity/impulsivity and inattention which are components of human ADHD. Therefore, a better understanding of demographic, environmental and behavioural factors influencing canine hyperactivity/impulsivity and inattention could benefit both humans and dogs. We collected comprehensive behavioural survey data from over 11,000 Finnish pet dogs and quantified their level of hyperactivity/impulsivity and inattention. We performed generalised linear model analyses to identify factors associated with these behavioural traits. Our results indicated that high levels of hyperactivity/impulsivity and inattention were more common in dogs that are young, male and spend more time alone at home. Additionally, we showed several breed differences suggesting a substantial genetic basis for these traits. Furthermore, hyperactivity/impulsivity and inattention had strong comorbidities with compulsive behaviour, aggressiveness and fearfulness. Multiple of these associations have also been identified in humans, strengthening the role of the dog as an animal model for ADHD.

Active and social life is associated with lower non-social fearfulness in pet dogs.

Behavioural problems are leading welfare issues in domestic dogs. In particular, anxiety-related behavioural problems, such as fearfulness and noise sensitivity are highly prevalent conditions that cause distress to fearful dogs. To better understand the environmental factors associated with non-social fear, including noise sensitivity, fear of novel situations, and fear of surfaces and heights, a large online survey including data on 13,700 Finnish pet dogs was performed by the dog owners. After fulfilling inclusion criteria, this data consisted of 9,613 dogs with fear of fireworks, 9,513 dogs with fear of thunder, 6,945 dogs with fear of novel situations, and 2,932 dogs with fear of surfaces and heights. Logistic regression analyses revealed that dogs with frequent non-social fear had experienced less socialisation during puppyhood, were more often neutered, had inexperienced owners, lived without conspecifics, participated less frequently in activities or training, and lived in more urban environments. In addition, we identified several breed differences, and a tendency of more common non-social fear in small dog breeds, which suggests a genetic background. Non-social fearfulness has a negative effect on well-being of the dogs. Our findings suggest that the socialisation and the living environment and the value of other dogs' company and owner interaction via activities and training may improve the well-being of the dogs.

Prevalence, comorbidity, and breed differences in canine anxiety in 13,700 Finnish pet dogs.

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.

Inadequate socialisation, inactivity, and urban living environment are associated with social fearfulness in pet dogs.

Problematic behaviours are severe welfare issues for one of the world's most popular pets, the domestic dog. One of the most prevalent behavioural problem that causes distress to dogs is social fearfulness, meaning fear of conspecifics or unfamiliar people. To identify demographic and environmental factors associated with fear of dogs and strangers, logistic regression was utilised with a large dataset of 6,000 pet dogs collected through an owner-filled behavioural survey. Social fearfulness was associated with several factors, including urban environment, poor socialisation during puppyhood, infrequent participation in training and other activities, small body size, female sex, and neutering. In addition, we identified several breed differences, suggesting a genetic contribution to social fearfulness. These findings highlight the role of inadequate socialisation, inactivity, and urban living environmental in fear-related behavioural problems in dogs. Improvements in the management and breeding practices of dogs could, therefore, enhance the welfare of man's best friend.

Breed differences of heritable behaviour traits in cats.

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.