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This commentary reflects on Jang and Choi’s (this volume) chapter summarizing the extent work on behavior and molecular genetic studies of personality disorder (PD). The authors argue that more work needs to be done on refining the PD phenotype, as most work in genetics to date has utilized categorical definitions of PD, even though clinical psychology generally and the field of PDs specifically is moving resolutely toward a dimensional conceptualization (as represented in the alternative model of PDs in the DSM-5). They also argue that the real benefit of both quantitative and measured gene approaches to studying PDs might not be the elucidation of more precise heritability estimates or even the identification of specific genes, but the contribution of environmental influences to maladaptive personality traits.
This rejoinder uses the neuroimaging literature on affect regulation to exemplify how integration of complementary methods suggested by the commentaries could advance neurobiological understanding of personality disorders. It illustrates progressive insights gained from incorporating multiple sources of evidence including neuroimaging, genetics, and behavioral data associated with affect regulation. It also demonstrates the use of brain pattern activation analysis in addition to studying individual regions of interest to better understand the complex relationships between biological genotype, brain activity, and behavioral phenotype. The ways in which neuroimaging can serve as an endophenotype to bridge the gap between genes and distant phenotypes are highlighted.
A new fast-growing mycobacterium, designated strain QGD101T, was isolated from the sputum of an 84-year-old man suspected of tuberculosis in Wuhan Medical Treatment Center, Hubei, China. This strain was a gram-staining-negative, aerobic, non-spore-forming and catalase-positive bacterium, which was further identified as the NTM by PNB and TCH tests. The moxifloxacin and levofloxacin exhibited strong suppressing function against QGD101T with MIC values of 0.06 and 0.125 µg/ml after drug susceptibility testing of six main antimicrobial agents on mycobacteria. Based on the sequence analysis of 16S rRNA, rpoB, hsp65 and 16S-23S rRNA internal transcribed spacer, the strain QGD101T could not be identified to a species level. Mycobacterium moriokaense ATCC43059T that shared the highest 16S rRNA gene sequence similarity (98%) with strain QGD101T was actually different in genomes average nucleotide identity (78.74%). In addition, the major cellular fatty acids of QGD101T were determined as C18:1ω9c, C16:0 and C18:2ω6c. The DNA G + C content was 64.9% measured by high performance liquid chromatography. Therefore, the phenotypic and genotypic characterisation of this strain led us to the conclusion that it represents a novel species of mycobacteria, for which the name Mycobacterium hubeiense sp. nov. (type strain QGD101T = CCTCCAA 2017003T = KCTC39927T) was proposed. Thus, the results of this study are very significant for the clinical diagnosis of tuberculosis and future personalised medicine.
Racial fluidity and mixed phenotype have been posited as critical barriers to politicized black identity in the region. Using an original, survey experiment in Panama, this paper finds that racial fluidity and phenotype significantly affect who identifies as black, but have relatively little impact on the strength of measures of black group consciousness. Rather than reducing the strength of group consciousness all together, racial fluidity and phenotype influence the salience of different measures of group consciousness. Afro-Panamanians with phenotypic features that stably predict black self-identification express stronger beliefs that racial discrimination is a problem in Panama (perceived discrimination) and greater dissatisfaction with the social standing of their in-group (polar power). In contrast, Afro-Panamanians with mixed phenotypic features express stronger in-group affect (pride), stronger belief in the efficacy of black collective mobilization (collective efficacy), and stronger linked fate.
Hypertrophic cardiomyopathy is an autosomal dominant hereditary disease characterised by left ventricular asymmetry hypertrophy. However, our knowledge of the genetic background in hypertrophic cardiomyopathy cases is limited. Here, we aimed to evaluate pathogenic gene mutations in a family with high-risk hypertrophic cardiomyopathy and analyse the genotype/phenotype relationships in this family.
The proband, her parents, and her niece underwent whole-exome sequencing, and the genotypes of family members were identified using Sanger sequencing. mRNA expression was detected using reverse transcription sequencing. Structural impairments were predicted by homologous modelling. A family survey was conducted for patients with positive results to obtain information on general clinical symptoms, electrocardiography, ambulatory electrocardiography, echocardiography, and 3.0T cardiac magnetic resonance findings. Regular follow-up was performed for up to 6 months.
Five family members, including the proband, carried a cleavage site mutation in the MYBPC3 gene (c.2737+1 (IVS26) G>T), causing exon 26 of the MYBPC3 gene transcript to be skipped and leading to truncation of cardiac myosin-binding protein C. Family survey showed that the earliest onset age was 13 years old, and three people had died suddenly at less than 40 years old. Three pathogenic gene carriers were diagnosed with hypertrophic cardiomyopathy, and all showed severe ventricular septal hypertrophy.
The c.2737+1 (IVS26) G>T mutation in the MYBPC3 gene led to exon 26 skipping, thereby affecting the structure and function of cardiac myosin-binding protein C and leading to severe ventricular hypertrophy and sudden death.
Compulsivity can be seen across various mental health conditions and refers to a tendency toward repetitive habitual acts that are persistent and functionally impairing. Compulsivity involves dysfunctional reward-related circuitry and is thought to be significantly heritable. Despite this, its measurement from a transdiagnostic perspective has received only scant research attention. Here we examine both the psychometric properties of a recently developed compulsivity scale, as well as its relationship with compulsive symptoms, familial risk, and reward-related attentional capture.
Two-hundred and sixty individuals participated in the study (mean age = 36.0 [SD = 10.8] years; 60.0% male) and completed the Cambridge-Chicago Compulsivity Trait Scale (CHI-T), along with measures of psychiatric symptoms and family history thereof. Participants also completed a task designed to measure reward-related attentional capture (n = 177).
CHI-T total scores had a normal distribution and acceptable Cronbach’s alpha (0.84). CHI-T total scores correlated significantly and positively (all p < 0.05, Bonferroni corrected) with Problematic Usage of the Internet, disordered gambling, obsessive-compulsive symptoms, alcohol misuse, and disordered eating. The scale was correlated significantly with history of addiction and obsessive-compulsive related disorders in first-degree relatives of participants and greater reward-related attentional capture.
These findings suggest that the CHI-T is suitable for use in online studies and constitutes a transdiagnostic marker for a range of compulsive symptoms, their familial loading, and related cognitive markers. Future work should more extensively investigate the scale in normative and clinical cohorts, and the role of value-modulated attentional capture across compulsive disorders.
Personalised nutrition allows individual differences in dietary, lifestyle, anthropometry, phenotype and/or genomic profile to be used to direct specific dietary advice. For personalised nutrition advice to be effective both sides need to be considered; firstly, that factors influencing variation in response to dietary intervention are identified and appropriate advice can be derived and secondly; that these are then used effectively in the provision of nutrition advice, resulting in a positive dietary and/or lifestyle behaviour change. There is considerable evidence demonstrating genetic and phenotypic influence on the biological response to the consumption of nutrients and bioactives. However, findings are often mixed, with studies often investigating at the level of a single nutrient/bioactive and/or a single genetic/phenotypic variation, meaning the derivation of specific advice at a dietary level in an individual/group of individuals can be complex. Similarly, the impact of using this information to derive personalised advice is also mixed, with some studies demonstrating no effectiveness and others showing a significant impact. The present paper will outline examples of phenotypic and genetic variation influencing response to nutritional interventions, and will consider how they could be used in the provision of personalised nutrition.
The clinical manifestation and course of Leishmania infections depend on factors such as species, virulence and host-immunity. Although trypanosomatids are considered to have clonal propagation, genetic hybridization has produced successful natural hybrid lineages. Hybrids displaying strong selective advantages may have an impact on pathogenesis and the eco-epidemiology of leishmaniasis. Thus, characterization of phenotypic properties of Leishmania hybrids could bring significant insight into the biology, infectivity, pathogenicity and transmission dynamics of these atypical strains. The present study focuses on phenotypic features and survival capacity of Leishmania infantum/Leishmania major hybrid isolates as compared with representative putative parental species, L. infantum and L. major. In vitro assays (growth kinetics, susceptibility to different conditions) and in vivo infection (parasite detection and histopathological alterations) showed that hybrids present higher growth capacity and decreased susceptibility to reactive oxygen species. Furthermore, evaluation of infected spleen tissue suggests that hybrids induce a stronger immune reaction than their putative parents, leading to the development of white pulp hyperplasia in B-lymphocyte compartments. Overall, these hybrids have shown high plasticity in terms of their general behaviour within the different phenotypic parameters, suggesting that they might have acquired genetic features conferring different mechanisms to evade host cells.
Borderline personality disorder (BPD) is characterized by a heterogeneous clinical phenotype that emerges from interactions among genetic, biological, neurodevelopmental, and psychosocial factors. In the present family study, we evaluated the familial aggregation of key clinical, personality, and neurodevelopmental phenotypes in probands with BPD (n = 103), first-degree biological relatives (n = 74; 43% without a history of psychiatric disorder), and non-psychiatric controls (n = 99).
Participants were assessed on DSM-IV psychiatric diagnoses, symptom dimensions of emotion dysregulation and impulsivity, ‘big five’ personality traits, and neurodevelopmental characteristics, as part of a larger family study on neurocognitive, biological, and genetic markers in BPD.
The most common psychiatric diagnoses in probands and relatives were major depression, substance use disorders, post-traumatic stress disorder, anxiety disorders, and avoidant personality disorder. There was evidence of familial aggregation for specific dimensions of impulsivity and emotion dysregulation, and the big five traits neuroticism and conscientiousness. Both probands and relatives reported an elevated neurodevelopmental history of attentional and behavioral difficulties.
These results support the validity of negative affectivity- and impulse-spectrum phenotypes associated with BPD and its familial risk. Further research is needed to investigate the aggregation of neurocognitive, neural and genetic factors in families with BPD and their associations with core phenotypes underlying the disorder.
Epidemiological studies in humans and animal models (including ruminants and horses) have highlighted the critical role of nutrition on developmental programming. Indeed, it has been demonstrated that the nutritional environment during the periconceptional period and foetal development can altered the postnatal performance of the resultant offspring. This nutritional programming can be exerted by maternal and paternal lineages and can affect offspring beyond the F1 generation. Alterations in epigenetic mechanisms have been proposed as the causative link behind the programming trajectories observed in the offspring. Although a clear cause–effect relationship between epigenetic modifications during early development and later offspring phenotype has not been demonstrated in livestock species, strong associations have been reported for some epigenetic marks (e.g. messenger RNA) that are worth exploring as possible predictors of future offspring phenotype. In this review, we shortly describe the main epigenetic mechanisms studied so far in mammals (i.e. mainly in the mouse) thought to be associated with developmental programming, and discuss the few studies available in mammalian herbivores (e.g. cattle) showing the effect of nutrition on epigenetic marks and the associated phenotype. Clearly, there is a need to develop research on nutritional strategies capable of modulating the epigenetic machinery with positive influence on the phenotype of livestock herbivores. This type of research is needed to alleviate the challenges currently faced by the livestock industry (e.g. impaired fertility of high-yielding dairy cows). This in turn will have a positive influence on animal welfare and productivity of livestock enterprises.
Early autism research focused on behavior and cognition. In recent decades, the pace of research has accelerated, and advances in imaging and genetics have allowed the accumulation of biological data. Nevertheless, a coherent picture of the syndrome at either phenotypic or biological level has not emerged. We see two fundamental obstacles to progress in basic understanding of autism. First, the two defining features (impairment in social interactions and communication, and restricted, repetitive behaviors and interests) are historically seen as integrally related. Others hold that these two major traits are fractionable and must be studied independently, casting doubt on autism as a coherent syndrome. Second, despite much recent research on brain structure and function, environmental factors, and genetics/genomics, findings on the biological level have not generally aligned well with those on the phenotypic level. In the first two sections, we explore these challenges, and in the third section, we review approaches that may facilitate progress, such as (1) including in studies all individuals defined by social impairment without regard to repetitive behaviors, (2) forming narrowly defined subtypes by thorough characterization on specific features, both diagnostic and non-diagnostic, (3) focusing on characteristics that may be relatively robust to environmental influence, (4) studying children as early as possible, minimizing environmental influence, and including longitudinal course as an important part of the phenotype, (5) subtyping by environmental risk factors, (6) distinguishing between what participants can do and what they typically do, and (7) aggregating large data sets across sites. (JINS, 2017, 23, 903–915)
While the concept and measurement of race has been a longstanding focus of social science research, capturing its significance requires a broader notion than utilizing only racial group categories. More recently, race has been treated as both a “characteristic” and a set of experiences that affect a multitude of life conditions and outcomes. This discussion and analysis moves away from treating race as only a categorical and static characteristic to a multi-dimensional concept that is dynamic, relational, and represents the intersection of individual, ecological, and structural components. By exploring the data collection of the Inter-University Consortium for Political and Social Research and studies that include race as a variable, we were able to trace how race has been used by social scientists over the past 60 years. Using an extensive coding protocol, we have attained key characteristics of the principal investigator(s) (PI), funders, scope of the overall study, and the use of different measures of race. As a result, this “meta-analysis” of social science surveys enabled this researcher to examine how these studies use a wide scope of racial “variables,” and the way in which PI characteristics affected the inclusion of race-related items. In addition, bivariate analysis is presented to examine social scientists’ tendencies in investigating race and inclusion of qualitative examples of item wordings and response categories. This overview of social science studies is placed in the context of conceptual and measurement issues surrounding the use and meaning of race. Hopefully this can serve to advance the discussion and strategic approaches in doing research about race and what should be incorporated in studying race as a lived experience.
The Korean native chicken (KNC) is believed to have existed in the Korean Peninsula more than 1,400 years ago. Since then, KNC have been bred only by private farmers in rural areas of Korea. In 1994, a KNC conservation program was established by the Korean government and, as a result, five lines were restored. KNC are considered to have a unique taste and texture that is more attractive to Korean consumers than meat from commercial broilers. However, the price of KNC is relatively high, which is mainly due to the breed's low growth rate, hence the limitations for industrial applications. In addition, their unique taste and texture in comparison with that of other broilers has been evaluated by scientists over the past few years. The general composition, physiochemical traits, content of taste-active and endogenous bioactive compounds and sensory quality of KNC meat, as well as breeding history are reviewed in this paper. The information from this review can be used for the development of commercial KNC breeds and can be applied to models for the commercialisation of native chicken breeds in developing countries.
Objectives: The current study examined neuropsychological performance among children with spina bifida (SB) to determine biological and functional correlates of distinct “profiles” of cognitive functioning. Methods: A total of 95 children with SB myelomeningocele (ages, 8–15 years) completed a neuropsychological assessment battery. Hierarchical and non-hierarchical cluster analyses were used to identify and confirm a cluster solution. Hypothesized predictors of cluster membership included lesion level, number of shunt surgeries, history of seizures, age, ethnicity, socio-economic status, and family stress. Outcomes included independence, academic success, expectations for the future, and quality of life. Results: Ward’s cluster method indicated a three-cluster solution, and was replicated with two other cluster analytic methods. The following labels were applied to the clusters: “average to low average” (n=39), “extremely low to borderline” (n=27), and “broadly average with verbal strength” (n=29). Socio-econimc status, lesion level, and seizure history significantly predicted group membership. Cluster membership significantly predicted independence, academic success, parent expectations for the future, and child reported physical quality of life. Conclusions: Findings from this study suggest qualitatively different cognitive profiles exist among children with SB, and the relevance of neuropsychological functioning for day-to-day adaptive functioning and quality of life. Clinical implications and future research are discussed. (JINS, 2016, 22, 804–815)
The idiopathic variety of chronic pancreatitis (CP) in India particularly in Kerala state was earlier called ‘tropical pancreatitis’ with peculiar features: early age of onset, severe malnutrition, diabetes and poor prognosis. A change in disease phenotype and behaviour has been observed recently.
To review the changing profile of CP in India and examine its relationship with environmental influences and socio-economic development.
Relevant studies on CP in India were reviewed along with social and economic parameters in Kerala over the past 4 decades.
There has been a definite change in the phenotype of CP in India with onset in mid twenties, better nutritional status, and a much better prognosis compared with the reports in 1970s. Genetic susceptibility due to genetic mutations particularly in SPINK1, CFTR, CTRC, and CLDN2/MORC4 genes is the most important factor and not malnutrition or dietary toxins for idiopathic CP suggesting the term ‘tropical pancreatitis’ is a misnomer. We observed a close relationship between socio-economic development and rising income in Kerala with late onset of disease, nutritional status, and better prognosis of CP.
Changing profile of CP in India and better understanding of risk factors provide evidence for gene–environmental interactions in its pathobiology.
The Moroccan goat livestock is characterized by the existence of different phenotypes distributed among diverse geographic locations. The objective of this study was to analyse the morphometric traits that differentiate the Draa breed from the other local populations raised in areas close to its cradle zone. Eight morphometric measurements were taken on 287 goats in South-eastern and Southern Morocco. The variance analysis, fitting a model that included the random effect of animal and the fixed effects of population, gender and age of animal, was used. Mahalanobis distances were calculated between identified populations and an Unweighted Pairs Group Method Analysis tree was built. Draa goats had the highest height at withers (61.5 cm), heart girth (74.4 cm), body length (64.6 cm) and live body weight (27.2 kg). These morphometric traits varied significantly among populations as well as the age and the gender of animal. The most discriminating traits between the identified populations were the body length, the heart girth, the hair length, the horn length, the ear length and the live body weight. Draa animals had the largest genetic distances from the other populations and appeared more distinguished from them. This differentiation can contribute in defining the phenotypic standard of the breed and in orienting its genetic improvement programs in the future.
Escherichia coli (E. coli) is the most widely applied model organism in current biological science. As a widespread opportunistic pathogen, E. coli can survive not only by symbiosis with human, but also outside the host as well, which necessitates the evaluation of its response to the space environment. Therefore, to keep humans safe in space, it is necessary to understand how the bacteria respond to this environment. Despite extensive investigations for a few decades, the response of E. coli to the real space environment is still controversial. To better understand the mechanisms how E. coli overcomes harsh environments such as microgravity in space and to investigate whether these factors may induce pathogenic changes in E. coli that are potentially detrimental to astronauts, we conducted detailed genomics, transcriptomic and proteomic studies on E. coli that experienced 17 days of spaceflight. By comparing two flight strains LCT-EC52 and LCT-EC59 to a control strain LCT-EC106 that was cultured under the same temperature conditions on the ground, we identified metabolism changes, polymorphism changes, differentially expressed genes and proteins in the two flight strains. The flight strains differed from the control in the utilization of more than 30 carbon sources. Two single nucleotide polymorphisms (SNPs) and one deletion were identified in the flight strains. The expression level of more than 1000 genes altered in flight strains. Genes involved in chemotaxis, lipid metabolism and cell motility express differently. Moreover, the two flight strains also differed extensively from each other in terms of metabolism, transcriptome and proteome, indicating the impact of space environment on individual cells is heterogeneous and probably genotype-dependent. This study presents the first systematic profile of E. coli genome, transcriptome and proteome after spaceflight, which helps to elucidate the mechanism that controls the adaptation of microbes to the space environment.
Improving diet and other lifestyle behaviours has considerable potential for reducing the global burden of non-communicable diseases, promoting better health across the life-course and increasing wellbeing. However, realising this potential will require the development, testing and implementation of much more effective behaviour change interventions than are used conventionally. Evidence-based, personalised (or stratified) interventions which incorporate effective behaviour change techniques (BCT) and which are delivered digitally are likely to be an important route to scalable and sustainable interventions. Progress in developing such interventions will depend on the outcomes of research on: (i) the best bases for personalisation of dietary advice; (ii) identification of BCT which are proven to enhance intervention efficacy; (iii) suitable platforms (digital-based tools) for collection of relevant participant characteristics (e.g. socioeconomic information, current diet and lifestyle and dietary preferences) linked with intelligent systems which use those characteristics to offer tailored feedback and advice in a cost-effective and acceptable manner. Future research should focus on such interventions aiming to reduce health inequalities and to improve overall public health.
Phenotypic description helps in assessing the physical attributes of species and is also an indicator of the relevance and importance attached to such attributes in their natural environments. This study was conducted to describe patterns and distribution of phenotypic diversity in Nigerian Muscovy ducks. One thousand and twenty (1 020) adult male and female Muscovy ducks reared extensively were randomly drawn from the Rain Forest, Derived Savanna and Guinea Savanna agro-ecological zones/ecotypes and were visually appraised and scored for plumage, skin, shank, feet/web, bill, bean and caruncle colours. Data on qualitative traits were analysed with descriptive statistics (percentages) while fixed effect model was used to investigate relationship between plumage and skin colours and body weight. Results revealed variations in qualitative traits; however, across ecotypes, the predominant plumage, skin, shank, feet, bill, bean and caruncle colours were mottled (45 percent), white (88 percent), yellow (50 percent), yellow (60 percent), black (58 percent), black (69 percent) and red (84 percent), respectively. Besides, significant (P < 0.05) association was observed between plumage and skin colours and body weight. The reported variations in phenotypic traits of Nigerian Muscovy ducks indicate diversity in their genome, absence of selection and the need for their selection and improvement.
The South American fruit fly Anastrepha fraterculus (Wiedemann) is an important pest in many countries. The sterile insect technique is an effective method of controlling Ceratitis capitata (Wiedemann) in Argentina and has been proposed for use against A. fraterculus. Because this technique relies on sterile mass-reared males mating with wild females, it is essential to verify that artificial rearing does not reduce male mating competitiveness. Several morphometric characters were evaluated to detect differences between a wild population and a laboratory strain that was derived from it and reared artificially since 1997. Eight morphometric traits were analysed as indicators of body size, head shape and potential mobility: Thorax Length, Head Width, Face Width, Eye Length, Wing Length, Wing Width, Third Tibia Length and Femur Length. The results were analysed using multivariate analysis of variance, linear multiple regression and logistic multiple regression. In general, laboratory flies were larger than wild ones (possibly because the larval diet was supplied ad libitum). Laboratory males had significantly larger Head Width and Eye Length and a smaller Wing Width than wild males. Laboratory females differed from wild ones only by having narrower wings. These results could be due to environmental and genetic factors, or as a consequence of genetic drift (for the latter) during colony establishment plus gradual adaptation to laboratory conditions, where flight ability is most likely less important (resources are found easily at close distances). Also, short-distance interactions among individuals are more frequent in a colony, possibly favouring increased facial trait sizes by sexual selection. Because long-term morphological changes could represent the beginning of intraspecific differentiation, they should probably be worthy of some consideration if a large mass-rearing colony is established.