Brazilian Twin Studies: A Scoping Review.

The current study was motivated by an interest in deepening understanding of Brazilian twin research, which is underrepresented internationally, in an effort to rectify this situation. Our aim was threefold: (1) to carry out a comprehensive investigation of Brazilian research on twins according to the area of knowledge; (2) to evaluate the representation of research in the field of psychology in comparison with other areas; (3) to evaluate characteristics of the research that may have contributed to its exclusion from the comprehensive meta-analysis of 50 years of twin research. A scoping review was performed according to PRISMA guidelines. Titles and abstracts were searched up to 2022 in six databases: CAPES, BDLTD, PePSIC, PubMed, Google Scholar, and SciELO, using selected keywords both in Portuguese and in English (e.g., 'twins' and 'Brazil'; 'twinning' and 'Brazil'; 'gemelaridade' [twinning], and 'gêmeos' [twins]). Three hundred and forty publications were included in the review. Approximately half (53.8‰) used the classic twin design to investigate the heritability of several traits, and the other half (46.2%) used other research designs. The scoping review showed that the number of publications doubled approximately every 10 years. Most publications were from the health area, with medicine accounting for approximately half of the studies, followed by psychology, odontology, and biology. We found that the interest in studying twins among Brazilian scientists is increasing over the years and there are reasons to be enthusiastic about the potential impact of this trend in the global scenario.

The phenotypic associations and gene-environment underpinnings of socioeconomic status and diurnal cortisol secretion in adolescence.

While converging evidence suggests that both environmental and genetic factors underlie variations in diurnal cortisol, the extent to which these sources of influence vary according to socioeconomic status (SES) has seldom been investigated, particularly in adolescence. To investigate whether a distinct genetic and environmental contribution to youth's diurnal cortisol secretion emerges according to family SES and whether the timing of these experiences matters. Participants were 592 twin pairs, who mostly came from middle-income and intact families and for whom SES was measured in childhood and adolescence. Diurnal cortisol was assessed at age 14 at awakening, 30 min later, in the afternoon and evening over four nonconsecutive days. SES-cortisol phenotypic associations were specific to the adolescence period. Specifically, higher awakening cortisol levels were detected in wealthier backgrounds, whereas higher cortisol awakening response (CAR) and diurnal changes were present at both ends of the SES continuum. Moreover, smaller genetic contributions emerged for awakening cortisol in youth from poorer compared to wealthier backgrounds. The results suggest that the relative contribution of inherited factors to awakening cortisol secretion may be enhanced or suppressed depending on the socio-family context, which may help to decipher the mechanisms underlying later adjustment.

Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.

Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal intelligence. It is caused by variants in FAM111A (NM_001942519.1). In this review, we reported the first Chinese patients, a pair of monozygotic twins, with genetically confirmed KCS type 2 with over 20 years follow-up. We summarized the clinical features of 14 previously reported and genetically confirmed KCS type 2 patients; our twin patients exhibited a unique spinal manifestation which could be an important age-dependent feature of KCS type 2. In this review, over 60% KCS type 2 patients had dental problem and over 80% suffered from refractive errors or structural eye abnormalities. Therefore, early dental, ophthalmological, and orthopedic assessments are warranted for KCS type 2 patients. Micro-orchidism, previously reported in KCS type 2 patients, was also detected in our patients. The possibility of subfertility should be considered in male KCS type 2 patients. A multidisciplinary management approach for this rare syndrome is recommended.

Patterns of heritability across the human diphyodont dental complex: Crown morphology of Australian twins and families.

OBJECTIVES: This study generates a series of narrow-sense heritability estimates for crown morphology of the deciduous and permanent dentition with two overarching aims. The first is to test the hypothesis that deciduous teeth provide a more faithful reflection of genetic information than their permanent successors. The second is to use quantitative genetic methods to evaluate assumptions underlying common data collection and analysis practices in biodistance research. MATERIALS AND METHODS: Dental morphology data were collected from longitudinal dental casts representing Australian twins and families using Arizona State Dental Anthropology System standards. Polygenic models and estimates of narrow-sense heritability were generated using SOLAR v.8.1.1. Each model considered age, sex, and age/sex interaction as covariates. RESULTS: Heritability estimates significantly differed from zero for the majority of morphological crown characters. Most estimates fell within the 0.4-0.8 range typically observed for crown morphology. Mean heritability was stable across the dental complex, but for paired homologues, permanent traits often yielded higher estimates than their deciduous counterparts. Results indicate directional asymmetry in environmental influence for crown morphology and inform biodistance "best practices" related to data collection and treatment. CONCLUSIONS: Overall, results for this sample support the use of crown morphology as a proxy for genetic variation in evolutionary research. This includes the deciduous dentition, which justifies the expansion of efforts to incorporate subadults into reconstructions of past microevolutionary processes. Results do not indicate that deciduous phenotypes more closely approximate underlying genotype, at least for deciduous/permanent homologues.

Nurture trumps nature in a longitudinal survey of salivary bacterial communities in twins from early adolescence to early adulthood.

Variation in the composition of the human oral microbiome in health and disease has been observed. We have characterized inter- and intra-individual variation of microbial communities of 107 individuals in one of the largest cohorts to date (264 saliva samples), using culture-independent 16S rRNA pyrosequencing. We examined the salivary microbiome in up to three time-points during 10 yr spanning adolescence, and determined the influence of human genotype, gender, age, and weight class. Participants, including 27 monozygotic and 18 dizygotic twin pairs, were sampled mainly at ages 12-13, 17-18, and 22-24, with a few sampled as early as 8 yr of age. In contrast to gut or skin microbiomes, there is a core genus-level salivary microbiome. Individuals are more similar to themselves and their co-twins in the 12-17 and in the 17-22 cohorts than to the whole sample population, but not over the 10 yr from 12 to 22; and monozygotic twin pairs are statistically not more similar than dizygotic twin pairs. The data are most consistent with shared environment serving as the main determinant of microbial populations. Twins resemble each other more closely than the whole population at all time-points, but become less similar to each other when they age and no longer cohabit. Several organisms have age-specific abundance profiles, including members of the genera Veillonella, Actinomyces, and Streptococcus. There is no clear effect of weight class and gender. The results of this work will provide a basis to further study oral microbes and human health.

Stolen twin: fascination and curiosity/twin research reports: evolution of sleep length; dental treatment of craniopagus twins; cryopreserved double embryo transfer; gender options in multiple pregnancy/current events: appendectomy in one twin; autistic twin marathon runners; 3D facial recognition; twin biathletes.

The story of her allegedly stolen twin brother in Armenia is recounted by a 'singleton twin' living in the United States. The behavioral consequences and societal implications of this loss are considered. This case is followed by twin research reports on the evolution of sleep length, dental treatment of craniopagus conjoined twins, cryopreserved double embryo transfer (DET), and gender options in multiple pregnancy. Current events include the diagnosis of appendectomy in one identical twin, the accomplishments of autistic twin marathon runners, the power of three-dimensional (3D) facial recognition, and the goals of twin biathletes heading to the 2014 Sochi Olympics in Russia.

Genetic and environmental influences on testosterone in adolescents: evidence for sex differences.

The current study investigated genetic and environmental influences on salivary testosterone during adolescence, using data from 49 pairs of monozygotic twins and 68 pairs of dizygotic twins, ages 14-19 years (M = 16.0 years). Analyses tested for sex differences in genetic and environmental influences on testosterone and its relation to pubertal development. Among adolescent males, individual differences in testosterone were heritable (55%) and significantly associated with self-reported pubertal status (controlling for age) via common genetic influences. In contrast, there was minimal heritable variation in testosterone for females, and testosterone in females was not significantly associated with pubertal status after controlling for age. Rather, environmental influences shared by twins raised together accounted for nearly all of the familial similarity in female testosterone. This study adds to a small but growing body of research that investigates genetic influences on individual differences in behaviorally relevant hormones.

An overview of multidisciplinary research resources at the Osaka University Center for Twin Research.

Osaka University Center for Twin Research is currently organizing a government-funded, multidisciplinary research project using a large registry of aged twins living in Japan. The purpose of the project is to collect various information as well as biological resources from registered twins, and to establish a biobank and databases for preserving and managing these data and resources. The Center is collecting data from twin pairs, both of whom have agreed to participate in a one-day comprehensive medical examination. The following data are being collected: physical data (e.g., height, body mass, blood pressure, theoretical visceral fat, pulse wave velocity, and bone density), data regarding epidemiology (e.g., medical history, lifestyle, quality of life, mood status, cognitive function, and nutrition), electrocardiogram, ultrasonography (carotid artery and thyroid), dentistry, plastic surgery, positron emission tomography, magnetoencephalogram, and magnetic resonance imaging of brain. These data are then aggregated and systematically stored in specific databases. In addition, peripheral blood is obtained from the participants, and then genomic DNA is purified and sera are stored. A wide variety of studies are ongoing, and more are in the planning stage.

Three-dimensional analysis of facial shape and symmetry in twins using laser surface scanning.

OBJECTIVES: Three-dimensional analysis of facial shape and symmetry in twins. SETTING AND SAMPLE POPULATION: Faces of 37 twin pairs [19 monozygotic (MZ) and 18 dizygotic (DZ)] were laser scanned at the age of 15 during a follow-up of the Avon Longitudinal Study of Parents and Children (ALSPAC), South West of England. MATERIAL AND METHODS: Facial shape was analysed using two methods: 1) Procrustes analysis of landmark configurations (63 x, y and z coordinates of 21 facial landmarks) and 2) three-dimensional comparisons of facial surfaces within each twin pair. Monozygotic and DZ twins were compared using ellipsoids representing 95% of the variation in landmark configurations and surface-based average faces. Facial symmetry was analysed by superimposing the original and mirror facial images. RESULTS: Both analyses showed greater similarity of facial shape in MZ twins, with lower third being the least similar. Procrustes analysis did not reveal any significant difference in facial landmark configurations of MZ and DZ twins. The average faces of MZ and DZ males were coincident in the forehead, supraorbital and infraorbital ridges, the bridge of the nose and lower lip. In MZ and DZ females, the eyes, supraorbital and infraorbital ridges, philtrum and lower part of the cheeks were coincident. Zygosity did not seem to influence the amount of facial symmetry. Lower facial third was the most asymmetrical. CONCLUSION: Three-dimensional analyses revealed differences in facial shapes of MZ and DZ twins. The relative contribution of genetic and environmental factors is different for the upper, middle and lower facial thirds.

The genetic architecture of anterior tooth morphology in a longitudinal sample of Australian twins and families.

OBJECTIVE: This study presents a quantitative genetic analysis of human anterior dental morphology in a longitudinal sample of known genealogy. The primary aim of this work is to generate a suite of genetic correlations within and between deciduous and permanent characters to access patterns of integration across the diphyodont dental complex. DESIGN: Data were recorded from casted tooth crowns representing participants of a long-term Australian twin and family study (deciduous n = 290, permanent n = 339). Morphological trait expression was observed and scored following Arizona State University Dental Anthropology System standards. Bivariate genetic correlations were estimated using maximum likelihood variance decomposition models in SOLAR v.8.1.1. RESULTS: Genetic correlation estimates indicate high levels of integration between antimeres but low to moderate levels among traits within a tooth row. Only 9% of deciduous model comparisons were significant, while pleiotropy was indicated for one third of permanent trait pairs. Canine characters stood out as strongly integrated, especially in the deciduous dentition. For homologous characters across dentitions (e.g., deciduous i1 shoveling and permanent I1 shoveling), ∼70% of model comparisons yielded significant genetic correlations. CONCLUSIONS: Patterns of genetic correlation suggest a morphological canine module that spans the primary and secondary dentition. Results also point to the existence of a genetic mechanism conserving morphology across the diphyodont dental complex, such that paired deciduous and permanent traits are more strongly integrated than characters within individual tooth rows/teeth.

Salivary cortisol and prefrontal cortical thickness in middle-aged men: A twin study.

Although glucocorticoid receptors are highly expressed in the prefrontal cortex, the hippocampus remains the predominant focus in the literature examining relationships between cortisol and brain. We examined phenotypic and genetic associations of cortisol levels with the thickness of prefrontal and anterior cingulate cortex regions, and with hippocampal volume in a sample of 388 middle-aged male twins who were 51-59 years old. Small but significant negative phenotypic associations were found between cortisol levels and the thickness of left dorsolateral (superior frontal gyrus, left rostral middle frontal gyrus) and ventrolateral (pars opercularis, pars triangularis, pars orbitalis) prefrontal regions, and right dorsolateral (superior frontal gyrus) and medial orbital frontal cortex. Most of the associations remained significant after adjusting for general cognitive ability, cardiovascular risk factors, and depression. Bivariate genetic analyses suggested that some of the associations were primarily accounted for by shared genetic influences; that is, some of the genes that tend to result in increased cortisol levels also tend to result in reduced prefrontal cortical thickness. Aging has been associated with reduced efficiency of hypothalamic-pituitary-adrenal function, frontal lobe shrinkage, and increases in health problems, but our present data do not allow us to determine the direction of effects. Moreover, the degree or the direction of the observed associations and the extent of their shared genetic underpinnings may well change as these individuals age. Longitudinal assessments are underway to elucidate the direction of the associations and the genetic underpinnings of longitudinal phenotypes for changes in cortisol and brain morphology.

Do genetic factors explain the association between poor oral health and cardiovascular disease? A prospective study among Swedish twins.

Epidemiologic studies suggest positive associations between poor oral health and cardiovascular disease. The authors undertook a prospective study among 15,273 Swedish twins (1963-2000) to examine whether genetic factors underlying the 2 diseases could explain previous associations. They estimated hazard ratios and 95% confidence intervals controlling for individual factors and stratifying on twin pairs to control for familial effects. Quantitative genetic analyses estimated genetic correlations between oral diseases and cardiovascular disease outcomes. Tooth loss (hazard ratio (HR) = 1.2, 95% confidence interval (CI): 1.1, 1.4) and periodontal disease (HR = 1.3, 95% CI: 1.0, 1.4) were associated with small excess risks of cardiovascular disease; periodontal disease was also associated with coronary heart disease (HR = 1.4, 95% CI: 1.1, 1.6). Adjustment for genetic factors in co-twin analyses did not appreciably change estimates. In contrast, tooth loss was more strongly associated with coronary heart disease in twin models (HR = 2.1, 95% CI: 1.2, 3.8) compared with adjusting for individual factors alone (HR = 1.3, 95% CI: 1.1, 1.4). There was evidence of shared genetic factors between cardiovascular disease and tooth loss (r(G) = 0.18) and periodontal disease (r(G) = 0.29). Oral disease was associated with excess cardiovascular disease risk, independent of genetic factors. There appear to be common pathogenetic mechanisms between poor oral health and cardiovascular disease.

Are post-traumatic stress disorder symptoms and temporomandibular pain associated? Findings from a community-based twin registry.

AIMS: To determine whether symptoms of post-traumatic stress disorder (PTSD) are related to the pain of temporomandibular disorders (TMD) in a community-based sample of female twin pairs, and if so, to ascertain whether the association is due to the presence of chronic widespread pain (CWP) and familial/genetic factors. METHODS: Data were obtained from 630 monozygotic and 239 dizygotic female twin pairs participating in the University of Washington Twin Registry. PTSD symptoms were assessed with the Impact of Events Scale (IES), with scores partitioned into terciles. TMD pain was assessed with a question about persistent or recurrent pain in the face, jaw, temple; in front of the ear; or in the ear during the past 3 months. CWP was defined as pain located in 3 body regions during the past 3 months. Random-effects regression models, adjusted for demographic features, depression, CWP, and familial/genetic factors, were used to examine the relationship between the IES and TMD pain. RESULTS: IES scores were significantly associated with TMD pain (P < .01). Twins in the highest IES tercile were almost 3 times more likely than those in the lowest tercile to report TMD pain, even after controlling for demographic factors, depression, and CWP. After adjustment for familial and genetic factors, the association of IES scores with TMD pain remained significant in dizygotic twins (Ptrend = .03) but was not significant in monozygotic twins (Ptrend = .30). CONCLUSION: PTSD symptoms are strongly linked to TMD pain. This association could be partially explained by genetic vulnerability to both conditions but is not related to the presence of CWP. Future research is needed to understand the temporal association of PTSD and TMD pain and the genetic and physiological underpinnings of this relationship.

Traumatic dental injuries in twins: is there a genetic risk for dental injuries?

Traumatic dental injuries are a major cause of morbidity among children. Investigation of risk factors of dental trauma is important to take preventive measures in patients at high risk for tooth accidents. The aim of this work was to conduct a pilot study in twins, assessing concordance of suffered traumatic dental and facial injuries. Comparison of concordances between monozygotic and dizygotic twin pairs was performed in order to investigate possible genetically determined accident-proneness. Standardized interviews were conducted focusing on the frequency of orofacial accidents and their circumstances. In addition, the front teeth of all participating twins were clinically examined. A total of 104 twins (52 twin pairs) were surveyed: 31 of the 52 twin pairs were DZ and 21 pairs were MZ. 36 (34.6%) of the 104 interviewees had already suffered from a tooth injury, whereas 53 (51%) of the participants had experienced a facial injury. Investigation of concordances of suffered traumatic dental injuries revealed that 66.7% of the MZ twin pairs and 58.1% of the DZ pairs were concordant. With respect to facial traumata, 52.4% of the MZ pairs compared to 58.1% of the DZ pairs were concordant. Differences between zygosity were not statistically significant (P >/= 0.05). With the present pilot study, no statistical evidence of genetic risk for dental and facial injuries could be displayed. On the contrary, environmental factors seem to dominate in determining an individual's risk for orofacial traumata.

Host Genetic Control of the Oral Microbiome in Health and Disease.

Host-associated microbial communities are influenced by both host genetics and environmental factors. However, factors controlling the human oral microbiome and their impact on disease remain to be investigated. To determine the combined and relative effects of host genotype and environment on oral microbiome composition and caries phenotypes, we profiled the supragingival plaque microbiome of 485 dizygotic and monozygotic twins aged 5-11. Oral microbiome similarity always increased with shared host genotype, regardless of caries state. Additionally, although most of the variation in the oral microbiome was determined by environmental factors, highly heritable oral taxa were identified. The most heritable oral bacteria were not associated with caries state, did not tend to co-occur with other taxa, and decreased in abundance with age and sugar consumption frequency. Thus, while the human oral microbiome composition is influenced by host genetic background, potentially cariogenic taxa are likely not controlled by genetic factors.

Evidence of a unique and common genetic etiology between the CAR and the remaining part of the diurnal cycle: A study of 14 year-old twins.

INTRODUCTION: By and large, studies have reported moderate contributions of genetic factors to cortisol secreted in the early morning and even smaller estimates later in the day. In contrast, the cortisol awakening response (CAR) has shown much stronger heritability estimates, which prompted the hypothesis that the etiology of cortisol secretion may vary according to the time of day. A direct test of this possibility has, however, not yet been performed. OBJECTIVE: To describe the specific and common etiology of the CAR, awakening level and cortisol change from morning to evening in an age-homogenous sample of twin adolescents. METHODS: A total of 592 participants of the Québec Newborn Twin Study, a population-based 1995-1998 cohort of families with twins in Canada, have collected saliva at awakening, 30 min later, at the end of afternoon and in the evening over four collection days. RESULTS: Multivariate Cholesky models showed both specific and common sources of variance between the CAR, awakening and cortisol diurnal change. The CAR had the strongest heritability estimates, which, for the most part, did not overlap with the other indicators. Conversely, similar magnitudes of genetic and environmental contributions were detected at awakening and for diurnal change, which partially overlapped. CONCLUSION: Our study unraveled differences between the latent etiologies of the CAR and the rest of the diurnal cycle, which may contribute to identify regulatory genes and environments and detangle how these indicators each relate to physical and mental health.

Twin half-sibs: a research design for genetic epidemiology of common dental disorders.

Dental caries and the chronic type of periodontal disease are classic examples of common familial diseases that are complex and multifactorial in etiology. Due to previous methodological limitations, there is no information at present on the genetic and shared environmental risks within families that account for familial aggregation of these diseases. Such information, however, is needed in the long run to help specify modifiable family environments that affect the frequency and/or severity of the disease, and thereby to aid in the planning of prevention strategies to be targeted at the family level. Recently, an innovative genetic model has been described to test the genetic and environmental basis of chronic familial diseases in identical (monozygotic) twins, their spouses, and their offspring, who are genetically half-sibs. In this paper, the method is detailed and shown to be appropriate not only for partitioning shared genetic and environmental risks within families, but also for delineating maternal effects and assortative mating as two non-genetic mechanisms that may ultimately be found to affect the incidence of disease.

A twin study of genetic variation in proportional radiographic alveolar bone height.

The purpose of this study was to estimate the genetic variance for alveolar bone height by means of the classic twin method and the study of monozygous twins reared apart. Panoramic radiographs were obtained from 120 pairs of adult twins (mean age = 40.4 years, S.D. = 10.4 years), for comparison of 62 pairs of monozygous twins reared together (MZT), 25 pairs of like-sexed dizygous twins reared together (DZT), and 33 pairs of monozygous twins reared apart (MZA). Mesial and distal bone heights were determined as a proportion of tooth length. A full-mouth bone score was computed for each twin by averaging these proportions from all measurable teeth. Between-pair (B) and within-pair (W) variances were computed for each twin group. The population variances (B + W) of the MZT and DZT twin groups were similar, which validated a basic assumption of the twin model. Intraclass correlations and heritability estimates were also computed for the reared-together and reared-apart twin groups. Boot-strap sampling was used to provide estimates and confidence limits for these values. The intraclass correlations for the twin groups were: MZT = 0.70, DZT = 0.52, and MZA = 0.55. The results of this study suggest that there is significant genetic variance in the population for proportional alveolar bone height.

Genetic contribution to dental arch size variation in Australian twins.

The aim of this study was to quantify the relative contributions of genetic and environmental factors to variations in dental arch breadth, length and palatal height in a sample of Australian twins, and to estimate heritabilities using modern model-fitting methods. Dental casts of 20 male and 24 female monozygous (MZ) twin pairs, 17 male and 8 female dizygous (DZ) twin pairs, and 9 opposite-sexed DZ twin pairs were selected from the collection of records of twins housed at the Adelaide Dental School. The mean ages of subjects were 15.8 +/- 3.5 years (MZ) and 17.0 +/- 4.7 years (DZ). Dental casts were scanned using a contact-type 3D scanner, PICZA interfaced to a personal computer running 3D-Rugle3 software. Data were subjected to univariate genetic analysis with the structural equation modelling package, Mx, using the normal assumptions of the twin model. A model incorporating additive genetic (A) and unique environmental (E) variation was found to be the most parsimonious for dental arch breadth and length, and palatal height. Estimates of heritability for dental arch breadth ranged from 0.49 to 0.92, those for arch length from 0.86 to 0.94, and those for palatal height were 0.80 and 0.81, respectively. These results indicate a high genetic contribution to the variation in dental arch dimensions in mainly teenage twins.