Hair diameter and curvature are two characteristics of human scalp hair used in forensic contexts. While previous data show that subjective categorization of hair curvature is highly heritable, the heritability of objectively measured curvature and diameter, and variability of hair characteristics within each individual have not yet been studied. The present study measured hair diameter and curvature using an optical fiber diameter analyzer in a sample of 2,332 twins and siblings. Heritability was estimated using maximum likelihood structural equation modeling. Results show sex differences in the magnitude of genetic influence for mean diameter and curvature, with the vast majority of the variance accounted for by genetic effects in males (diameter = 86%, curvature = 53%) and females (diameter = 77%, curvature = 61%). The consistency of diameter (variance within an individual) was also highly heritable, but did not show sex limitation, with 68% of the variance accounted for by genetic factors. Moderate phenotypic correlations were seen between diameter and consistency (r = 0.3) but there was little correlation between diameter and curvature (r = -0.13). A bivariate Cholesky analysis was used to estimate the genetic and environmental correlations between hair diameter and consistency, yielding genetic correlations of r gF = 0.27 for females and r gM = 0.25 for males.

A fear of interlocking twins is one factor that has led to a high Cesarean section (C/S) rate in breech (A)/vertex (B) (Bra/Vtxb) twins. We sought to estimate the frequency of occurrence of twin entanglement, and of interlocking Bra/Vtxb twins in vaginal deliveries. 541 twins and 48 195 deliveries were retrospectively studied for the period 1987–1995. The incidence of Bra/Vtxb deliveries was noted, and the number of deliveries marked by interlocking and collision of fetuses. The mode of delivery, reason for C/S, and sources of perinatal mortality were noted. Only 43 deliveries were Bra/Vtxb (7.9% of all twins) and of these only 14 (32.6%) were delivered vaginally. One case of interlocking (2.3% of all Bra/Vtxb pairs) and five cases of collision of twins (ie competition for entry into the pelvic inlet with obstruction) were noted. All cases mentioned were delivered by C/S. No perinatal mortality resulted from these cases. In recent years the trend has been for greater use of C/S and ultrasound in managing twin deliveries. In this study 67.4% of Bra/Vtxb twins were delivered by C/S. Although there are fewer vaginal deliveries of these twins and the rate for interlocking (2.3%; 95% CI: 0.06–12.3%) for the whole group has remained about the same, we found the rate in those twins allowed vaginal delivery was 6.7% (95% CI: 0.2–31.9%). The presentation at greatest risk for entanglement was found to be Bra/Vtxb.

Introduction: Non-random selection into a study population due to differences between consenters and non-consenters may introduce participation bias. Past investigations of factors predicting consent to collection of medical health records for research imply that age, sex, health status, and education are of importance for participation, but disagree on the direction of effects. Very little is known about influences on consent from adolescents.

Methods: Two cohorts of Swedish 15-year-old twins (total n = 4,611) previously invited to the Child and Adolescent Twin Study in Sweden (CATSS) responded to a questionnaire with information on sex, individual's health, height, weight, and parental factors. The questionnaire included a question for consent to collection of medical health records. Predictors for consent were analyzed using logistic regression. Additionally, regional differences in the collection of health records of consenters were evaluated.

Results: Males were significantly less likely to consent compared to females (OR 0.74, 95% CI 0.64–0.85). The twin siblings’ decision to consent was strongly associated with consent (OR 10.9, 95% CI 8.76–13.5), and individuals whose parents had responded to the original CATSS study were more likely to consent to record collection at age 15 (OR 2.2, 95% CI 1.81–2.75). Results of the subsequent collection of consenters’ medical health records varied between geographical regions of Sweden.

Conclusion: We identified several predictors for adolescents’ consent to collection of their medical health records. Further selection was introduced through the subsequent record collection. Whether this will induce participation bias in future studies depends on the research questions’ relationship to the identified predictors.

The Children of the Twins Early Development Study (CoTEDS) is a new prospective children-of-twins study in the UK, designed to investigate intergenerational associations across child developmental stages. CoTEDS will enable research on genetic and environmental factors that underpin parent–child associations, with a focus on mental health and cognitive-related traits. Through CoTEDS, we will have a new lens to examine the roles that parents play in influencing child development, as well as the genetic and environmental factors that shape parenting behavior and experiences. Recruitment is ongoing from the sample of approximately 20,000 contactable adult twins who have been enrolled in the Twins Early Development Study (TEDS) since infancy. TEDS twins are invited to register all offspring to CoTEDS at birth, with 554 children registered as of May 2019. By recruiting the second generation of TEDS participants, CoTEDS will include information on adult twins and their offspring from infancy. Parent questionnaire-based data collection is now underway for 1- and 2-year-old CoTEDS infants, with further waves of data collection planned. Current data collection includes the following primary constructs: child mental health, temperament, language and cognitive development; parent mental health and social relationships; parenting behaviors and feelings; and other socioecological factors. Measurement tools have been selected with reference to existing genetically informative cohort studies to ensure overlap in phenotypes measured at corresponding stages of development. This built-in study overlap is intended to enable replication and triangulation of future analyses across samples and research designs. Here, we summarize study protocols and measurement procedures and describe future plans.

We assess the prognostic values of zygosity and chorionicity in triplet pregnancies (TP) with the assistance of microsatellites analysis. 53 consecutive TP whose prenatal care and delivery occurred in our maternity hospital were included in this prospective study. Zygosity of all sets of triplets (alive or stillbirth, after 22 weeks of gestation) was determined by PCR-amplified microsatellites markers analysis. Chorionicity was determined by placental analysis in our fetopathology referral department and validated by molecular analysis of zygosity. Placental conformations, obstetrical and neonatal outcomes of TP were studied according to their zygosity and chorionicity. Monozygotic and to a greater extent, dizygotic TP were associated with an increase in placental ischemic injuries, velamentous cord insertions, twin-twin transfusion syndromes, fetal anomalies, and perinatal mortality when compared with the trizygotic TP (p <0.05). Monochorionic and more significantly, dichorionic TP presented with the same increases as trichorionic TP (p <0.05). Thus chorionicity easily determined by ultrasound evaluation during the first trimester of the pregnancy must remain the main prognosis criterion in TP. Taking into account the rare indications of prenatal diagnosis of zygosity, it became apparent that chorionicity has a greater impact than zygosity when distinguishing high-risk groups of TP.

Studying the causes and correlates of natural variation in gene expression in healthy populations assumes that individual differences in gene expression can be reliably and stably assessed across time. However, this is yet to be established. We examined 4-hour test–retest reliability and 10 month test–retest stability of individual differences in gene expression in ten 12-year-old children. Blood was collected on four occasions: 10 a.m. and 2 p.m. on Day 1 and 10 months later at 10 a.m. and 2 p.m. Total RNA was hybridized to Affymetrix-U133 plus 2.0 arrays. For each probeset, the correlation across individuals between 10 a.m. and 2 p.m. on Day 1 estimates test–retest reliability. We identified 3,414 variable and abundantly expressed probesets whose 4-hour test–retest reliability exceeded .70, a conventionally accepted level of reliability, which we had 80% power to detect. Of the 3,414 reliable probesets, 1,752 were also significantly reliable 10 months later. We assessed the long-term stability of individual differences in gene expression by correlating the average expression level for each probe-set across the two 4-hour assessments on Day 1 with the average level of each probe-set across the two 4-hour assessments 10 months later. 1,291 (73.7%) of the 1,752 probe-sets that reliably detected individual differences across 4 hours on two occasions, 10 months apart, also stably detected individual differences across 10 months. Heritability, as estimated from the MZ twin intraclass correlations, is twice as high for the 1,752 reliable probesets versus all present probesets on the array (0.68 vs 0.34), and is even higher (0.76) for the 1,291 reliable probesets that are also stable across 10 months. The 1,291 probesets that reliably detect individual differences from a single peripheral blood collection and stably detect individual differences over 10 months are promising targets for research on the causes (e.g., eQTLs) and correlates (e.g., psychopathology) of individual differences in gene expression.

Our aim was to evaluate the ability of prenatal ultrasound scans to predict fetal growth discordance, and to examine the correlation between fetal weight estimated by ultrasound with actual birthweight in twin pregnancies. The study consisted of 221 twin pregnancies with ultrasound fetal weight estimates based on Hadlock's 4 parameter formula. Prediction of intertwin birthweight discordance was examined at 4 different intervals between ultrasound examination and delivery (0–7 days, n = 96; 8–14 days, n = 66; 15–21 days, n = 58; 22–28 days, n = 59 pregnancies), with a total of 279 ultrasound examinations. Birthweight discordance was considered as a difference of 20% or greater. The correlation between fetal weight estimated between 0 and 7 days and actual birthweight was calculated by intraclass correlation coefficient. The predictive values for intertwin discordance of 20% or more in the 0 to 7 days group were: sensitivity = 93.6%, specificity = 79.4%, positive predictive value = 89.2%, negative predictive value = 87.1% and accuracy = 88.6%. In the groups with scans carried out between 8 and 14 days, 15 and 21 days, and 22 and 28 days, the sensitivity and accuracy values were 95.8% and 84.9%, 95.6% and 84.5%, 90.9% and 84.8%, respectively. Fetal growth discordance in twins can be accurately predicted by ultrasound examination performed up to 28 days before birth. There is a good correlation between fetal weight estimated between 0 and 7 days and actual birthweight.

We describe subject recruitment and research results from the Osaka University Aged Twin Registry (OUATR). The research focus of OUATR is the genetic and environmental contributions to physical-cognitive-mental aging which we examined in Japanese twins in later adulthood. Within this large-scale registry (12,000 pairs) of oriental twins born between 1900 and 1935, approximately 10% of participants are MZ twins reared apart from early childhood. Two hundred and fifty pairs have had comprehensive medical examinations, including various blood chemical panels, lymphocyte subtests, WAIS (Wechsler Adult Intelligence Scale), and urine analysis. The future foci of this study are primarily on longevity, decline of cognitive functions with aging, bio-physiological functions, lifestyle and behavior genetics, and psycho-spiritual functions.

Both zygosity and chorionicity provide important information in twin research. The East Flanders Prospective Twin Survey (EFPTS) determines zygosity and chorionicity at birth and therefore provides a gold standard for the testing of diagnostic parameters that can be used to determine chorionicity. The aim of the present study was to investigate whether birthweight discordancy can be used as an indicator of chorionicity. The study sample consisted of 4,060 live-born twin pairs from the EFPTS. We studied MZ twins, using univariate and multivariate logistic regression analyses to calculate odds ratios (OR) and 95% confidence intervals (CI) of being MC in relation to discordancy level. Diagnostic parameters, including sensitivity and specificity, were calculated. A two-fold cross-validation was carried out and a bootstrap distribution with 10,000 samples was created to estimate the standard deviations. For discordancy levels of below 10%, 10–15%, 15–20%, 20–25% and above 25%, the ORs (95% CI) were 1.16 (0.91–1.47), 1.38 (1.05–1.80), 2.13 (1.51–3.01), 2.73 (1.73–4.29) and 2.81 (2.81–4.35) respectively. There were no gender differences. Sensitivity was 42.2% (SD 5.6%), specificity was 72.8% (SD 6.3%), positive predictive value was 72.8% (1.5%) and the negative predictive value was 39.2% (0.7%). In conclusion, although a higher discordancy level resulted in higher ORs of being an MC twin, birthweight discordancy level can only be used to some weak extent as a proxy for chorionicity, highlighting the need to assess and record chorionicity data in obstetrical units.

Anxiety symptoms co-occur with cardiovascular health problems, with increasing evidence suggesting the role of autonomic dysfunction. Yet, there is limited behavior genetic research on underlying mechanisms. In this twin study, we investigated the phenotypic, genetic and environmental associations between a latent anxiety factor and three cardiovascular autonomic function factors: interbeat interval (IBI, time between heart beats), heart rate variability (HRV, overall fluctuation of heart-beat intervals) and baroreflex sensitivity (BRS, efficiency in regulating blood pressure [BP]). Multivariate twin models were fit using data of female twins (N = 250) of the Twin Interdisciplinary Neuroticism Study (TWINS). A significant negative association was identified between latent anxiety and BRS factors (r = −.24, 95% CI [−.40, −.07]). Findings suggest that this relationship was mostly explained by correlated shared environmental influences, and there was no evidence for pleiotropic genetic or unique environmental effects. We also identified negative relationships between anxiety symptoms and HRV (r = −.17, 95% CI [−.34, .00]) and IBI factors (r = −.13, 95% CI [−.29, .04]), though these associations did not reach statistical significance. Findings implicate that higher anxiety scores are associated with decreased efficiency in short-term BP regulation, providing support for autonomic dysfunction with anxiety symptomatology. The baroreflex system may be a key mechanism underlying the anxiety–cardiovascular health relationship.

Although the birth of twins has always attracted attention, there are no known genetic or environmental factors that can determine the birth of monozygotic (MZ) twins. And even for dizygotic (DZ) twins, genetic influences are not completely understood. A previous study from our group has shown that the C allele of polymorphism rs1042522 in the TP53 gene was more frequent in the mothers of twins than in the mothers of singletons in a small village in South Brazil. In order to clarify whether this was an isolated factor, we performed a population-based, observational case-control study. Samples were selected from a state-funded program of paternity investigation. Samples were considered cases when two of the children had the same date of birth, whereas controls were those samples in which at least two children were born in different dates. The first subsequent sample fulfilling control criteria was included after each case. From 2007 to 2013, 32,661 records were searched and 283 (0.9%) twins were found (119 MZ and 164 DZ). Genotypic and allele frequencies were not different between mothers of twins or mothers of singletons. However, mothers of MZ twins showed a higher frequency of GG genotype and lower frequency of the C allele when compared to mothers of DZ twins. Also, the proportion of MZ twins (42%) was higher than usually reported (30%). Finally, the proportion of twins found in this study seems to be more realistic, as this sample was allegedly not from users of assisted reproduction techniques.

Probably the most robust sex difference in cognitive abilities is that on average males outperform females in tests of mental rotation. Using twin data we tested whether there are sex differences in the magnitude of genetic and environmental effects on mental rotation test performance and whether the same or different genetic effects operate in females and males. The present study replicated the well-known male advantage in mental rotation ability. The relative proportion of variance explained by genetic effects did not differ between females and males, but interestingly, absolute additive genetic and unique environmental variances were greater in males reflecting significantly greater phenotypic variance in mental rotation test performance in males. Over half of the variance in mental rotation test performance was explained by genetic effects, which suggest that mental rotation ability is a good phenotype for studies finding genes underlying spatial abilities. Results indicate that females and males could be combined for such genetic studies, because the same genetic effects affected mental rotation test performance in females and males.

There are no data on whether parents of twins will disclose mode of conception to researchers or to their children, who will be informants in adulthood. We sent 1600 questionnaires about this via the Victorian branch of the Australian Multiple Birth Association, to be returned anonymously. Parents were asked how their twins were conceived and whether those who used assisted conception would disclose this to researchers studying assisted conception, twin pregnancy or twin children, or to their children. Comments were invited. Altogether 975 (61%) questionnaires were returned and 389 (40%) indicated use of some form of assisted conception: 75 (19%) ovarian stimulation alone, 165 (42%) In Vitro Fertilisation, 132 (34%) Intracytoplasmic Sperm Injection, and 17 (4%) Gamete Intrafallopian Transfer, with 20 reporting use of donor eggs and thirteen donor sperm. Of those using assisted conception, the proportion reporting that they would not, or may not, tell researchers was 5% for assisted conception studies, 6% for twin pregnancy studies, and 7% for studies of twin children, while 7% reported that they would not, or may not, tell their children. From the comments (from 374/975; 38%) it was clear that questions about mode of conception can be offensive to some parents of twins, unless there is a need to know. Further, the question ‘are your twins natural?’ should be avoided. We believe the question ‘Did you need medical help to conceive your twins’, followed up with specific questions, is more acceptable.

Elevated pulse pressure is associated with cardiovascular disorders and mortality in various populations. The genetic influence on pulse pressure has been confirmed by heritability estimates using related individuals. Recently, efforts have been made in mapping genes that are linked to the phenotype. We report results on our heritability and linkage study conducted on the Chinese population in mainland China where cardiovascular and cerebrovascular diseases are becoming the leading cause of death. A total of 630 pairs of middle-aged Chinese twins were collected for heritability analysis, from which 63 dizygotic twin pairs were randomly selected for genome-wide linkage analysis using Affymetrix 6.0 SNP array. Regression analysis reconfirmed the significant effects of age, sex, and BMI on pulse pressure. Comparison of twin models suggested the parsimonious AE model as the best model with a heritability estimate of 0.45. Genome-wide non-parametric linkage analysis identified three significant linkage peaks on chromosome 11 (lod score 4.06 at 30.5 cM), chromosome 12 (lod score 3.97 at 100.7 cM), and chromosome 18 (lod score 4.01 at 70.7 cM) with the last two peaks closely overlapping with linkage peaks reported by two American studies. In addition, multiple regions with suggestive linkage were identified with many of them overlapping with published linkage regions. Our results provide both epidemiological and molecular genetic evidence for the genetic dissection of pulse pressure in the Chinese population, which could help in fine mapping and in characterizing genes that are involved in the regulation of pulse pressure.

Since 1876, statistical data on twin and multiple (TAM) births and deliveries have been registered in Hungary. Although there were some years during this 138-year period when twin births and deliveries were left out of the statistics, the trends can be followed, except for the period of World War II. The trends of twinning over the past four decades are summarized in this article, relying on official statistical data since 1970. Notably, the TAM birth rate rose following the Act CLIV of 1997 on Health. The Act provided state support for assisted reproductive treatments (ART), which spectacularly increased the ratio of twins — and especially of triplets — among live births. The trend has turned around since 2009–2010, and a decreasing era of TAM births seems to have begun. This article discusses some of the main and most interesting findings connected with TAM births, including twinning rates associated with different age groups, educational level, and actual place of residence by mothers, and the number of previous pregnancies of the mother. Ratios of live born males compared with live born females, lengths and weights at birth both among twins and singletons, and infant mortality rates have been calculated from the data. Twinning rates are higher in the western counties, the capital and its suburbs, and lower in the eastern counties.

Miscarriage is the most common type of pregnancy loss, occurring in up to 15% of clinically recognized pregnancies. Our understanding of the etiology is still limited but is believed to be multifactorial, including endocrine and anatomical abnormalities, immunologic, genetic and lifestyle factors. The aim of this study was to explore whether genetic variability in miscarriage is under any genetic influence. 3234 MZ and DZ female twins completed postal self-completion questionnaires on pregnancies. Rates were adjusted for total number of pregnancies. The relative contribution of genetic and environmental factors to variation in miscarriage was assessed using twin intra-pair correlations and quantified using a variance components model fitting approach. We found 22.7% of our twins reporting having suffered at least one miscarriage. Current age, age at first pregnancy and higher number of pregnancies all had a significant influence on reported miscarriage. The concordance of miscarriage was similar in identical and non-identical twins, 26% and 27%, respectively. Shared environment and predominantly random error and unique environment rather than genetic factors best explained the total variation of miscarriage. To our knowledge, this is the first large twin study exploring heritability of miscarriage which unlike the vast majority of common variable traits, shows no significant genetic influence. In the absence of clear environmental factors, these results suggest the influence of random factors.

Behavioral genetic research has been conducted at the University of Warsaw for the past 20 years. The work done at the University focuses primarily on the origins of individual differences in temperament and other personality traits. In particular, research is directed toward the traits postulated in the Regulative Theory of Temperament. We also focused on the heritability of socio-political attitudes, risk factors for human health, and post-traumatic stress disorder. The majority of the research that has been carried out is grounded in twin and family studies, although recent work based on molecular techniques has also been developed. This article reviews the most important directions and findings of behavioral genetics research at the University of Warsaw.

A healthy diet is associated with the improvement or maintenance of health parameters, and several indices have been proposed to assess diet quality comprehensively. Twin studies have found that some specific foods, nutrients and food patterns have a heritable component; however, the heritability of overall dietary intake has not yet been estimated. Here, we compute heritability estimates of the nine most common dietary indices utilized in nutritional epidemiology. We analyzed 2590 female twins from TwinsUK (653 monozygotic [MZ] and 642 dizygotic [DZ] pairs) who completed a 131-item food frequency questionnaire (FFQ). Heritability estimates were computed using structural equation models (SEM) adjusting for body mass index (BMI), smoking status, Index of Multiple Deprivation (IMD), physical activity, menopausal status, energy and alcohol intake. The AE model was the best-fitting model for most of the analyzed dietary scores (seven out of nine), with heritability estimates ranging from 10.1% (95% CI [.02, .18]) for the Dietary Reference Values (DRV) to 42.7% (95% CI [.36, .49]) for the Alternative Healthy Eating Index (A-HEI). The ACE model was the best-fitting model for the Healthy Diet Indicator (HDI) and Healthy Eating Index 2010 (HEI-2010) with heritability estimates of 5.4% (95% CI [−.17, .28]) and 25.4% (95% CI [.05, .46]), respectively. Here, we find that all analyzed dietary indices have a heritable component, suggesting that there is a genetic predisposition regulating what you eat. Future studies should explore genes underlying dietary indices to further understand the genetic disposition toward diet-related health parameters.