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Nordisk Alkohol- & Narkotikatidskrift :... Aug 2023: Heritability of alcohol use disorders (AUDs) varies widely, with reported estimates of 30-78% in twin studies. This variation might be due to methodological...
: Heritability of alcohol use disorders (AUDs) varies widely, with reported estimates of 30-78% in twin studies. This variation might be due to methodological differences (e.g., using different thresholds for AUDs, age differences between samples). : To investigate the heritability of AUDs in a nation-wide sample of male and female twins in late adolescence (18 years). : The study is based on data from 8,330 18-year-old Swedish monozygotic (MZ) and dizygotic (DZ) twins from the Child and Adolescent Twin Study (Sweden). : Univariate sex-limitation twin analyses were performed using (a) total AUDIT score, (b) different AUDIT cut-offs (AUDIT-10: potentially harmful alcohol use and most likely alcohol dependent ; AUDIT-C: potential hazardous alcohol consumption/active alcohol use disorders), and (c) a risk-group classification for alcohol dependence based on AUDIT total score. : Prevalence of potential hazardous alcohol consumption/active alcohol use was 57.1%, and for potentially harmful alcohol use prevalence was 26.5%. Prevalence was higher among females (59.0% and 31.1% respectively) than males (54.4% and 20.0% respectively). Overall, the results of the univariate model fitting indicated that there were qualitative sex differences in the genetic and environmental influences on AUDs, with generally moderate heritability estimates ranging between 0.37 and 0.50. : At odds with previous research, a harmful/hazardous drinking pattern was more common in this age group among females than a low-risk drinking pattern (where males were overrepresented). Heritability estimates were moderate throughout all measures and cut-offs, with equally high contributions from shared and non-shared environment. Sex-limitation models revealed qualitative sex differences for AUDs, suggesting that different genetic and/or environmental factors influence variation in AUDs in males and females.
PubMed: 37663054
DOI: 10.1177/14550725221090383 -
Medicina (Kaunas, Lithuania) Jul 2023: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with...
: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT). A 34-year-old multiparous female was referred to our institution at 31 + 3 weeks gestation for suspected fetal ventriculomegaly. Detailed examinations using two-dimensional and Doppler ultrasounds revealed hydrocephalus, bilateral dysplastic upper arms, radial aplasia, unilateral pulmonary agenesis, dextrocardia with right atrial enlargement, a unilateral hypoplastic ectopic kidney, a single umbilical artery, a tracheoesophageal fistula with a small stomach, polyhydramnios, and anal atresia. Findings from the postnatal 3D CT aligned with the prenatal diagnosis, showing upper-limb agenesis, dextrocardia with pulmonary hypoplasia, tracheoesophageal fistula, imperforate anus, and colon dilatation. The affected 1390-g male twin had an unaffected 1890-g female twin sister and a healthy 6-year-old brother. : Upon encountering fetuses with multiple anomalies, including ventriculomegaly, a small stomach with polyhydramnios, an abnormally positioned heart, and upper-limb abnormalities, clinicians should perform systematic ultrasonographic examinations to detect associated anomalies and be aware of VACTERL-H syndrome.
Topics: Pregnancy; Humans; Female; Male; Adult; Child; Twins, Dizygotic; Tracheoesophageal Fistula; Polyhydramnios; Hydrocephalus; Ultrasonography, Prenatal; Dextrocardia
PubMed: 37629676
DOI: 10.3390/medicina59081387 -
The Journal of Molecular Diagnostics :... Sep 2023Twin pregnancy constitutes significant risks for maternal and fetal health, which is usually detected by ultrasound examination at early gestation. However, the...
Twin pregnancy constitutes significant risks for maternal and fetal health, which is usually detected by ultrasound examination at early gestation. However, the imaging-based approach may not accurately identify all twins confounded by practical or clinical variables. The analysis of fetal cell-free DNA in noninvasive prenatal screening assays can completement the ultrasound method for twin detection, which differentiates fraternal or identical twins based on their distinct genotypes. Here, a new noninvasive prenatal screening employing high-coverage next-generation sequencing for targeted nucleotide polymorphisms was developed for detection of zygosity and determination of fetal fraction in twin pregnancies. This method utilizes a binary analysis of both the number and allelic fraction of fetus-specific single-nucleotide polymorphisms to infer the zygosity. In 323 samples collected from 215 singleton, 90 dizygotic, and 18 monozygotic twin pregnancies, all 90 dizygotic twins were correctly detected, with a 100% sensitivity and a 100% specificity. In addition, this method can detect complex pregnancies, such as egg donors, contamination, and twins with complete hydatidiform mole. The fetus-specific fetal fraction change was monitored in nine dizygotic twin pregnancies, which demonstrated highly variable dynamics of fetal cell-free DNA turnover up to 7 weeks after twin reduction. Overall, this study provides a new noninvasive prenatal screening strategy for the accurate identification of twin zygosity and quantification of fetal fraction, which has important clinical implications for the management of twin pregnancies.
Topics: Female; Pregnancy; Humans; Pregnancy, Twin; Polymorphism, Single Nucleotide; Fetus; Alleles; Cell-Free Nucleic Acids
PubMed: 37599029
DOI: 10.1016/j.jmoldx.2023.06.003 -
Scientific Reports Aug 2023Previous studies on brain connectivity correlates of autism have often focused on selective connections and yielded inconsistent results. By applying global fiber...
Previous studies on brain connectivity correlates of autism have often focused on selective connections and yielded inconsistent results. By applying global fiber tracking and utilizing a within-twin pair design, we aimed to contribute to a more unbiased picture of white matter connectivity in association with clinical autism and autistic traits. Eighty-seven twin pairs (n = 174; 55% monozygotic; 24 with clinical autism) underwent diffusion tensor imaging. Linear regressions assessed within-twin pair associations between structural brain connectivity of anatomically defined brain regions and both clinical autism and autistic traits. These were explicitly adjusted for IQ, other neurodevelopmental/psychiatric conditions and multiple testing, and implicitly for biological sex, age, and all genetic and environmental factors shared by twins. Both clinical autism and autistic traits were associated with reductions in structural connectivity. Twins fulfilling diagnostic criteria for clinical autism had decreased brainstem-cuneus connectivity compared to their co-twins without clinical autism. Further, twins with higher autistic traits had decreased connectivity of the left hippocampus with the left fusiform and parahippocampal areas. These associations were also significant in dizygotic twins alone. Reduced brainstem-cuneus connectivity might point towards alterations in low-level visual processing in clinical autism while higher autistic traits seemed to be more associated with reduced connectivity in networks involving the hippocampus and the fusiform gyrus, crucial especially for processing of faces and other (higher order) visual processing. The observed associations were likely influenced by both genes and environment.
Topics: Child; Humans; Autism Spectrum Disorder; Autistic Disorder; Brain; Child Development Disorders, Pervasive; Diffusion Tensor Imaging; Twins, Dizygotic; Twins, Monozygotic
PubMed: 37573391
DOI: 10.1038/s41598-023-39876-y -
Biological Psychiatry Mar 2024Attention-deficit/hyperactivity disorder (ADHD) and major depressive disorder (MDD) are two highly prevalent disorders that frequently co-occur. Prior evidence from...
BACKGROUND
Attention-deficit/hyperactivity disorder (ADHD) and major depressive disorder (MDD) are two highly prevalent disorders that frequently co-occur. Prior evidence from genetic and cohort studies supports an association between ADHD and MDD. However, the direction and mechanisms underlying their association remain unclear. As onset of ADHD occurs in early life, it has been hypothesized that ADHD may cause MDD.
METHODS
We examined the association of ADHD with MDD using 3 different genetically informed methods to disentangle causality from confounding: 1) a nationwide longitudinal register-based full sibling comparison (N = 1,018,489) adjusting for shared familial confounding; 2) a prospective co-twin control study comprising 16,477 twins (5084 monozygotic and 11,393 dizygotic); and 3) a two-sample Mendelian randomization analysis using the largest available ADHD (N = 225,534) and MDD (N = 500,199) genome-wide association study summary statistics, adjusting for correlated and uncorrelated horizontal pleiotropy.
RESULTS
Sibling and twin comparisons indicated that individuals with ADHD have an increased risk for subsequent development of MDD (hazard ratio = 4.12 [95% CI 3.62-4.69]) after adjusting for shared genetic and familial factors and that ADHD scores endorsed by parents are positively associated with subsequent MDD scores at ages 15 and 18 years (b = 0.07 [95% CI 0.05-0.08] and b = 0.09 [95% CI 0.08-0.11], respectively). Mendelian randomization analyses showed that genetic liability for ADHD is causally related to MDD (odds ratio = 1.15 [95% CI 1.08-1.23]).
CONCLUSIONS
Our study provides consistent results across 3 different genetically informative approaches, strengthening the hypothesis that ADHD is causally related to MDD.
Topics: Humans; Attention Deficit Disorder with Hyperactivity; Depressive Disorder, Major; Genome-Wide Association Study; Prospective Studies; Risk Factors; Mendelian Randomization Analysis
PubMed: 37562520
DOI: 10.1016/j.biopsych.2023.07.017 -
SAGE Open Medical Case Reports 2023It is a rare condition in twin pregnancies for a fetus to coexist with a complete hydatidiform mole, present with complications, and result in a healthy neonate. Only a...
It is a rare condition in twin pregnancies for a fetus to coexist with a complete hydatidiform mole, present with complications, and result in a healthy neonate. Only a few cases have been reported upon review of the literature. Early diagnosis is essential because this type of pregnancy is associated with serious complications and management challenges. The complications associated with these pregnancies include antepartum hemorrhage, hyperthyroidism, preeclampsia, prematurity, fetal death, and gestational trophoblastic neoplasia. Here, we describe a case of dizygotic twin pregnancy in which a complete mole coexists with a normal fetus, complicated by hyperthyroidism, that resulted in the birth of a 1700-g female alive neonate who is euthyroid to a 25-year-old primigravida at a gestational age of 33 weeks by emergency cesarean section for an indication of a twin pregnancy molar coexisting with an alive fetus in labor. The mother had been on conservative management and treated as an inpatient for hyperthyroidism. In our country, there have been three case reports of partial moles with coexisting alive fetuses, but this is the first case report of a complete mole with a coexisting alive fetus.
PubMed: 37533490
DOI: 10.1177/2050313X231189404 -
PloS One 2023Although genetics is known to have a role in sickness absences (SA), disability pensions (DP) and in their mutual associations, the empirical knowledge is scarce on not...
Although genetics is known to have a role in sickness absences (SA), disability pensions (DP) and in their mutual associations, the empirical knowledge is scarce on not having these interruptions, i.e., sustainable working life. Hence, we aimed to investigate how genetic and environmental factors affect individual variation in sustainable working life in short-term (two consecutive years) and in long-term (22 years of follow-up) using the classical twin modeling based on different genetic relatedness of mono- and dizygotic twins. The final sample (n = 51 071) included Swedish same-sex twins with known zygosity born between 1930 and 1990 (53% women) with complete national register data of employment, SA, DP, unemployment, old-age pension, emigration, and death. For the short-term sustainable working life, genetic factors explained 36% (95% confidence intervals (CI) 31-41%), environmental factors shared by co-twins such as family background 8% (95% CI 5-14%) and environmental factors unique to each twin individual 56% (95% CI 56-56%) on the individual differences. For the long-term sustainable working life, the largest proportions on individual differences were explained by environmental factors shared by co-twins (46%, 95% CI 44-48%) and unique to each twin individual (37% 95% CI 36-38%) whereas a small proportion was explained by genetic factors (18%, 95%CI 14-22%). To conclude, short-term sustainable working life was explained to a large extent by unique environment and to lesser extent by genetic factors whereas long-term (22 years) sustainable working life had both moderate unique and common environmental effect, and to lower extent genetic effects contributing to individual differences. These findings suggest that sustainable working life have different short- and long-term predictors.
Topics: Humans; Female; Male; Cohort Studies; Sweden; Individuality; Sick Leave; Twins, Dizygotic; Pensions
PubMed: 37498854
DOI: 10.1371/journal.pone.0289074 -
International Dental Journal Feb 2024The aim of this research was to collate and analyse the data on the oral health knowledge and the related habits of a Hungarian cohort of monozygotic (MZ) and dizygotic...
OBJECTIVE
The aim of this research was to collate and analyse the data on the oral health knowledge and the related habits of a Hungarian cohort of monozygotic (MZ) and dizygotic (DZ) twins using the newly developed World Health Organisation Oral Health Questionnaire for Adults (Annex 7).
METHOD
A total of 15 sets of MZ twins and 14 sets of DZ twins (58 individuals) aged between 18 and 71 years were enrolled in the study. Each participant had to fill out a web-based questionnaire which comprised 23 questions (Google Forms). The data were collated and the oral health/hygiene habits of MZ and DZ twins were compared.
RESULTS
No significant differences were detected between MZ and DZ twins with regards to their daily tooth-cleaning habits or the tooth-cleaning products used by the 2 groups. For instance, when asked how often they clean their teeth, 80% of MZ twins and 71% of DZ twins responded similarly. Further, both groups provided similar responses when questioned about the use of fluoride toothpaste, frequency of dental visits, and dental counselling received as well as a number of other parameters such as snacking of sweets and fear of visiting dentists.
CONCLUSIONS
Our pilot analysis of the questionnaire responses from MZ and DZ twins in Hungary did not indicate any significant differences in their oral care habits in general. Further studies with a large cohort are required to confirm or refute our findings.
Topics: Adult; Humans; Adolescent; Young Adult; Middle Aged; Aged; Twins, Dizygotic; Pilot Projects; Hungary; Oral Health; Habits
PubMed: 37482503
DOI: 10.1016/j.identj.2023.06.012 -
Acta Obstetricia Et Gynecologica... Oct 2023Pelvic girdle pain during and after pregnancy is a major public health problem with significant daily problems for affected women and their families. There is now... (Observational Study)
Observational Study
INTRODUCTION
Pelvic girdle pain during and after pregnancy is a major public health problem with significant daily problems for affected women and their families. There is now accumulating evidence that pregnancy-related pelvic girdle pain originates from the sacroiliac joints and the pubic symphysis as well as their extra-articular ligaments. However, the heritability of the disease remains to be determined. We hypothesized that there is an increased familial risk of pregnancy-related pelvic girdle pain.
MATERIAL AND METHODS
A population-based national database linkage registry study of approximately 9.3 million individuals within 4.2 million families in Sweden with a recruitment period from 1997 to 2018. The Swedish Multi-generation register was used to find female pairs of twins, full siblings, half-siblings and first cousins where both in the pairs had a completed pregnancy. The outcome measure was diagnosis of pregnancy-related pelvic girdle pain (International Classification of Diseases-10 O26.7 [1997-2018]) in the first pregnancy. Data was obtained from the Swedish Hospital Discharge Register, the Swedish Outpatient Care Register, the Swedish Medical Birth Register, the Primary Healthcare Register, and Medical Treatment Register. Cox regression analysis was used to calculate adjusted estimated effect of the exposure variable familial history of pregnancy-related pelvic girdle pain on the outcome variable pregnancy-related pelvic girdle pain at first birth.
RESULTS
From the registers, 1 010 064 women pregnant with their first child within 795 654 families were collected. In total, 109 147 women were diagnosed with pregnancy-related pelvic girdle pain. The adjusted hazard ratio for a familial risk of pregnancy-related pelvic girdle pain was 2.09 (95% CI 1.85-2.37) among twins (monozygotic and dizygotic), 1.78 (95% CI 1.74-1.82) in full siblings, 1.16 (95% CI 1.06-1.28) in half-siblings from the mother, 1.09 (95% CI 1.024-1.16) in half-siblings from the father and 1.09 (95% CI 1.07-1.12) in first cousins.
CONCLUSIONS
This nationwide observational study showed a familial clustering of pregnancy-related pelvic girdle pain. The hazard ratio for the condition was associated with the degree of relatedness, suggesting that heredity factors contribute to the development of pregnancy-related pelvic girdle pain. There is no causal treatment available for pregnancy-related pelvic girdle pain and further studies are now encouraged to clarify the specific genetic factors that contribute to the disease and for future targeted interventions.
Topics: Female; Humans; Pregnancy; Family; Genetic Predisposition to Disease; Heredity; Pelvic Girdle Pain; Pregnancy Complications; Sweden
PubMed: 37470484
DOI: 10.1111/aogs.14646