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Acta Paediatrica (Oslo, Norway : 1992) Jun 2024Genetic influences on cerebral activity have been described previously, but data are scarce in preterms. We aimed to investigate whether a genetic influence causes... (Comparative Study)
Comparative Study
AIM
Genetic influences on cerebral activity have been described previously, but data are scarce in preterms. We aimed to investigate whether a genetic influence causes amplitude-integrated electroencephalography (aEEG) signals to differ between singletons and twin preterm newborns.
METHODS
This was a retrospective single-centre study conducted at Innsbruck Medical University Hospital, Austria. Preterm infants born before 32 weeks of gestation between 6 November 2010 and 6 December 2022 were eligible for the study. The aEEG was analysed for the total maturation score, its component scores and the number of sleep-wake cycles per hour.
RESULTS
We enrolled 240 preterm twin infants (57.5% male) with a mean gestational age of 30 (range: 24-32) weeks and a mean birth weight of 1324 (range: 600-2116) grams. We compared 240 singleton matched preterms. No differences were found between preterm singletons and twin preterm infants regarding the total maturation and component scores, or the number of sleep-wake cycles. aEEG showed no difference between monozygotic and dizygotic twins.
CONCLUSION
Compared to singletons, twin infants born preterm showed no differences in aEEG signals in the first 4 weeks of life. Future studies should include more complex non-invasive functional neuroimaging methods to gain more insight into this important topic.
Topics: Humans; Electroencephalography; Infant, Newborn; Female; Male; Retrospective Studies; Infant, Premature; Twins
PubMed: 38441276
DOI: 10.1111/apa.17190 -
Journal of Biological Rhythms Jun 2024The association between circadian rhythms and diseases has been well established, while the association with mental health is less explored. Given the heritable nature...
The association between circadian rhythms and diseases has been well established, while the association with mental health is less explored. Given the heritable nature of circadian rhythms, this study aimed to investigate the relationship between genes underlying circadian rhythms and mental health outcomes, as well as a possible gene-environment correlation for circadian rhythms. Polygenic scores (PGSs) represent the genetic predisposition to develop a certain trait or disease. In a sample from the Netherlands Twin Register ( = 14,021), PGSs were calculated for two circadian rhythm measures: morningness and relative amplitude (RA). The PGSs were used to predict mental health outcomes such as subjective happiness, quality of life, and depressive symptoms. In addition, we performed the same prediction analysis in a within-family design in a subset of dizygotic twins. The PGS for morningness significantly predicted morningness ( = 1.55%) and depressive symptoms ( = 0.22%). The PGS for RA significantly predicted general health ( = 0.12%) and depressive symptoms ( = 0.20%). Item analysis of the depressive symptoms showed that 4 out of 14 items were significantly associated with the PGSs. Overall, the results showed that people with a genetic predisposition of being a morning person or with a high RA are likely to have fewer depressive symptoms. The four associated depressive symptoms described symptoms related to decision-making, energy, and feeling worthless or inferior, rather than sleep. Based on our findings future research should include a substantial role for circadian rhythms in depression research and should further explore the gene-environment correlation in circadian rhythms.
Topics: Humans; Circadian Rhythm; Male; Female; Depression; Adult; Middle Aged; Quality of Life; Multifactorial Inheritance; Netherlands; Twins, Dizygotic; Mental Health; Sleep; Genetic Predisposition to Disease; Aged; Young Adult; Chronotype
PubMed: 38425306
DOI: 10.1177/07487304241230577 -
The International Journal of Eating... May 2024Reward-based eating drives are putative mechanisms of uncontrolled eating implicated in obesity and disordered eating (e.g., binge eating). Uncovering the genetic and...
OBJECTIVE
Reward-based eating drives are putative mechanisms of uncontrolled eating implicated in obesity and disordered eating (e.g., binge eating). Uncovering the genetic and environmental contributions to reward-related eating, and their genetic correlation with BMI, could shed light on key mechanisms underlying eating and weight-related disorders.
METHOD
We conducted a classical twin study to examine how much variance in uncontrolled eating phenotypes and body mass index (BMI) was explained by genetic factors, and the extent that these phenotypes shared common genetic factors. 353 monozygotic twins and 128 dizygotic twins completed the Reward-based Eating Drive 13 scale, which measures three distinct uncontrolled eating phenotypes (loss of control over eating, preoccupation with thoughts about food, and lack of satiety), and a demographic questionnaire which included height and weight for BMI calculation. We estimated additive genetic (A), common environmental (C), and unique environmental (E) factors for each phenotype, as well as their genetic correlations, with a multivariate ACE model. A common pathway model also estimated whether genetic variance in the uncontrolled eating phenotypes was better explained by a common latent uncontrolled eating factor.
RESULTS
There were moderate genetic correlations between uncontrolled eating phenotypes and BMI (.26-.41). Variance from the uncontrolled eating phenotypes was also best explained by a common latent uncontrolled eating factor that was explained by additive genetic factors (52%).
DISCUSSION
These results suggest that uncontrolled eating phenotypes are heritable traits that also share genetic variance with BMI. This has implications for understanding the cognitive mechanisms that underpin obesity and disordered eating.
PUBLIC SIGNIFICANCE
Our study clarifies the degree to which uncontrolled eating phenotypes and BMI are influenced by shared genetics and shows that vulnerability to uncontrolled eating traits is impacted by common genetic factors.
Topics: Humans; Female; Male; Body Mass Index; Adult; Phenotype; Feeding Behavior; Twins, Monozygotic; Feeding and Eating Disorders; Twins, Dizygotic; Reward; Middle Aged; Surveys and Questionnaires; Obesity
PubMed: 38425083
DOI: 10.1002/eat.24179 -
Journal of Child Psychology and... Feb 2024Children with developmental language disorder (DLD) experience higher levels of peer victimization than their peers. However, it is not known if such associations...
BACKGROUND
Children with developmental language disorder (DLD) experience higher levels of peer victimization than their peers. However, it is not known if such associations reflect genetic and environmental confounding. We used a co-twin control design to investigate the association of language difficulties (DLD and separately poor pragmatic language) with peer victimization and compare the developmental trajectories of peer victimization across adolescence for those with and without language difficulties.
METHODS
Participants were 3,400 pairs of twins in the Twins Early Development Study (TEDS), a UK-based population birth cohort. Language abilities were assessed via online tests at age 11 and peer victimization was self-reported at ages 11, 14 and 16. Language difficulties were defined as language abilities at least -1.25 SD below the mean of the TEDS sample. We performed linear regressions and latent growth curve modeling at a population level and within monozygotic and same-sex dizygotic twin pairs.
RESULTS
At population level, youth with DLD experienced higher levels of peer victimization at ages 11 (β = 0.27, 95% Confidence Interval (CI) 0.20-0.35), 14 (β = 0.15, 95% CI 0.03-0.27) and 16 (β = 0.17, 95% CI 0.03-0.32) and a sharper decline in peer victimization between ages 11 and 16 compared to their peers without DLD. The associations between DLD and peer victimization were reduced in strength and not statistically significant in within-twin models. Moreover, there was no difference in the rate of change in peer victimization between twin pairs discordant for DLD. Results were similar for the association of poor pragmatic language with peer victimization.
CONCLUSIONS
Associations between language difficulties (DLD and separately, poor pragmatic language) and peer victimization were confounded by genetic and shared environmental factors. Identifying specific factors underlying these associations is important for guiding future work to reduce peer victimization among adolescents with language difficulties.
PubMed: 38425078
DOI: 10.1111/jcpp.13969 -
European Spine Journal : Official... Apr 2024Previous studies have suggested that genetic factors are important in the development of degenerative disk disease (DDD). However, the concordance rates for the...
PURPOSE
Previous studies have suggested that genetic factors are important in the development of degenerative disk disease (DDD). However, the concordance rates for the phenotypes requiring surgery are unknown. The purpose of this study was to determine the concordance rates for DDD requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs.
METHODS
Patients, aged between 18 and 85 years, operated for DDD between 1996 and 2022 were identified in the national Swedish spine register (Swespine) and matched with the Swedish twin registry (STR) to identify MZ and DZ twins. Pairwise and probandwise concordance rates were calculated.
RESULTS
We identified 11,207 patients, 53% women, operated for DDD. By matching the Swespine patients with the STR, we identified 121 twin pairs (37 MZ and 84 DZ) where one or both twins were surgically treated for DDD. The total twin incidence for operated DDD was 1.1%. For DDD requiring surgery, we found no concordant MZ pair and no concordant DZ pair where both twins were operated for DDD. When we evaluated pairs where at least one twin was operated for DDD, we found two concordant MZ pairs (the co-twins were operated for spinal stenosis) and two concordant DZ pairs (one co-twin operated for spinal stenosis and one (co-twin operated for disk herniation).
CONCLUSIONS
Our findings suggest that genetic factors are probably not a major etiologic component in most cases of DDD requiring surgery. The findings of this study can be used for counseling patients about the risk for requiring DDD surgery.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Male; Middle Aged; Young Adult; Diseases in Twins; Incidence; Spinal Stenosis; Twins, Dizygotic; Twins, Monozygotic
PubMed: 38416191
DOI: 10.1007/s00586-024-08161-5 -
BMC Pregnancy and Childbirth Feb 2024To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of...
Selective feticide in dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane before 24 weeks may be a safe therapeutic alternative to ongoing pregnancy.
BACKGROUND
To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of gestation. The typical management options including expectant management and/or pregnant termination, induce the risks of fetal mortality and morbidity.
OBJECTIVE
To explore the feasibility selective feticide in DCDA twins complicated with PV-ROM.
STUDY DESIGN
A Retrospective cohort study, enrolling 28 DCDA twins suffering from PV-ROM in a tertiary medical center from Jan 01 2012 to Jan 01 2022. The obstetric outcome was compared between selective feticide group and expectant management group.
RESULTS
There were 12 cases managed expectantly and 16 underwent selective feticide. More cases suffered from oligohydramnios in expectant management group compared to selective feticide group (P = 0.008). Among 13 cases with ROM of upper sac, the mean gestational age at delivery was (33.9 ± 4.9) weeks in the selective feticide group, which was significantly higher than that in the expectant management (P = 0.038). Five fetuses (83.3%) with selective feticide delivered after 32 weeks, whereas only one (14.3%) case in expectant management group (P = 0.029). However, in the subgroup with ROM of lower sac, no significant difference of the mean gestation age at delivery between groups and none of cases delivered after 32 weeks.
CONCLUSION
There was a trend towards an increase in latency interval in DCDA twins with PV-ROM following selective feticide, compared to that with expectant management. Furthermore, selective feticide in cases with PV-ROM of upper sac has a favorable outcome.
Topics: Female; Pregnancy; Humans; Infant; Pregnancy Outcome; Retrospective Studies; Pregnancy Reduction, Multifetal; Twins, Dizygotic; Abortion, Induced; Fetal Membranes, Premature Rupture; Pregnancy, Twin
PubMed: 38408929
DOI: 10.1186/s12884-024-06361-x -
The Ocular Surface Apr 2024Ocular surface disease is common and it is associated with elevated concentration levels of cytokines in tear fluid. Studies of the normal variation in tear fluid...
PURPOSE
Ocular surface disease is common and it is associated with elevated concentration levels of cytokines in tear fluid. Studies of the normal variation in tear fluid inflammatory markers are lacking. New knowledge may help guide research into ocular surface disease biomarkers and therapeutics.
METHODS
In this prospective twin cohort study, healthy individuals were recruited from a population-based registry. Tear fluid was collected with the Schirmer test strips was submerged in phosphate buffered saline and stored at -80° before undergoing 27-cytokine multiplex immunoassay analysis. Broad-sense heritability (h) of cytokine concentrations was analyzed.
RESULTS
90 participants (23 monozygotic and 22 dizygotic twin pairs) were included. Data availability allowed for heritability analysis of 15 cytokines, and a h >50% was seen for 10 cytokines. A statistical power of >80% was achieved for heritability analyses of the cytokines interferon gamma induced protein 10 (h = 94.8%), eotaxin (89.8%), interleukin 7 (86.6%), interleukin 1β (82.2%) and monocyte chemoattractant protein 1 (68.2%).
CONCLUSIONS
The tear fluid concentration of several analyzed cytokines was found to be highly heritable. A considerable amount of the inter-individual variation observed for the concentration of certain tear fluid cytokines can be linked to hereditary factors that cannot easily be modified by changing factors in the environment of patients. This suggests that a higher success in ocular surface disease drug discovery may be anticipated for drugs that have targets in specific populations, and points to the importance of emphasizing known preventive measures of ocular surface disease and examinations of close relatives of patients with ocular surface disease, such as dry eye disease.
Topics: Humans; Tears; Male; Cytokines; Prospective Studies; Female; Adult; Middle Aged; Twins, Dizygotic; Twins, Monozygotic; Young Adult; Biomarkers; Aged
PubMed: 38387783
DOI: 10.1016/j.jtos.2024.02.005 -
The Journal of Bone and Joint Surgery.... May 2024There is growing evidence to suggest a potential genetic component underlying the development and progression of lumbar spine diseases. However, the heritability and the...
BACKGROUND
There is growing evidence to suggest a potential genetic component underlying the development and progression of lumbar spine diseases. However, the heritability and the concordance rates for the phenotypes requiring surgery for the common spine diseases lumbar spinal stenosis (LSS) and lumbar disc herniation (LDH) are unknown. The aim of this study was to determine the heritability and the concordance rates for LSS and LDH requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs.
METHODS
Patients between 18 and 85 years of age who underwent surgery for LSS or LDH between 1996 and 2022 were identified in the national Swedish spine registry (LSS: 45,110 patients; LDH: 39,272 patients), and matched with the Swedish Twin Registry to identify MZ and DZ twins. Pairwise and probandwise concordance rates, heritability estimates, and MZ/DZ concordance ratios were calculated.
RESULTS
We identified 414 twin pairs (92 MZ and 322 DZ pairs) of whom 1 or both twins underwent surgery for LSS. The corresponding number for LDH was 387 twin pairs (118 MZ and 269 DZ pairs). The probandwise concordance rate for LSS requiring surgery was 0.25 (26 of 105) (95% confidence interval [CI], 0.14 to 0.34) for MZ twins and 0.04 (12 of 328) (95% CI, 0.01 to 0.07) for DZ twins. The corresponding values for LDH requiring surgery were 0.03 (4 of 120) (95% CI, 0 to 0.08) and 0.01 (4 of 271) (95% CI, 0 to 0.04), respectively. The probandwise MZ/DZ concordance ratio was 6.8 (95% CI, 2.9 to 21.5) for LSS and 2.3 (95% CI, 0 to 8.9) for LDH. The heritability was significantly higher in LSS compared with LDH (0.64 [95% CI, 0.50 to 0.74] versus 0.19 [95% CI, 0.08 to 0.35]).
CONCLUSIONS
Our findings suggest that genetic factors may play an important role in the risk of developing LSS requiring surgery, whereas heredity seems to be of less importance in LDH requiring surgery.
LEVEL OF EVIDENCE
Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.
Topics: Humans; Male; Female; Middle Aged; Aged; Lumbar Vertebrae; Adult; Spinal Stenosis; Twins, Monozygotic; Registries; Aged, 80 and over; Intervertebral Disc Displacement; Diseases in Twins; Twins, Dizygotic; Sweden; Adolescent; Young Adult; Intervertebral Disc Degeneration
PubMed: 38386722
DOI: 10.2106/JBJS.23.00902 -
Anatomical Record (Hoboken, N.J. : 2007) Feb 2024It has been estimated that 25% of monozygotic ("identical") twin pairs exhibit reverse asymmetry (RA) or "mirroring" of minor anatomical features as a result of delayed...
It has been estimated that 25% of monozygotic ("identical") twin pairs exhibit reverse asymmetry (RA) or "mirroring" of minor anatomical features as a result of delayed zygote division. Here, we examine whether identical twin mirroring accounts for patterns of dental asymmetry in a sample of monozygotic and dizygotic ("fraternal") twins. We focus on crown morphology to approach the following question: is there an association between dental RA frequency and twin type suggestive of the presence of mirror image twins in our sample? Data were collected from 208 deciduous and 196 permanent dentitions of participants of the University of Adelaide Twin Study using Arizona State University Dental Anthropology System standards. RA frequencies were compared across morphological complexes (deciduous, permanent), twin types (monozygotic, dizygotic), and traits. Fisher's exact tests were performed to formally evaluate the association between twin type and dental RA. Across the entire dataset, RA rates failed to exceed 8% for any twin type. In monozygotic twins, deciduous mirroring totaled 5.3% of observed cases, while permanent mirroring totaled 7.8% of observed cases. We found no statistically significant association between RA and twin type for any morphological character (p-value range: 0.07-1.00). Our results suggest the timing of monozygotic twin division does not explain the structure of asymmetry for our morphology dataset and that published estimates of identical twin mirroring rates may be inflated or contingent upon phenotype. Instead, rates reported for this sample more closely align with the proposed etiology of this condition.
PubMed: 38372073
DOI: 10.1002/ar.25408 -
PloS One 2024Alcohol intent (the susceptibility to initiating alcohol use) and alcohol sips (the initiation of alcohol) in youth are a multifactorial puzzle with many components....
INTRODUCTION
Alcohol intent (the susceptibility to initiating alcohol use) and alcohol sips (the initiation of alcohol) in youth are a multifactorial puzzle with many components. This research aims to examine the connection between genetic and environmental factors across sex, race and ethnicity.
METHODS
Data was obtained from the twin hub of the Adolescent Brain Cognitive Development (ABCD) study at baseline (2016-2018). Variance component models were conducted to dissect the additive genetic (A), common (C) and unique environmental (E) effects on alcohol traits. The proportion of the total alcohol phenotypic variation attributable to additive genetic factors is reported as heritability (h2).
RESULTS
The sample (n = 1,772) included an approximately equal male-female distribution. The 886 same-sex twin pairs were 60.4% dizygotic (DZ), 39.6% monozygotic (MZ), 65.4% non-Hispanic Whites, 13.9% non-Hispanic Blacks, 10.8% of Hispanics with a mean age of 121.2 months. Overall, genetic predisposition was moderate for alcohol intent (h2 = 28%, p = .006) and low for alcohol initiation (h2 = 4%, p = 0.83). Hispanics (h2 = 53%, p < .0001) and Blacks (h2 = 48%, p < .0001) demonstrated higher alcohol intent due to additive genetic factors than Whites (h2 = 34%, p < .0001). Common environmental factors explained more variation in alcohol sips in females (c2 = 63%, p = .001) than in males (c2 = 55%, p = .003). Unique environmental factors largely attributed to alcohol intent, while common environmental factors explained the substantial variation in alcohol initiation.
CONCLUSION
Sex and racial/ethnic disparities in genetic and environmental risk factors for susceptibility to alcohol initiation can lead to significant health disparities. Certain populations may be at greater risk for alcohol use due to their genetic and ecological factors at an early age.
Topics: Adolescent; Child; Female; Humans; Male; Alcohol Drinking; Ethnicity; Twins; Racial Groups
PubMed: 38359015
DOI: 10.1371/journal.pone.0298456