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ENeuro Jun 2024Language is an evolutionarily salient faculty for humans that relies on a distributed brain network spanning across frontal, temporal, parietal, and subcortical regions....
Language is an evolutionarily salient faculty for humans that relies on a distributed brain network spanning across frontal, temporal, parietal, and subcortical regions. To understand whether the complex language network shares common or distinct genetic mechanisms, we examined the relationships between the genetic effects underlying the brain responses to language and a set of object domains that have been suggested to coevolve with language: tools, faces (indicating social), and body parts (indicating social and gesturing). Analyzing the twin datasets released by the Human Connectome Project (HCP) that had fMRI data from human twin subjects (monozygotic and dizygotic) undergoing language and working memory tasks contrasting multiple object domains (198 females and 144 males for the language task; 192 females and 142 males for the working memory task), we identified a set of cortical regions in the frontal and temporal cortices and subcortical regions whose activity to language was significantly genetically influenced. The heterogeneity of the genetic effects among these language clusters were corroborated by significant differences of the human gene expression profiles (AHBA dataset). Among them, the bilateral basal ganglia (mainly dorsal caudate) exhibited a common genetic basis for language, tool, and body part processing, and the right superior temporal gyrus exhibited a common genetic basis for language and tool processing across multiple types of analyses. These results uncovered the heterogeneous genetic patterns of language neural processes, shedding light on the evolution of language and its shared origins with tools and bodily functions. Human language entails a distributed brain network spanning across frontal, temporal, parietal, and subcortical regions. To elucidate the genetic basis underlying this complex language network, we adopted the HCP fMRI twin data to examine the relationship between the genetic effects for the brain responses to language and to object domains that have been hypothesized to coevolve with language (tools, social, and body actions). The bilateral basal ganglia exhibited a common genetic basis for language, tool, and body part processing, and the right superior temporal gyrus for language and tool processing. These results provide evidence for the heterogeneous genetic patterns of language neural processes and shed light on its potential origin with tools and bodily actions.
PubMed: 38886065
DOI: 10.1523/ENEURO.0138-24.2024 -
Birth Defects Research Jun 2024In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some...
BACKGROUND
In addition to the potential for multiple pregnancies, natural conception occurring in preimplantation genetic testing (PGT) increases undesired genetic risk. Some studies showed that a dichorionic diamniotic twin pregnancy after a single blastocyst transfer could be caused by embryo splitting or concurrent spontaneous conception.
CASE
We describe a patient undergoing PGT who had a dichorionic diamniotic twin pregnancy after single blastocyst transfer in a natural cycle. In this case, we recommended to determine genetic status of the twins by prenatal diagnosis. The results showed that karyotype, chromosome copy number variation, and parental ACAT1 variation of the twins were all normal and similar. To investigate the origin of pregnancy, we used the genotype data of single-nucleotide polymorphisms typical of genome-wide association studies. Dizygotic twins were inferred by robust estimation of kinship coefficients, which confirmed the occurrence of a spontaneous conception.
CONCLUSIONS
This case strengthens the importance of genetic counseling to inform couples with reproductive genetic risk, such as those who undergo PGT, that intercourse should be avoided, especially in natural transfer cycles. Moreover, prenatal diagnosis remains essential and is strongly recommended to avoid genetic risks.
Topics: Humans; Female; Pregnancy; Preimplantation Diagnosis; Genetic Testing; Pregnancy, Twin; Adult; Embryo Transfer; Twins, Dizygotic; Fertilization in Vitro; Polymorphism, Single Nucleotide; Single Embryo Transfer
PubMed: 38872403
DOI: 10.1002/bdr2.2366 -
MedRxiv : the Preprint Server For... May 2024Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal...
BACKGROUND
Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Discordant outcomes among dizygotic twins could be explained by genetic susceptibly or protection. Among several well-recognized threats to the developing brain, Zika is a mosquito-borne, positive-stranded RNA virus that was originally isolated in Uganda and spread to cause epidemics in Africa, Asia, and the Americas. In the Americas, the virus caused congenital Zika syndrome and a multitude of neurodevelopmental disorders. As of now, there is no preventative treatment or cure for the adverse outcomes caused by prenatal Zika infection. The Prenatal Infection and Neurodevelopmental Genetics (PING) Consortium was initiated in 2016 to identify factors modulating prenatal brain injury and postnatal neurodevelopmental outcomes for Zika and other prenatal viral infections.
METHODS
The Consortium has pooled information from eight multi-site studies conducted at 23 research centers in six countries to build a growing clinical and genomic data repository. This repository is being mined to search for modifiers of virally induced brain injury and developmental outcomes. Multilateral partnerships include commitments with Children's National Hospital (USA), (Colombia), the Natural History of Zika Virus Infection in Gestation program (Brazil), and Zika (Brazil), in addition to the Centers for Disease Control and Prevention and the National Institutes of Health.
DISCUSSION
Our goal in bringing together these sets of patient data was to test the hypothesis that personal and populational genetic differences affect the severity of brain injury after a prenatal viral infection and modify neurodevelopmental outcomes. We have enrolled 4,102 mothers and 3,877 infants with 3,063 biological samples and clinical data covering over 80 phenotypic fields and 5,000 variables. There were several notable challenges in bringing together cohorts enrolled in different studies, including variability in the timepoints evaluated and the collected clinical data and biospecimens. Thus far, we have performed whole exome sequencing on 1,226 participants. Here, we present the Consortium's formation and the overarching study design. We began our investigation with prenatal Zika infection with the goal of applying this knowledge to other prenatal infections and exposures that can affect brain development.
PubMed: 38826415
DOI: 10.1101/2024.05.24.24307899 -
Behavior Genetics Jul 2024Subjective health ratings are associated with dementia risk such that those who rate their health more poorly have increased risk for dementia. The genetic and...
Subjective health ratings are associated with dementia risk such that those who rate their health more poorly have increased risk for dementia. The genetic and environmental mechanisms underlying this association are unclear, as prior research cannot rule out whether the association is due to genetic confounds. The current study addresses this gap in two samples of twins, one from Sweden (N = 548) and one from Denmark (N = 4,373). Using genetically-informed, bivariate regression models, we assessed whether additive genetic effects explained the association between subjective health and dementia risk as indexed by a latent variable proxy measure. Age at intake, sex, education, depressive symptomatology, and follow-up time between subjective health and dementia risk assessments were included as covariates. Results indicate that genetic variance and other sources of confounding accounted for the majority of the effect of subjective health ratings on dementia risk. After adjusting for genetic confounding and other covariates, a small correlation was observed between subjective health and latent dementia risk in the Danish sample (r = - .09, p < .05). The results provide further support for the genetic association between subjective health and dementia risk, and also suggest that subjective ratings of health measures may be useful for predicting dementia risk.
Topics: Humans; Dementia; Female; Male; Sweden; Denmark; Aged; Aging; Risk Factors; Health Status; Middle Aged; Aged, 80 and over; Twins, Monozygotic; Prospective Studies; Twins, Dizygotic; Self Report
PubMed: 38822218
DOI: 10.1007/s10519-024-10182-1 -
Children (Basel, Switzerland) Apr 2024Enteroviruses (EVs) are the most common causes of viral myocarditis in neonates. Neonatal enterovirus myocarditis manifestations range from nonspecific febrile illness...
Enteroviruses (EVs) are the most common causes of viral myocarditis in neonates. Neonatal enterovirus myocarditis manifestations range from nonspecific febrile illness to congestive heart failure and cardiogenic shock with high risk of in-hospital mortality and long-term cardiac sequelae. Early recognition is essential to undertake appropriate therapy and predict outcomes. Echocardiography and echo-derived left ventricular strain measures seem promising for these purposes. We herein report two cases of neonatal enterovirus-associated myocarditis in dichorionic diamniotic twins, with different presentation, clinical course, and intensity of treatments.
PubMed: 38790501
DOI: 10.3390/children11050506 -
HGG Advances May 2024While most dizygotic twins have a dichorionic placenta, rare cases of dizygotic twins with a monochorionic placenta have been reported. The monochorionic placenta in...
While most dizygotic twins have a dichorionic placenta, rare cases of dizygotic twins with a monochorionic placenta have been reported. The monochorionic placenta in dizygotic twins allows in utero exchange of embryonic cells, resulting in chimerism in the twins. In practice, this chimerism is incidentally identified in mixed ABO blood types or in the presence of cells with a discordant sex chromosome. Here, we applied whole-genome sequencing to one triplet and one twin family to precisely understand their zygotic compositions, using millions of genomic variants as barcodes of zygotic origins. Peripheral blood showed asymmetrical contributions from two sister zygotes, where one of the zygotes was the major clone in both twins. Single-cell RNA sequencing of peripheral blood tissues further showed differential contributions from the two sister zygotes across blood cell types. In contrast, buccal tissues were pure in genetic composition, suggesting that in utero cellular exchanges were confined to the blood tissues. Our study illustrates the cellular history of twinning during human development, which is critical for managing the health of chimeric individuals in the era of genomic medicine.
PubMed: 38773773
DOI: 10.1016/j.xhgg.2024.100301 -
Early Human Development Jun 2024The commentary delves into the implications of "assortative parenting" and "assortative cross-parenting," as introduced by N. L. Segal, and situates these concepts...
The commentary delves into the implications of "assortative parenting" and "assortative cross-parenting," as introduced by N. L. Segal, and situates these concepts within the framework of current research. It addresses the joys and complexities of raising twins, highlighting how their concurrent development stages can amplify parental favoritism and heighten the challenge of addressing each twin's unique needs. This interplay provides a rich context to investigate assortative parenting practices. Additionally, this paper contemplates the broader picture of twin studies, particularly how the care of monozygotic twins (who share 100 % of their genes) and dizygotic twins (who share 50 % of their genes, on average) may reveal the intertwined nature of genetics and environment in parenting strategies. It also proposes that twins' interactions with other family members, their spouses, and peers can offer profound insights into the phenomena of phenotypic assortative affiliation, enriching our understanding of close relational bonds.
Topics: Child; Humans; Parent-Child Relations; Parenting; Parents; Twins, Monozygotic
PubMed: 38749092
DOI: 10.1016/j.earlhumdev.2024.106034 -
Twin Research and Human Genetics : the... Apr 2024Between 2006 and 2021, the Hungarian Twin Registry (HTR) operated a volunteer twin registry of all age groups (50% monozygotic [MZ], 50% dizygotic [DZ], 70% female,...
Between 2006 and 2021, the Hungarian Twin Registry (HTR) operated a volunteer twin registry of all age groups (50% monozygotic [MZ], 50% dizygotic [DZ], 70% female, average age 34 ± 22 years), including 1044 twin pairs, 24 triplets and one quadruplet set. In 2021, the HTR transformed from a volunteer registry into a population-based one, and it was established in the Medical Imaging Centre of Semmelweis University in Budapest. Semmelweis University's innovation fund supported the development of information technology, a phone bank and voicemail infrastructure, administrative materials, and a new website was established where twins and their relatives (parent, foster parent or caregiver) can register. The HTR's biobank was also established: 157,751 individuals with a likely twin-sibling living in Hungary (77,042 twins, 1194 triplets, 20 quadruplets, and one quintuplet) were contacted between February and March of 2021 via sealed letters. Until November 20, 2022, 12,001 twin individuals and their parents or guardians (6724 adult twins, 3009 parents/guardians and 5277 minor twins) registered, mostly online. Based on simple self-reports, 37.6% of the registered adults were MZ twins and 56.8% were DZ; 1.12% were triplets and 4.5% were unidentified. Of the registered children, 22.3% were MZ, 72.7% were DZ, 1.93% were triplets, and 3.05% were unidentified. Of the registered twins, 59.9% were female (including both the adult and minor twins). The registration questionnaire consists of eight parts, including socio-demographic and anthropometric data, smoking habits and medical questions (diseases, operations, therapies). Hungary's twin registry has become the sole and largest population-based twin registry in Central Eastern Europe. This new resource will facilitate performing world-class modern genetic research.
Topics: Humans; Registries; Hungary; Female; Male; Adult; Twins, Dizygotic; Twins, Monozygotic; Child; Middle Aged; Adolescent; Child, Preschool; Aged; Diseases in Twins; Young Adult; Infant
PubMed: 38745426
DOI: 10.1017/thg.2024.15 -
Archives of Gynecology and Obstetrics Jul 2024In a certain proportion of dichorionic twin pregnancies, the two placentas are fused. The clinical significance of this finding remains unclear. Our objective was to... (Comparative Study)
Comparative Study
PURPOSE
In a certain proportion of dichorionic twin pregnancies, the two placentas are fused. The clinical significance of this finding remains unclear. Our objective was to compare outcomes of dichorionic twin pregnancies with fused versus separate placentas as determined on first-trimester ultrasound.
METHODS
Retrospective study of patients with dichorionic twins followed at a tertiary center between 2014 and 2022. The co-primary outcomes were fetal growth restriction and preeclampsia. Associations between fused placentas and the study outcomes were estimated using multivariable Poisson regression and were reported as adjusted relative risk (aRR) with a 95%-confidence interval (CI).
RESULTS
Of the 328 eligible patients, 175 (53.4%) and 153 (46.6%) had fused and separate placentas, respectively. Compared with pregnancies with separate placentas, patients with fused placentas had a lower risk of preeclampsia [aRR 0.48 (95%-CI 0.24-0.97)] but a higher risk of fetal growth restriction [aRR 1.23 (95%-CI 1.02-1.48)] and admission to the neonatal intensive care unit [aRR 1.31 (95%-CI 1.01-1.71)]. In addition, pregnancies with fused placentas were more likely to have a total placental weight below the 10th percentile than those with separate placentas [aRR 1.93 (95%-CI 1.16-3.21)].
DISCUSSION
Dichorionic twin pregnancies with fused placentas have a lower risk of preeclampsia but are more likely to be complicated by fetal growth restriction, observations that may be attributed to the lower total placentas mass in pregnancies with fused compared with separate placentas. Fused placentas can be used as a potential biomarker for the prediction of pregnancy complications in dichorionic twin pregnancies.
Topics: Humans; Female; Pregnancy; Retrospective Studies; Pregnancy, Twin; Placenta; Adult; Pre-Eclampsia; Fetal Growth Retardation; Twins, Dizygotic; Pregnancy Outcome; Ultrasonography, Prenatal; Pregnancy Trimester, First; Infant, Newborn
PubMed: 38727816
DOI: 10.1007/s00404-024-07548-5 -
Twin Research and Human Genetics : the... Apr 2024TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and...
TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country's population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.
Topics: Humans; Mexico; Male; Female; Gene-Environment Interaction; Registries; Adult; Diseases in Twins; Middle Aged; Twins, Monozygotic; Twins, Dizygotic; Mental Disorders; Cardiovascular Diseases
PubMed: 38699821
DOI: 10.1017/thg.2024.18