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Placenta Mar 2023Villitis of unknown etiology (VUE), chronic chorioamnionitis (CC), chronic deciduitis (CD) and chronic histiocytic intervillositis (CHI) are most likely the result of a...
Villitis of unknown etiology, chronic deciduitis, chronic chorioamnionitis and chronic histiocytic intervillositis in monozygotic and dizygotic twin pregnancies. A retrospective analysis of 16 cases.
INTRODUCTION
Villitis of unknown etiology (VUE), chronic chorioamnionitis (CC), chronic deciduitis (CD) and chronic histiocytic intervillositis (CHI) are most likely the result of a pathologic immune reaction caused by maternal anti-fetal rejection. We analyzed placentas of twin pregnancies with manifestation of these lesions in monozygotic and dizygotic instances.
METHODS
Twin pregnancies from our archive with at least one chronic inflammatory lesion were selected for further analysis and assessed concerning zygosity (gender, chorionicity, short tandem repeat (STR)-analysis).
RESULTS
The cohort comprised sixteen twin placentas, monozygotic in five cases and dizygotic in 11 cases, respectively. VUE (n = 4), CC (n = 1) and CHI (n = 3) manifested concordantly in both placentas of the monozygotic pregnancies and affected discordantly one of the twin placentas in the dizygotic instances. CD (n = 10) manifested concordantly in two and discordantly in one of the monozygotic placentas, and concordantly in three and discordantly in four of the dizygotic instances. Intrauterine fetal demise (n = 3), preterm birth (n = 9) and low birth weight (n = 2) were recognized. Discordant fetal growth in live born children was recognized in two dizygotic cases with discordant manifestation of VUE and CHI.
DISCUSSION
The concordant manifestation of VUE, CC and CHI in monozygotic and the discordant pattern of inflammation in dizygotic pregnancies points to pathologic immune mechanisms against genetically determined fetal antigens being essential for the development of these entities. The heterogenous manifestation of CD could be a hint for diverse fetal or maternal etiologic factors that may contribute to this lesion.
Topics: Pregnancy; Female; Child; Infant, Newborn; Humans; Chorioamnionitis; Retrospective Studies; Pregnancy, Twin; Premature Birth; Placenta; Placenta Diseases; Pregnancy Complications; Twins, Monozygotic; Twins, Dizygotic
PubMed: 36791493
DOI: 10.1016/j.placenta.2023.02.002 -
Prenatal Diagnosis Aug 2021To determine the ratio of dichorionic (DC) to monochorionic (MC) twins by maternal age.
OBJECTIVE
To determine the ratio of dichorionic (DC) to monochorionic (MC) twins by maternal age.
METHODS
We reviewed all twin pregnancies undergoing first trimester screening (FTS) with nuchal translucency from April 2009 to December 2012 with sonographic determination of chorionicity. Cases were linked to newborn screening (NBS) results and zygosity estimated based on rates of fetal sex discordance. The ratio of DC to MC placentation by maternal age was calculated.
RESULTS
We identified 11,351 twin pregnancies with FTS and documented chorionicity. Among these, 7,861 (64.2%) had linked data on FTS and NBS to allow estimation of zygosity based on neonatal sex. Of these, 1,464 (18.6%) were MC and 6,406 (81.4%) DC. The MC twin rate remained constant while the DC twin rate increased with maternal age until 40y. At < 20y, 55% of twin pregnancies were monozygotic (MZ), as compared to 29% at ≥ 40y. Of MZ twins, 38% were DC at < 20y, while 53% were DC at ≥ 40y.
CONCLUSIONS
Our data suggest a relationship of both zygosity and chorionicity with maternal age. DZ twinning increased with maternal age, while among MZ twins, the proportion that were DC also increased with maternal age.
Topics: Chorion; Female; Gestational Age; Humans; Infant, Newborn; Maternal Age; Pregnancy; Pregnancy, Twin; Twins, Dizygotic; Twins, Monozygotic
PubMed: 35280337
DOI: 10.1002/pd.5997 -
Clinical Epigenetics Oct 2020DNA methylation-based biological age (DNAm age) is an important biomarker for adult health. Studies in specific age ranges have found widely varying results about its...
BACKGROUND
DNA methylation-based biological age (DNAm age) is an important biomarker for adult health. Studies in specific age ranges have found widely varying results about its genetic and environmental causes of variation. However, these studies are not able to provide a comprehensive view of the causes of variation over the lifespan.
RESULTS
In order to investigate the genetic and environmental causes of DNAm age variation across the lifespan, we pooled genome-wide DNA methylation data for 4217 people aged 0-92 years from 1871 families. DNAm age was calculated using the Horvath epigenetic clock. We estimated familial correlations in DNAm age for monozygotic (MZ) twin, dizygotic (DZ) twin, sibling, parent-offspring, and spouse pairs by cohabitation status. Genetic and environmental variance components models were fitted and compared. We found that twin pair correlations were - 0.12 to 0.18 around birth, not different from zero (all P > 0.29). For all pairs of relatives, their correlations increased with time spent living together (all P < 0.02) at different rates (MZ > DZ and siblings > parent-offspring; P < 0.001) and decreased with time spent living apart (P = 0.02) at similar rates. These correlation patterns were best explained by cohabitation-dependent shared environmental factors, the effects of which were 1.41 (95% confidence interval [CI] 1.16 to 1.66) times greater for MZ pairs than for DZ and sibling pairs, and the latter were 2.03 (95% CI 1.13 to 9.47) times greater than for parent-offspring pairs. Genetic factors explained 13% (95% CI - 10 to 35%) of variation (P = 0.27). Similar results were found for another two epigenetic clocks, suggesting that our observations are robust to how DNAm age is measured. In addition, results for the other clocks were consistent with there also being a role for prenatal environmental factors in determining their variation.
CONCLUSIONS
Variation in DNAm age is mostly caused by environmental factors, including those shared to different extents by relatives while living together and whose effects persist into old age. The equal environment assumption of the classic twin study might not hold for epigenetic aging.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Aging; Case-Control Studies; Child; Child, Preschool; DNA Methylation; Epigenesis, Genetic; Epigenomics; Female; Gene-Environment Interaction; Genetic Variation; Genome-Wide Association Study; Humans; Infant; Infant, Newborn; Longevity; Male; Middle Aged; Twins, Dizygotic; Twins, Monozygotic; Young Adult
PubMed: 33092643
DOI: 10.1186/s13148-020-00950-1 -
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 -
Scientific Reports Feb 2021Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant... (Observational Study)
Observational Study
Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the first time the comprehensive assessment of diagnostically discordant monozygotic twins. From a cohort of over 2000 patients, we identified twins and triplets discordant for nystagmus. Using next-generation sequencing, high-resolution infra-red pupil tracking and optical coherence tomography, we characterised differences in genotype and phenotype. Monozygotic twins (n = 1), dizygotic twins (n = 3) and triplets (n = 1) were included. The monozygotic twins had concordant TYR variants. No causative variants were identified in the triplets. Dizygotic twins had discordant variants in TYR, OCA2 and FRMD7. One unaffected co-twin demonstrated sub-clinical nystagmus. Foveal hypoplasia (FH) was noted in four of five probands. Both co-twins of the monozygotic pair and triplets displayed FH. In three families, at least one parent had FH without nystagmus. FH alone may be insufficient to develop nystagmus. Whilst arrested optokinetic reflex pathway development is implicated in IN, discordant twins raise questions regarding where differences in development have arisen. In unaffected monozygotes therefore, genetic variants may predispose to oculomotor instability, with variable expressivity possibly responsible for the discordance observed.
Topics: Child; Child, Preschool; Cohort Studies; Cytoskeletal Proteins; DNA Mutational Analysis; Diseases in Twins; Eye-Tracking Technology; Female; Genetic Variation; High-Throughput Nucleotide Sequencing; Humans; Male; Membrane Proteins; Membrane Transport Proteins; Monophenol Monooxygenase; Mutation; Nystagmus, Pathologic; Pedigree; Tomography, Optical Coherence; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33531592
DOI: 10.1038/s41598-021-82368-0 -
Fertility and Sterility Sep 2020To investigate the relative contribution of genetic and environmental components to subfertility.
OBJECTIVE
To investigate the relative contribution of genetic and environmental components to subfertility.
DESIGN
Twin design using a quantitative genetic liability threshold model that splits the variation of subfertility into additive genetic effects, common environmental effects, and unique environmental effects.
SETTING
Not applicable.
PATIENTS
A total of 9053 Danish monozygotic and dizygotic same-sex twins aged 18+ years from nationwide twin surveys (twins born 1931-1976).
INTERVENTION
Not applicable.
MAIN OUTCOME MEASURES
Time to pregnancy (TTP) restricted to first pregnancy as a binary outcome, with a cut-off point of 10 months.
RESULTS
Based on the Akaike information criterion, a model including additive genetic and unique environmental factors resulted in the best model fit. For females, the relative contribution of additive genetic factors to TTP was 28% (95% confidence interval [CI] 15%, 41%), whereas unique environmental factors explained 72% (95% CI 59%, 85%). For males, additive genetic factors explained 4% (95% CI 0%, 22%) of the variation in TTP, while unique environmental factors accounted for 96% (95% CI 78%, 100%). Results were overall similar for the crude model and consistent across surveys.
CONCLUSION
Unique environmental factors explain most of the observed variation in subfertility, when measured as waiting time to pregnancy.
Topics: Aged; Cross-Sectional Studies; Denmark; Environment; Female; Fertility; Genetic Predisposition to Disease; Heredity; Humans; Infertility, Female; Infertility, Male; Male; Middle Aged; Phenotype; Risk Assessment; Risk Factors; Sex Factors; Time-to-Pregnancy; Twins, Dizygotic; Twins, Monozygotic
PubMed: 32624213
DOI: 10.1016/j.fertnstert.2020.03.014 -
Sleep Oct 2022While prior research has demonstrated a relationship between sleep and cognitive performance, how sleep relates to underlying genetic and environmental etiologies...
While prior research has demonstrated a relationship between sleep and cognitive performance, how sleep relates to underlying genetic and environmental etiologies contributing to cognitive functioning, regardless of the level of cognitive function, is unclear. The present study assessed whether the importance of genetic and environmental contributions to cognition vary depending on an individual's aging-related sleep characteristics. The large sample consisted of twins from six studies within the Interplay of Genes and Environment across Multiple Studies (IGEMS) consortium spanning mid- to late-life (Average age [Mage] = 57.6, range = 27-91 years, N = 7052, Female = 43.70%, 1525 complete monozygotic [MZ] pairs, 2001 complete dizygotic [DZ] pairs). Quantitative genetic twin models considered sleep duration as a primary moderator of genetic and environmental contributions to cognitive performance in four cognitive abilities (Semantic Fluency, Spatial-Visual Reasoning, Processing Speed, and Episodic Memory), while accounting for age moderation. Results suggested genetic and both shared and nonshared environmental contributions for Semantic Fluency and genetic and shared environmental contributions for Episodic Memory vary by sleep duration, while no significant moderation was observed for Spatial-Visual Reasoning or Processing Speed. Results for Semantic Fluency and Episodic Memory illustrated patterns of higher genetic influences on cognitive function at shorter sleep durations (i.e. 4 hours) and higher shared environmental contributions to cognitive function at longer sleep durations (i.e. 10 hours). Overall, these findings may align with associations of upregulation of neuroinflammatory processes and ineffective beta-amyloid clearance in short sleep contexts and common reporting of mental fatigue in long sleep contexts, both associated with poorer cognitive functioning.
Topics: Adult; Aged; Aged, 80 and over; Aging; Cognition; Female; Humans; Middle Aged; Sleep; Twins, Dizygotic; Twins, Monozygotic
PubMed: 35727734
DOI: 10.1093/sleep/zsac140 -
Twin Research and Human Genetics : the... Dec 2019The primary aim of the Guangzhou Twin Eye Study (GTES) is to explore the impact that genes and environmental influences have on common eye diseases. Since 2006,...
The primary aim of the Guangzhou Twin Eye Study (GTES) is to explore the impact that genes and environmental influences have on common eye diseases. Since 2006, approximately 1300 pairs of twins, aged 7-15 years, were enrolled at baseline. Progressive phenotypes, such as cycloplegic refraction, axial length, height and weight, have been collected annually. Nonprogressive phenotypes such as parental refraction, corneal thickness, fundus photo, intraocular pressure and DNA were collected once at baseline. We are collaborating with fellow international twin researchers and psychologists to further explore links with general medical conditions. In this article, we review the history, major findings and future research directions for the GTES.
Topics: Adolescent; Child; China; Diseases in Twins; Eye Diseases; Female; Gene-Environment Interaction; Humans; Incidence; Longitudinal Studies; Male; Phenotype; Registries; Twins, Dizygotic; Twins, Monozygotic
PubMed: 32014069
DOI: 10.1017/thg.2019.118 -
Ultrasound in Obstetrics & Gynecology :... Jan 2023Previous small studies used individualized growth assessment (IGA) to characterize prenatal growth velocities of singletons and twins. We aimed to compare...
OBJECTIVE
Previous small studies used individualized growth assessment (IGA) to characterize prenatal growth velocities of singletons and twins. We aimed to compare second-trimester growth velocities of individual anatomical parameters between monochorionic diamniotic (MCDA) twins, dichorionic diamniotic (DCDA) twins and singleton fetuses in a larger study.
METHODS
This was a study of a novel cohort of 222 MCDA twins and previously published cohorts of 40 DCDA twins and 118 singletons with serial ultrasound data. Fetal biometric measurements of biparietal diameter, head circumference, abdominal circumference and femur diaphysis length from prenatal ultrasound examinations were used to calculate second-trimester growth velocities using direct calculation or linear regression analysis. Linear fit was assessed based on the coefficient of determination (R ). Mean growth velocities and variances were compared among the three groups.
RESULTS
The majority of cases underwent three second-trimester ultrasound examinations with fetal biometry available. All fetuses had linear growth, with R > 99% for all parameters. Only 1-2% of all MCDA and DCDA anatomical parameters had abnormal growth velocity scores outside the 95% reference range for singletons. There were no significant differences in mean growth velocity for any parameter between MCDA twins and singletons. Femur diaphysis length growth velocity was significantly lower in DCDA twins than in both MCDA twins and singletons. There were no other significant differences among the groups.
CONCLUSIONS
Expanding on prior work using IGA, we found that second-trimester growth velocity of the four major anatomical parameters overall was similar between twins and singletons and between MCDA and DCDA twins, supporting the use of singleton-derived growth standards for IGA in twins. Twin growth potential appears to be similar to that of singletons in the second trimester, suggesting that subsequent growth divergence may be due to third-trimester physiological or pathological changes in twin pregnancies. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Pregnancy; Female; Humans; Pregnancy Trimester, Second; Pregnancy, Twin; Twins, Dizygotic; Pregnancy Trimester, Third; Ultrasonography, Prenatal; Immunoglobulin A; Retrospective Studies; Twins, Monozygotic
PubMed: 36273412
DOI: 10.1002/uog.26102 -
The Journal of Forensic... Sep 2020Lip print patterns are referred to as unique to each individual, but controversy exists surrounding twins. In this study, the lip prints of 19 pairs of monozygotic and...
Lip print patterns are referred to as unique to each individual, but controversy exists surrounding twins. In this study, the lip prints of 19 pairs of monozygotic and 47 pairs of dizygotic twins were studied. The left lower lip was photographed and the furrows were classified using Renaud's classification. Results showed the same lip pattern was found only in one monozygotic pair (5.3%) and in 4 dizygotic pairs (8.5%), and no significant statistical differences were found between groups (p > 0.05). In monozygotic twins only type C furrows presence displayed statistical significant differences (p=0.034). As for dizygotic twins, there were statistical significant differences in the frequency of type A (p=0.005) and type G furrows (p=0.018). As for the most common types, both groups displayed a higher prevalence of vertical furrows (type B: 97.4% and 96.8%, type A: 86.8% and 87.2%, in monozygotic and dizygotic, respectively). The least frequent furrow type was type I and type E in monozygotic (2.6% and 5.3%, respectively) and types E, F and I, in dizygotic (6.4%, 7.4%. and 7.4%, respectively). Our results seem to point out that lip print patterns should be useful carefully in twins' identification.
Topics: Diseases in Twins; Humans; Lip; Portugal; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33174536
DOI: No ID Found