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Translational Psychiatry Jun 2023The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the... (Meta-Analysis)
Meta-Analysis
The first systematic review and meta-analysis of obsessive-compulsive disorder (OCD) genetic epidemiology was published approximately 20 years ago. Considering the relevance of all the studies published since 2001, the current study aimed to update the state-of-art knowledge on the field. All published data concerning the genetic epidemiology of OCD from the CENTRAL, MEDLINE, EMBASE, BVS, and OpenGrey databases were searched by two independent researchers until September 30, 2021. To be included, the articles had to fulfill the following criteria: OCD diagnosis provided by standardized and validated instruments; or medical records; inclusion of a control group for comparison and case-control, cohort or twin study designs. The analysis units were the first-degree relatives (FDRs) of OCD or control probands and the co-twins in twin pairs. The outcomes of interest were the familial recurrence rates of OCD and the correlations of OCS in monozygotic compared with dizygotic twins. Nineteen family, twenty-nine twin, and six population-based studies were included. The main findings were that OCD is a prevalent and highly familial disorder, especially among the relatives of children and adolescent probands, that OCD has a phenotypic heritability of around 50%; and that the higher OCS correlations between MZ twins were mainly due to additive genetic or to non-shared environmental components.
Topics: Adolescent; Child; Humans; Molecular Epidemiology; Twins, Dizygotic; Databases, Factual; Research Design
PubMed: 37380645
DOI: 10.1038/s41398-023-02433-2 -
European Review For Medical and... Sep 2023Autoimmune diseases (ADs) are common conditions in which an individual's immune system reacts against its healthy cells. This condition is a common cause of morbidity... (Review)
Review
Autoimmune diseases (ADs) are common conditions in which an individual's immune system reacts against its healthy cells. This condition is a common cause of morbidity and mortality, with an estimated prevalence ranging from 5 per 100,000 to more than 500 per 100,000. According to the National Stem Cell Foundation (NSCF), ADs are prevalent in about 4% of the world's population, which creates a burden on society due to the high treatment cost. ADs show a clear gender bias with a higher prevalence among women, occurring at a rate of 2:1 female-to-male ratio. The etiology of ADs includes genetic and environmental factors. ADs are more likely to develop in genetically susceptible individuals. The higher concordance ratio between monozygotic twins compared to dizygotic twins or other siblings validates the role of genetic factors in the pathogenesis of many ADs. ADs diagnosis includes conventional immunoassay such as indirect immunofluorescence, complement fixation, passive agglutination, autoantibodies detection, and most recent advances, including multiplex platforms such as microspots, line-blot, addressable microbeads and barcoded nanoparticles that allow multiplex parallel testing of autoantibodies. ADs treatment includes biological and synthetic drugs that block many pathways and components of the immune system, including Janus kinase (JAK) inhibitors, non-receptor tyrosine-protein kinase (TYK2), and other cytokines. Generally, recent immune-modulatory drugs used in ADs treatment are non-disease specific with broad action and are associated with many side effects like infection and malignant diseases. Furthermore, gene therapy seeks to control the levels of proinflammatory cytokine molecules and lymphocyte infiltration through the delivery and expression of therapeutic genes. Recent genomic-wide association studies (GWAS) have allowed the identification of various genetic loci associated with disease susceptibility and have revealed candidate genes that can be used in targeted therapeutics. This review summarizes recent literature on the genetic factors associated with susceptibility to the 11 most common ADs, namely: Type 1 diabetes mellitus (T1DM), Multiple sclerosis (MS), Grave's disease, Sjögren's syndrome (SS), Celiac disease, Hashimoto's thyroiditis (HT), Anti-phospholipid syndrome (APS), Autoimmune hemolytic anemia, Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Scleroderma (systemic sclerosis).
Topics: Female; Male; Humans; Genome-Wide Association Study; Sexism; Autoimmune Diseases; Sjogren's Syndrome; Lupus Erythematosus, Systemic; Autoantibodies; Scleroderma, Systemic
PubMed: 37782163
DOI: 10.26355/eurrev_202309_33772 -
Acta Obstetricia Et Gynecologica... May 2021Large birthweight discrepancy has been identified as a risk factor for perinatal morbidity and mortality in twin pregnancies. However, it remains unclear whether such...
INTRODUCTION
Large birthweight discrepancy has been identified as a risk factor for perinatal morbidity and mortality in twin pregnancies. However, it remains unclear whether such discordance can be predicted by various biological indices with specific cut-off values, and how these depend on the gestational age. We aimed to determine the most effective way to predict large birthweight discordance at various gestational ages.
MATERIAL AND METHODS
A retrospective cohort study of dichorionic twins, live-born between 2008 and 2018, was conducted. Discordances in biparietal diameter, head circumference, humerus and femur length, abdominal circumference, and estimated fetal weight were calculated-([larger twin - smaller twin] / larger twin) × 100%-and compared between those with and without a large birthweight discordance (≥20%). Receiver operating characteristic curves were constructed to analyze the predictive characteristics of each parameter.
RESULTS
Of 598 dichorionic twin pregnancies included, 83 (13.9%) had a birthweight discordance ≥20%. Group differences in biparietal diameter and head circumference discordance were the earliest to emerge (before 20 weeks of gestation), but became insignificant after 36 weeks, followed by humerus and femur length, estimated fetal weight discordance (after 20 weeks), and abdominal circumference discordance (after 28 weeks). The best predictors (with cut-off values) were discordance in biparietal diameter ≥7.8% at <20 weeks, head circumference ≥4.5% at 20-23 weeks, humerus length ≥4.5% at 24-27 weeks, and estimated fetal weight discordance (≥11.6% at 28-31 weeks, ≥10.5% at 32-35 weeks, and ≥15.0% ≥36 weeks), with sensitivity and specificity of 52%-77% and 69%-82%, respectively.
CONCLUSIONS
Different predictors and cut-off values may be useful for predicting large inter-twin birthweight discordance in dichorionic twins at different gestational ages. It is more accurate to use biparietal diameter and head circumference discordance in the early second trimester, humerus length discordance in the late second trimester, and estimated fetal weight discordance in the third trimester.
Topics: Adult; Birth Weight; Body Weights and Measures; Female; Fetal Weight; Gestational Age; Humans; Infant, Newborn; Predictive Value of Tests; Pregnancy; Pregnancy Trimesters; Pregnancy, Twin; Retrospective Studies; Twins, Dizygotic; Ultrasonography, Prenatal
PubMed: 33253418
DOI: 10.1111/aogs.14055 -
Frontiers in Cellular and Infection... 2021The objectives are to estimate the vertical transmission rate in twins relative to singleton pregnancies, to evaluate whether discordance within twin pairs is rare, and...
OBJECTIVE
The objectives are to estimate the vertical transmission rate in twins relative to singleton pregnancies, to evaluate whether discordance within twin pairs is rare, and to characterize concordance within monozygotic and dizygotic twin pairs in relation to hereditability.
METHODS
We first sought to estimate the vertical transmission rate of congenital CMV infection in twins by gathering cohort-based studies of congenital CMV in which vertical transmission in both singleton and twin pregnancies was reported. This also allowed us to compare singleton and twin infection rates. From the above studies and other large cohorts of congenitally infected infants, the percentage of discordantly infected twin pairs determined whether this is a rare phenomenon. Theorizing discordance is not rare, we then analyzed data from cases with twin outcomes for congenital CMV infection, according to whether the twins were monozygotic or dizygotic, and calculated their corresponding concordance rates to estimate the broad-sense heritability. Lastly, we described other factors that might affect vertical transmission.
RESULTS
From five articles following at-risk pregnancies, the rate of vertical transmission in twin pregnancies is 58.7% (95% CI 43.3-72.3%) whereas in singleton pregnancies it is 31.4% (95% CI: 29.0-34.0%) = 0.0002. Of ten studies of larger cohorts of infants with congenital CMV infection, 21 of 42 twin pairs with at least one twin infected were discordant for congenital CMV (50.0%, 95% CI: 34.4-65.6%) indicating discordance of congenital CMV infection in twin pairs is not rare. Of 28 studies covering 37 twin pairs where at least one twin had congenital CMV, and zygosity was known, eleven of thirteen monozygotic twin pairs (84.6%; 95% CI: 53.7-97.3%) were concordant for CMV infection, and nine of twenty-four dizygotic twin pairs (37.5%; 95% CI: 19.6-59.2%) were concordant for infection giving an estimated hereditability of 94.2%. Within these 37 twin pairs, factors such as primary or recurrent maternal infection, prematurity, growth discordance, and sex are described; however, in many of these cases these factors are unknown.
CONCLUSION
The rate of vertical transmission of congenital CMV is higher for twins than singletons. Discordance of congenital CMV in twins is not rare and suggests a possible genetic susceptibility to congenital CMV.
Topics: Cytomegalovirus; Diseases in Twins; Female; Humans; Pregnancy; Pregnancy, Twin; Twins, Dizygotic; Twins, Monozygotic
PubMed: 34350131
DOI: 10.3389/fcimb.2021.676988 -
ARYA Atherosclerosis Feb 2023The Isfahan Twin Cohort (ITC) aims to provide a comprehensive understanding of the interplay between genetics and environment in the development of Non-Communicable...
BACKGROUND
The Isfahan Twin Cohort (ITC) aims to provide a comprehensive understanding of the interplay between genetics and environment in the development of Non-Communicable Diseases (NCDs). As a type of specialized epidemiological investigation, twin studies are designed to quantify the contribution of genetics to a particular phenotype when confronted with environmental factors. In this context, the present study aims to present a detailed overview of the ITC methodology.
METHOD
The ITC is a prospective longitudinal study started in 2020. Data collection, including the demographics, socioeconomic status, health-related habits, medical history, and zygosity of the participants, was performed using validated questionnaires. Moreover, anthropometric measurements and blood pressure assessments were performed by a trained nurse. Also, fasting blood and morning urine samples were collected during a morning visit, and biochemical investigations were conducted at the central laboratory of the Isfahan Cardiovascular Research Institute. The participants underwent follow-up telephone interviews biannually, in which brief questionnaires were filled out on the changes in the lifestyle factors of the participants, such as diet, physical activity, psychological factors, and smoking habits. The second and final follow-up visit will include complete assessments, including blood and biological sample collections, similar to the baseline assessment.
RESULTS
The ITR has registered a total of 112 (n=224) monozygotic and 291 (n=582) dizygotic twin pairs during two years. The age range of the participants is 1 month to 56 years. Until November 2020 / 2021, the registered twins were categorized by age and included 48 pairs (n=96) in the infant group (monozygotic: 7 pairs, dizygotic: 41 pairs); 283 pairs (n=566) in the early childhood, late childhood, and adolescent groups (monozygotic: 74 pairs, dizygotic: 209 pairs); and 72 pairs (n=144) in the adult group (monozygotic: 31 pairs, dizygotic: 41 pairs).
CONCLUSIONS
The cohort is being prospectively followed with plans to investigate the clinical utility of the newly developed biomarkers and gene-environmental interactions in the future.
PubMed: 38883568
DOI: 10.48305/arya.2023.11881.2711 -
Investigative Ophthalmology & Visual... Jul 2023The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the...
PURPOSE
The relative importance of genetic factors in common vitreomacular interface (VMI) abnormalities is unknown. The aim of this classical twin study is to determine the prevalence case wise concordance between monozygotic and dizygotic twin pairs, and heritability of common VMI abnormalities, including epiretinal membrane (ERM), posterior vitreous detachment (PVD), vitreomacular adhesion (VMA), vitreomacular traction (VMT), lamellar macular holes (LMHs), and full-thickness macular holes (FTMHs).
METHODS
This is a single-center, cross-sectional classical twin study of 3406 TwinsUK participants over the age of 40 years who underwent spectral domain macular optical coherence tomography (SD-OCT) scans which were graded for signs of VMI abnormalities. Case wise concordance was calculated and the heritability of each VMI abnormality was estimated using OpenMx structural equation modeling.
RESULTS
In this population (mean age = 62.0 years [SD = 10.4 years], range = 40-89 years) the overall prevalence of ERM was 15.6% (95% confidence interval [CI] = 14.4-16.9) and increased with age, posterior vitreous detachment affected 21.3% (20.0-22.7), and VMA was diagnosed in 11.8% (10.8-13.0). Monozygotic twins were more concordant for all traits than dizygotic twins, and age, spherical equivalent refraction (SER), and lens status-adjusted heritability was estimated at 38.9% (95% CI = 33.6-52.8) for ERM, 53.2% (95% CI = 41.8-63.2) for PVD, and 48.1% (95% CI = 33.6-58) for VMA.
CONCLUSIONS
Common VMI abnormalities are heritable and therefore have an underlying genetic component. Given the sight-threatening potential of VMI abnormalities, further genetic studies, such as genomewide association studies, would be useful to identify genes and pathways implicated in their pathogenesis.
Topics: Humans; Adult; Middle Aged; Aged; Aged, 80 and over; Vitreous Detachment; Retinal Perforations; Vitreous Body; Prevalence; Cross-Sectional Studies; Retinal Diseases; Epiretinal Membrane; Orbital Diseases; Tomography, Optical Coherence; Retrospective Studies
PubMed: 37428499
DOI: 10.1167/iovs.64.10.9 -
Frontiers in Medicine 2022Gender differences in ocular biometric measurements of opposite-sex and same-sex twin pairs are still unclear. We aimed to investigate the difference between ocular...
OBJECTIVE
Gender differences in ocular biometric measurements of opposite-sex and same-sex twin pairs are still unclear. We aimed to investigate the difference between ocular biometric measurements in adolescent twin pairs.
MATERIALS AND METHODS
This retrospective study included a total of 64 eyes of 64 adolescents from 32 twins. The ocular biometric measurements and refractive prediction error (RE) were acquired from four groups of dizygotic (DZ) twins: boys from same-sex twin-pairs (SSM, = 20), boys from opposite-sex twin-pairs (OSM, = 8), girls from opposite-sex twin-pairs (OSF, = 8), and girls from same-sex twin-pairs (SSF, = 29).
RESULTS
The mean age of the patient was 9.92 ± 2.84 (range: 6-18) years. Overall, boys had higher height, AL, WTW, but lower Ks, and Kf than girls ( < 0.05). Specifically, SSF was found to have the lowest lens thickness (LT), anterior chamber depth (ACD), central corneal thickness (CCT), white to white (WTW), and axial length (AL) levels, while the highest keratometry readings in the flat (Kf) and steep (Ks) levels compared with OSM, OSF, and SSM adolescents ( < 0.05). Compared with the OSF adolescents, ACD levels of the SSF adolescents were significantly lower [(2.99 ± 0.35) and (3.26 ± 0.15) mm, = 0.033)], but Kf indicator was significantly larger [(43.93 ± 1.64) and (42.91 ± 1.75), = 0.016)].
CONCLUSION
Our study indicates that there was a significant difference in ocular biometric measurements between twin pairs, and sharing the uterus with a DZ twin SSF has smaller ocular indicator measurements. Our findings provide information on the eyeball and refractive development in adolescents.
PubMed: 36465927
DOI: 10.3389/fmed.2022.936738 -
Biomedicines Sep 2022The purpose of the research was to assess the genetic and environmental influences on bone properties. One hundred thirty-two pairs of twins (99/33...
The purpose of the research was to assess the genetic and environmental influences on bone properties. One hundred thirty-two pairs of twins (99/33 monozygotic/dizygotic) underwent anthropometric measurements and phalangeal quantitative ultrasound (DBM Sonic 1200, Igea, Italy) measuring the amplitude speed of sound (AD-SoS, m/s). The mean age was 16.78 ± 12.35 years for monozygotic twins and 14.30 ± 8 years for dizygotic. Interpair and intrapair correlations between twins were calculated. In the groups of monozygotic and dizygotic twins, Ad-SoS correlated significantly with age (r = 0.56−0.73, p < 0.05), weight (r = 0.73−0.78, p < 0.05), and height (r = 0.80−0.81, p < 0.05). The strongest intrapair correlation (r = 0.99−0.998) was noted in monozygotic females for Ad-SoS, weight, and height. There was a statistically significant correlation between the intrapair difference of Ad-SoS and age but only in the groups of monozygotic and dizygotic females (r = 0.281, r2 = 0.079, and p = 0.028; r = 0.544, r2 = 0.296, and p = 0.01, respectively). After age adjustment, it was estimated that 28.62% of Ad-SoS in women and 13.2% of Ad-SoS in men was explained by genetic influence, leading to the conclusion that Ad-SoS changed with age, weight, and height. The strongest correlation between pairs of twins was observed in monozygotic twins. The differences in bone values between female twins arose with age, which indicated the role of environmental factors.
PubMed: 36289621
DOI: 10.3390/biomedicines10102360 -
Metabolites May 2022Variation in metabolite levels reflects individual differences in genetic and environmental factors. Here, we investigated the role of these factors in urinary...
Variation in metabolite levels reflects individual differences in genetic and environmental factors. Here, we investigated the role of these factors in urinary metabolomics data in children. We examined the effects of sex and age on 86 metabolites, as measured on three metabolomics platforms that target amines, organic acids, and steroid hormones. Next, we estimated their heritability in a twin cohort of 1300 twins (age range: 5.7-12.9 years). We observed associations between age and 50 metabolites and between sex and 21 metabolites. The monozygotic (MZ) and dizygotic (DZ) correlations for the urinary metabolites indicated a role for non-additive genetic factors for 50 amines, 13 organic acids, and 6 steroids. The average broad-sense heritability for these amines, organic acids, and steroids was 0.49 (range: 0.25-0.64), 0.50 (range: 0.33-0.62), and 0.64 (range: 0.43-0.81), respectively. For 6 amines, 7 organic acids, and 4 steroids the twin correlations indicated a role for shared environmental factors and the average narrow-sense heritability was 0.50 (range: 0.37-0.68), 0.50 (range; 0.23-0.61), and 0.47 (range: 0.32-0.70) for these amines, organic acids, and steroids. We conclude that urinary metabolites in children have substantial heritability, with similar estimates for amines and organic acids, and higher estimates for steroid hormones.
PubMed: 35736407
DOI: 10.3390/metabo12060474 -
BMC Ophthalmology Jun 2023The present study was aimed to compare the epidemiological and ocular findings of twin children in comparison with non- twin age matched individuals as their control.
PURPOSE
The present study was aimed to compare the epidemiological and ocular findings of twin children in comparison with non- twin age matched individuals as their control.
METHODS
In this cross sectional study, a total of 90 twins (180 cases) were compared with 182 non- twin matched children. All the study participants were examined by a comprehensive ophthalmic examination including measurement of the best corrected visual acuity (BCVA), cycloplegic refraction, ocular deviation, strabismus as well as the anterior and posterior ophthalmic examinations. Demographic information of children were collected by using an organized questionnaire. Monozygotic twins were considered if there were similarity of their phenotypic characteristics and gender, otherwise the twins were considered as dizygotic.
RESULTS
The mirror- image twins (MIT) was defined according to the laterality of symmetrical ocular characteristics of twins. In this study, the mean age of the study participants was 7.08±4.42 and 7.58±3.99 years in twins and non-twins groups, respectively (P=0.253). Among the twins, 27 (30%) were monozygotic. Refractive form of MIT was seen in 5 twins (2.8%). The spherical refractive error was more hyperopic in twins compared to non- twins (P=0.041). BCVA in the twin group (0.07±0.16LogMAR) was significantly worse than non-twins (0.03±0.08LogMAR, P < 0.001) and higher percentage of them were amblyopic (37.2% versus 10.4%, P=0.005). Twin and controls had strabismus in 17.2% and 1.6%, respectively (P < 0.001). Regarding the comparison between mono- and dizygotic twins, more significant percentage of monozygotic twins had amblyopia (P=0.004) and strabismus (P=0.047). Multivariate analysis showed significant correlation among low gestational age and female gender, low birth weight and seizure.
CONCLUSION
Female sex, less gestational age, low birth weight, amblyopia and strabismus were significantly higher in twins. Therefore, it is important to check their refractive error, amblyopia and strabismus to prevent their further complications.
Topics: Child; Child, Preschool; Female; Humans; Amblyopia; Cross-Sectional Studies; Epidemiologic Factors; Refractive Errors; Strabismus; Twins, Monozygotic; Visual Acuity; Male
PubMed: 37264366
DOI: 10.1186/s12886-023-02983-5