Twin Research and Human Genetics最新文献

{"title":"Improvement in Twin Survival After Fetoscopic Laser Photocoagulation in Monochorionic Diamniotic Pregnancies with Twin-to-Twin Transfusion Syndrome: A Retrospective Cohort Study.","authors":"Vajiheh Marsoosi, Laleh Eslamian, Maryam Moghbel, Neda Nikpour, Roxana Safari, Lida Mohammadpoor, Marjan Ghaemi","doi":"10.1017/thg.2026.10068","DOIUrl":"10.1017/thg.2026.10068","url":null,"abstract":"<p><p>Twin-to-twin transfusion syndrome (TTTS) affects 10-15% of monochorionic diamniotic (MCDA) twin pregnancies and is associated with high perinatal mortality if left untreated. Selective Fetoscopic Laser Photocoagulation (SFLP) is the current standard of care for advanced-stage TTTS. This retrospective cohort study aimed to assess survival outcomes following SFLP and evaluate the learning curve associated with its implementation. It included 300 MCDA twin pregnancies with TTTS treated by SFLP from October 2018 to December 2024. Patients were chronologically divided into three equal groups (<i>n</i> = 100 per group) based on the order of procedure to assess outcome trends over time. Primary outcome was dual survival at birth; secondary outcomes included survival of at least one fetus, gestational age at delivery, birth weight, and neonatal complications. Multivariable logistic regression was used to assess clinical and procedural factors associated with dual survival, while CUSUM analysis was employed to evaluate the learning curve. Among 300 cases, dual survival was achieved in 57% of pregnancies. In multivariable logistic regression, clinical factors, including Quintero stage, placental orientation, and gestational age, were not significantly associated with outcomes (<i>p</i> > .05). The treatment cohort remained the sole independent predictor of survival, with significantly lower odds of success in Group 1 (<i>OR</i> 0.041; 95% CI [0.004, 0.429]) and Group 2 (<i>OR</i> 0.051; 95% CI [0.005, 0.492]) compared to Group 3 (<i>p</i> < .01). CUSUM analysis demonstrated that procedural competence, defined by sustained adequate survival rates, was achieved after the 141st procedure. This study demonstrates improved survival outcomes in TTTS cases treated with SFLP over time, confirming a significant institutional learning curve. The findings highlight the importance of surgical experience and procedural standardization. In resource-limited settings, establishing structured training and mentorship is essential to optimize outcomes and safely expand access to fetal therapy.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"29 3","pages":"176-182"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Twins With Feingold Syndrome: Overview and Interview/Twin Research Summaries: Pseudoamonoamniotic Twins; Selective Fetal Growth Restriction in Monoamniotic Twins; Twin Authorship Attribution; Twins Discordant for Clubfoot/Human Interest: Twins with Different Fathers; Biological Relatedness in a Married Couple; Birth of Identical Quadruplets; Twins Switching Places.","authors":"Nancy Segal","doi":"10.1017/thg.2026.10080","DOIUrl":"10.1017/thg.2026.10080","url":null,"abstract":"<p><p>A pair of young monozygotic male twins affected with Feingold syndrome were briefly described in previous issues of <i>Twin Research and Human Genetics</i>. An opportunity to meet the twins and their mother occurred in March 2026. An overview of the condition and interview with the twins' mother is presented, as are implications for future research and practice. Next, research summaries of pseudoamonoamniotic twins, selective fetal growth restriction in monoamniotic twins, twin authorship attribution, and twins discordant for clubfoot are provided. This article concludes with human interest stories involving twins with different fathers, biological relatedness in a married couple, the birth of identical quadruplets, and twins switching places.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"199-203"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148391779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Discrepancies in Crown-Rump Length and Abnormal Cord Insertion as Predictors of Selective Fetal Growth Restriction in Monochorionic Twin Pregnancies.","authors":"Jing Luo, Ping Xu, Lin Ai, Ying Feng","doi":"10.1017/thg.2026.10079","DOIUrl":"10.1017/thg.2026.10079","url":null,"abstract":"<p><p>This study aims to explore the significance of discrepancies in crown-rump length (CRL) and abnormal cord insertion in predicting selective fetal growth restriction (sFGR) in monochorionic (MC) twin pregnancies. Special attention was paid to determining the potential value of these factors in early pregnancy for predicting sFGR. A retrospective analysis included 131 pregnant women diagnosed with MC twin pregnancies. CRL was measured using a GE E8 color Doppler ultrasound instrument. Groups were compared based on the discrepancy in CRL (≥6 mm difference group, <i>n</i> = 26; <6 mm normal group, <i>n</i> = 105) and the presence of abnormal cord insertion (abnormal group, <i>n</i> = 27; normal group, <i>n</i> = 104). The study found no significant association between CRL discrepancy and postnatal birth-weight discordance suggestive of sFGR (<i>p</i> > .05). In contrast, abnormal cord insertion was significantly associated with an increased occurrence of sFGR-related outcome (<i>p</i> < .001). Specifically, sFGR-related outcome occurred in 12 of 27 cases (44.4%) in the abnormal cord insertion group, compared with 7 of 104 cases (6.7%) in the normal cord insertion group. In this retrospective MC twin cohort, abnormal cord insertion was associated with an increased risk of postnatal birth-weight discordance suggestive of sFGR, whereas CRL discrepancy showed limited discriminative ability. Because of the retrospective design, limited number of outcome events, and use of postnatal rather than standardized antenatal Doppler-based sFGR criteria, these findings should be interpreted as exploratory and require validation in larger prospective studies.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"183-188"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148412988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"THG volume 29 issue 3 Cover.","authors":"","doi":"10.1017/thg.2026.10084","DOIUrl":"https://doi.org/10.1017/thg.2026.10084","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"29 3","pages":"f1"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148680232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Serbian Twin Advanced Registry (STAR): Integrating Behavioral Genetic, Molecular Genetic, and Epigenetic Research Across the Lifespan.","authors":"Snežana Smederevac, Selka Sadiković, Bojana M Dinić, Ilija Milovanović, Dejan Pajić","doi":"10.1017/thg.2026.10045","DOIUrl":"10.1017/thg.2026.10045","url":null,"abstract":"<p><p>The Serbian Twin Advanced Registry (STAR), established in 2014, is a multigenerational resource for studying genetic, environmental, and epigenetic influences on behavior and development. STAR currently includes more than 9000 participants, extending the classical twin design to parents and siblings and enabling fine-grained modeling of genetic inheritance, cultural transmission, and shared environments. Methodological innovations include experimental procedures, virtual reality paradigms, and longitudinal, multi-informant assessments from childhood to adulthood, combined with molecular data collection. Published findings highlight heritable structures in executive functions, personality, and psychopathology, alongside environmentally shaped differences in behaviors such as aggression. Epigenetic studies have demonstrated associations between <i>COMT</i> promoter methylation and impulsivity-related traits, while ongoing genomewide analyses aim to identify environmentally mediated methylation variability. By integrating advanced methodologies with open science practices, STAR provides a sustainable platform for behavioral genetics in Serbia and contributes to international research on adaptation and psychopathology across the lifespan.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"141-150"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Comparison of Mental Health Between Mothers of Twins and Singletons.","authors":"Yoon-Mi Hur, Suk Kyung Nam, Ji Yeoun Kim","doi":"10.1017/thg.2026.10072","DOIUrl":"10.1017/thg.2026.10072","url":null,"abstract":"<p><p>This study compared mental health problems and psychiatric treatment experiences between mothers of twins and mothers of singletons, controlling for assisted reproductive technology (ART), perceived family support (PFS), and demographic covariates. Participants were 1592 South Korean mothers, including 853 mothers of singletons (<i>M</i> = 36.6 years, <i>SD</i> = 3.6) and 739 mothers of twins (<i>M</i> = 38.3 years, <i>SD</i> = 4.9), who completed an online survey assessing the General Health Questionnaire (GHQ), psychiatric treatment experience (PTE), PFS, ART use, and demographic factors. Hierarchical regression, analysis of covariance (ANCOVA), and logistic regression analyses were conducted with GHQ as the outcome variable. PTE was analyzed both as a dependent variable and as an independent variable. ART use significantly predicted GHQ scores beyond PFS, PTE, and demographics in both groups. After adjusting for all covariates, mothers of twins had higher GHQ scores than mothers of singletons, although the effect size was small (Cohen's <i>d</i> = 0.16). Logistic regression revealed that mothers of twins were more than twice as likely to have received psychiatric treatment compared to mothers of singletons (odds ratio = 2.5, 95% CI [1.8, 3.4]). These results indicate that mothers of twins experience greater mental health challenges than mothers of singletons, indicating the importance of tailored mental health screening, prevention, and intervention programs for this vulnerable group.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"158-164"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148043991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epigenomewide Association Study of Monozygotic Twins Reveals That Serum Uric Acid Influences DNA Methylation.","authors":"Runsheng Yang, Jia Luo, Dongfeng Zhang, Xiaocao Tian, Weijing Wang","doi":"10.1017/thg.2026.10063","DOIUrl":"https://doi.org/10.1017/thg.2026.10063","url":null,"abstract":"<p><p>Hyperuricemia is a common metabolic disorder and has become a global health concern. This study investigated the association between DNA methylation (DNAm) and serum uric acid (SUA) by conducting an epigenomewide association study (EWAS) in Chinese monozygotic (MZ) twins. Genomewide DNAm of 50 MZ twin pairs was profiled using the Infinium MethylationEPIC v2.0 BeadChip (935K). Generalized estimating equations (GEE) were used to examine the association between DNAm and SUA. Causal relationships between DNAm and SUA were assessed using ICE FALCON approach. Associations between mRNA expression and SUA were further assessed. Finally, candidate genes identified through epigenomewide association study (EWAS), causal inference, and gene expression analyses were validated in a longitudinal twin study. We identified 70 CpGs, mapping to genes such as <i>DOK6</i> and <i>NGLY1</i>, significantly associated with SUA (Bonferroni correction <i>p</i> < 5.8 × 10^-8). Causal analyses revealed one CpG with a causal effect of DNAm on SUA, 22 CpGs with causal effects of SUA on DNAm, and 33 CpGs showing bidirectional causality. Eleven genes displayed expression levels associated with SUA. <i>DOK6</i>, <i>NGLY1</i>, <i>PKM</i>, and <i>SLC44A1</i> were selected as candidate genes, all of which showed unidirectional causal effect of SUA on DNAm. In the longitudinal analysis, baseline SUA levels (2012-13) were associated with subsequent DNAm levels in <i>DOK6</i> and <i>NGLY1</i> genes (2023-24). In conclusion, we found that SUA levels may influence DNAm variations, particularly at CpG loci within the <i>DOK6</i> and <i>NGLY1</i> genes. These findings provide key clues for future investigations into the mechanisms linking SUA with its epigenetic regulatory pathways.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-11"},"PeriodicalIF":1.2,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Concept in Adolescent Twins: A Czech Study on Zygosity and Normative Comparison.","authors":"Klára Kargerová","doi":"10.1017/thg.2026.10059","DOIUrl":"https://doi.org/10.1017/thg.2026.10059","url":null,"abstract":"<p><p>Self-concept in adolescence plays a key role in psychological adjustment, yet its development in twins remains underexplored - especially in Central Europe. While previous studies suggest minor differences between monozygotic (MZ) and dizygotic (DZ) twins, cultural and contextual influences may affect how twins perceive themselves. This mixed-method study examined 336 Czech adolescent twins (168 twin pairs; 32 MZ, 136 DZ) aged 11-15 years. Participants completed three standardized instruments: the Behavioral and Psychological Adjustment Questionnaire (BPQA), the School Performance and Adjustment Scale (SPAS), and the Rosenberg Self-Esteem Scale (RSES). Quantitative analyses included <i>t</i> tests, Analyses of Variance (ANOVAs), and Pearson correlations. To triangulate findings, focus group interviews were conducted with three twin pairs and analyzed thematically. No statistically significant differences were found between MZ and DZ twins across BPQA, SPAS, and RSES measures. However, small, nonsignificant trends suggested slightly higher emotional self-concept scores in MZ twins. A modest gender difference emerged: girls reported more internalizing symptoms. Correlational analysis showed that lower behavioral difficulties were associated with higher school adjustment and self-esteem. Thematic analysis from focus groups confirmed key patterns such as the emotional safety of twinship and the struggle for individuality. Zygosity does not appear to be a major predictor of self-concept in early adolescence. Instead, self-perception in twins is shaped by a complex interplay of mental health, family dynamics, and peer context. Future research should compare twin self-concept development across cultures to further examine sociocultural influences.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-Ancestry, Multitrait Polygenic Risk Scores for Myopia: Improved Accuracy and Clinical Potential.","authors":"Benyapa Insawang, Guiyan Ni, Nicholas Clark, Alex W Hewitt, Puya Gharahkhani, David A Mackey, Stuart MacGregor","doi":"10.1017/thg.2026.10067","DOIUrl":"https://doi.org/10.1017/thg.2026.10067","url":null,"abstract":"<p><p>Myopia is an increasing global health concern and a leading cause of visual impairment. Genetic factors play a major role, and polygenic risk scores (PRSs) may help identify children at high risk of developing myopia. However, most PRSs are based on European populations, and accurately predicting risk across ancestries remains a challenge. We developed and evaluated PRSs for spherical equivalent refractive error (SER) and myopia using multitrait and multi‑ancestry genomewide association study data. A multitrait analysis of SER‑correlated traits identified 709 genomewide significant loci. PRSs were generated with SBayesRC for each ancestry group and for a combined multi‑ancestry model, and validated in the Australian Twins Eye Study and non‑European participants from the UK Biobank. The European PRSs explained approximately 20% of SER variance in Europeans and 18% in admixed Europeans and showed good transferability to South Asian (14%), East Asian (13%), and African (8%) groups. A multi‑ancestry PRS further improved prediction in Africans, explaining 9% of the variance. Predictive accuracy for high myopia was strong in the admixed group (AUC = 0.82, 95% CI [0.78, 0.87]), with all ancestry groups achieving AUCs of at least 0.70; European ancestry data were not available. PRS also predicted axial length in children, particularly those aged 5-8 years, where individuals in the lowest 10% of the PRS distribution had significantly longer axial lengths (β = 0.81 mm, <i>p</i> = 5.71 × 10^-3). These findings enhance genetic prediction of SER and myopia, showing the potential of multitrait, multi-ancestry PRS for early, equitable risk stratification.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-10"},"PeriodicalIF":1.2,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147964840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Mediating Role of Neurotic Personality Traits in the Relationship Between Height and Intelligence: Evidence From Mendelian Randomization and Mediation Analyses.","authors":"Hanteng Wang, Kejin Zhang","doi":"10.1017/thg.2026.10069","DOIUrl":"https://doi.org/10.1017/thg.2026.10069","url":null,"abstract":"<p><p>Observational studies report a correlation between height and intelligence, but causality and mechanisms remain unclear due to confounding and reverse causation. Using large-scale genome-wide association study (GWAS) summary data, we performed bidirectional two-sample Mendelian randomization (MR) analyses and two-step mediation analyses to examine the associations between height and intelligence (general and fluid), and potential mediation by neuroticism, body mass index (BMI), anxiety, and major depression. Genetically predicted height was positively associated with intelligence (general intelligence: β = 0.115, <i>p</i> = 1.2 × 10^-19; fluid intelligence: β = 0.266, <i>p</i> = 5.7 × 10^-22). Height was negatively associated with neuroticism (β = -0.032, <i>p</i> = 7.0 × 10^-5) and BMI (β = -0.067, <i>p</i> = .002), which were in turn negatively associated intelligence. Mediation analyses showed significant indirect effect of neuroticism (6.09%, <i>p</i> = 2.6 × 10^-4) and BMI (7.83%, <i>p</i> = 6.0 × 10^-3). No mediation was found for anxiety or depression. Reverse MR also suggested positive associations of intelligence with height. This study provides genetic evidence for bidirectional association between height and intelligence, with neuroticism and BMI as potential mediators. These findings improve our understanding of the height-intelligence relationship and its underlying psychological and metabolic pathways.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147843443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}