Twin Research and Human Genetics最新文献

{"title":"Evolutionary Trends of Polygenic Scores in European Populations From the Paleolithic to Modern Times.","authors":"Davide Piffer, Emil O W Kirkegaard","doi":"10.1017/thg.2024.8","DOIUrl":"10.1017/thg.2024.8","url":null,"abstract":"<p><p>This study examines the temporal and geographical evolution of polygenic scores (PGSs) across cognitive measures (Educational Attainment [EA], Intelligence Quotient [IQ]), Socioeconomic Status (SES), and psychiatric conditions (Autism Spectrum Disorder [ASD], schizophrenia [SCZ]) in various populations. Our findings indicate positive directional selection for EA, IQ, and SES traits over the past 12,000 years. Schizophrenia and autism, while similar, showed different temporal patterns, aligning with theories suggesting they are psychological opposites. We observed a decline in PGS for neuroticism and depression, likely due to their genetic correlations and pleiotropic effects on intelligence. Significant PGS shifts from the Upper Paleolithic to the Neolithic periods suggest lifestyle and cognitive demand changes, particularly during the Neolithic Revolution. The study supports a mild hypothesis of Gregory Clark's model, showing a noticeable rise in genetic propensities for intelligence, academic achievement and professional status across Europe from the Middle Ages to the present. While latitude strongly influenced height, its impact on schizophrenia and autism was smaller and varied. Contrary to the cold winters theory, the study found no significant correlation between latitude and intelligence.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"30-49"},"PeriodicalIF":1.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040435","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":"Partnership with the University of São Paulo Panel of Twins: A Four-City Tour and More / Twin Research Reviews: Twin Research on Binge Eating; Twins' Physical Outcomes Linked to Different Diets; Working Conditions and Sickness Absence in Swedish Twins; Facial Morphology Differences in Monozygotic Twins / Human Interest and Importance: Michigan Family Forced to Adopt Their Own Twins; Ethics of Hiring a Surrogate to Bear Twins; Twin Survivors of the Israel-Hamas War; Twin Pregnancy with Double Uterus; Three Twin Pairs on Same Women's Soccer Team.","authors":"Nancy L Segal","doi":"10.1017/thg.2024.1","DOIUrl":"10.1017/thg.2024.1","url":null,"abstract":"<p><p>This article begins with an overview of twin research in Brazil, initiated by the University of São Paulo Panel of Twins. I met with many new research collaborators and students while on a fall 2023 four-city lecture tour in that country. A meeting with a world-famous surgeon who recently separated craniopagus conjoined twin pairs is also described. This overview is followed by summaries of twin research on binge eating, twins' physical outcomes linked to different diets, working conditions and sickness absence in Swedish Twins and facial morphology differences in monozygotic twins. The final section of this article provides a sampling of human interest stories with important implications. They include a Michigan family forced to adopt their own twins, ethical issues surrounding the hiring of a surrogate to bear twins; twin survivors of the Israel-Hamas war, a twin pregnancy with a double uterus, and three twin pairs on the same women's soccer team.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"64-68"},"PeriodicalIF":1.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139913606","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":"Exploring Hematological and Biochemical Disparities in Same-Sex and Opposite-Sex Females: A Cross-Sectional Twin Study in a Ghanaian Population.","authors":"Moses Banyeh, Benjamin N Mayeem, Moses Kofi Woli, Augusta S Kolekang, Clement Binwatin Dagungong, David Bure, Romarick Kofi Wemegah, Mikail Ihsan Azindow, Suleman Yakubu, Musah Seidu, Mohammed Madde Baba, Elisha Essoun, Nancy Owireduwaa","doi":"10.1017/thg.2024.7","DOIUrl":"10.1017/thg.2024.7","url":null,"abstract":"<p><p>There are sex-dependent differences in hematological and biochemical variables in adulthood attributed to the predominant effects of testosterone in males and estrogen in females. The Twin Testosterone Transfer (TTT) hypothesis proposes that opposite-sex females may develop male-typical traits due to exposure to relatively higher levels of prenatal testosterone than same-sex females. Additionally, prenatal testosterone exposure has been suggested as a correlate of current circulating testosterone levels. Consequently, opposite-sex females might exhibit male-typical patterns in their hematological and biochemical variables. Despite this hypothesis, routine laboratory investigations assign the same reference range to all females. Our cross-sectional study, conducted in Tamale from January to September 2022, included 40 twins, comprising 10 opposite-sex (OS) males (25%), 10 OS females (25%), and 20 same-sex (SS) females (50%), all aged between 18 and 27 years. Fasting venous blood samples were collected and analyzed using automated hematology and biochemistry laboratory analyzers. Results indicated that levels of hemoglobin, serum creatinine, gamma-glutamyl transferase, total protein, globulins, and total testosterone were significantly higher in OS males than OS females. Conversely, total cholesterol and low-density lipoprotein cholesterol were significantly higher in OS females than OS males. Unexpectedly, levels of low-density lipoprotein cholesterol and total testosterone were significantly higher in SS females than OS females. Contrary to expectations, opposite-sex females did not exhibit male-typical patterns in their hematological and biochemical variables. This suggests that the TTT effect may not occur or may not be strong enough to markedly affect hematological and biochemical variables in OS females.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"50-55"},"PeriodicalIF":1.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140040451","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":"DNA Methylation Mediated the Association of Body Mass Index With Blood Pressure in Chinese Monozygotic Twins.","authors":"Jie Yao, Feng Ning, Weijing Wang, Dongfeng Zhang","doi":"10.1017/thg.2024.3","DOIUrl":"10.1017/thg.2024.3","url":null,"abstract":"<p><p>Obesity is an established risk factor for hypertension, but the mechanisms are only partially understood. We examined whether body mass index (BMI)-related DNA methylation (DNAm) variation would mediate the association of BMI with blood pressure (BP). We first conducted a genomewide DNA methylation analysis in monozygotic twin pairs to detect BMI-related DNAm variation and then evaluated the mediating effect of DNAm on the relationship between BMI and BP levels using the causal inference test (CIT) method and mediation analysis. Ontology enrichment analysis was performed for CpGs using the GREAT tool. A total of 60 twin pairs for BMI and systolic blood pressure (SBP) and 58 twin pairs for BMI and diastolic blood pressure (DBP) were included. BMI was positively associated with SBP (β = 1.86, <i>p</i> = .0004). The association between BMI and DNAm of 85 CpGs reached <i>p</i> < 1×10^-4 level. Eleven BMI-related differentially methylated regions (DMRs) within <i>LNCPRESS1</i>, <i>OGDHL</i>, <i>RNU1-44P</i>, <i>NPHS1</i>, <i>ECEL1P2</i>, <i>LLGL2</i>, <i>RNY4P15</i>, <i>MOGAT3</i>, <i>PHACTR3</i>, and <i>BAI2</i> were found. Of the 85 CpGs, 9 mapped to <i>C10orf71-AS1</i>, <i>NDUFB5P1</i>, <i>KRT80</i>, <i>BAI2</i>, <i>ABCA2</i>, <i>PEX11G</i> and <i>FGF4</i> were significantly associated with SBP levels. Of the 9 CpGs, 2 within <i>ABCA2</i> negatively mediated the association between BMI and SBP, with a mediating effect of -0.24 (95% CI [-0.65, -0.01]). BMI was also positively associated with DBP (β = 0.60, <i>p</i> = .0495). The association between BMI and DNAm of 193 CpGs reached <i>p</i> < 1×10^-4 level. Twenty-five BMI-related DMRs within <i>OGDHL</i>, <i>POU4F2</i>, <i>ECEL1P2</i>, <i>TTC6</i>, <i>SMPD4</i>, <i>EP400</i>, <i>TUBA1C</i> and <i>AGAP2</i> were found. Of the 193 CpGs, 33 mapped to <i>ABCA2</i>, <i>ADORA2B</i>, <i>CTNNBIP1</i>, <i>KDM4B</i>, <i>NAA60</i>, <i>RSPH6A</i>, <i>SLC25A19</i> and <i>STIL</i> were significantly associated with DBP levels. Of the 33 CpGs, 12 within <i>ABCA2</i>, <i>SLC25A19</i>, <i>KDM4B</i>, <i>PTPRN2</i>, <i>DNASE1</i>, <i>TFCP2L1</i>, <i>LMNB2</i> and <i>C10orf71-AS1</i> negatively mediated the association between BMI and DBP, with a total mediation effect of -0.66 (95% CI [-1.07, -0.30]). Interestingly, BMI might also negatively mediate the association between the DNAm of most CpG mediators mentioned above and BP. The mediating effect of DNAm was also found when stratified by sex. In conclusion, DNAm variation may partially negatively mediate the association of BMI with BP. Our findings may provide new clues to further elucidate the pathogenesis of obesity to hypertension and identify new diagnostic biomarkers and therapeutic targets for hypertension.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"18-29"},"PeriodicalIF":1.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643008","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":"Family History of Twinning and Fertility Traits in Nigerian Mothers of Dizygotic Twins.","authors":"Yoon-Mi Hur, Nick Martin, Olakunle Oginni, Dorret Boomsma, Nikki Hubers, Hamdi Mbarek","doi":"10.1017/thg.2024.2","DOIUrl":"10.1017/thg.2024.2","url":null,"abstract":"<p><p>Familial twinning and fertility traits were investigated in Nigerian mothers of dizygotic (DZ) twins (MoDZT; <i>N</i> = 972) and controls (<i>N</i> = 525) who responded to our person-to-person interview, which included questions on pregnancy history and family history of DZ twinning. Controls were defined as women who are not twins themselves and do not have twins in their first-degree relatives. Over 95% of the participants were Yoruba. We found that Nigerian MoDZT had an average of 4.0 (±2.6) pairs of twins among their relatives, and of these, the prevalence of DZ twins was significantly higher than that of monozygotic (MZ) twins (45.9% vs. 25.8%). Controls had an average of 0.5 (±0.4) pairs, and over 95% of the controls had no twins in their relatives. These results suggest genetic influences on DZ twinning in Nigerians. MoDZT were significantly younger in their mean age at first child, and had higher parity than controls, suggesting increased fertility in MoDZT. As compared to mothers with a single set of twins, mothers (<i>N</i> = 130) with multiple sets had significantly more twins among their relatives (5.4 pairs vs. 3.7 pairs) and had their first twins at a younger age (28.4 vs. 30.7 years), indicating that mothers with multiple sets of twins might have higher genetic propensity for twinning associated with earlier age at twin pregnancy. Our findings argue for genomewide association studies for DZ twinning in Nigerians, and may help to develop intervention strategies to overcome infertility/subfertility problems.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"12-17"},"PeriodicalIF":1.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139643009","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":"Comprehensive Multiomics Analysis of Monozygotic Twin Discordant for Double Outlet Right Ventricle","authors":"Zhen Liu, Nana Li, Xiaoyu Pan, Jun Li, Shengli Li, Qintong Li, Ping Li, Ying Deng, Fang Chen, Hui Jiang, Wei Wang, Dezhi Mu, Ping Yu, Jun Zhu","doi":"10.1017/thg.2023.51","DOIUrl":"https://doi.org/10.1017/thg.2023.51","url":null,"abstract":"The objective of this study was to understand and measure epigenetic changes associated with the occurrence of CHDs by utilizing the discordant monozygotic twin model. A unique set of monozygotic twins discordant for double-outlet right ventricles (DORVs) was used for this multiomics study. The cardiac and muscle tissue samples from the twins were subjected to whole genome sequencing, whole genome bisulfite sequencing, RNA-sequencing and liquid chromatography-tandem mass spectrometry analysis. Sporadic DORV cases and control fetuses were used for validation. Global hypomethylation status was observed in heart tissue samples from the affected twins. Among 36,228 differentially methylated regions (DMRs), 1097 DMRs involving 1039 genes were located in promoter regions. A total of 419 genes, and lncRNA–mRNA pairs involved 30 genes, and 62 proteins were significantly differentially expressed. Multiple omics integrative analysis revealed that five genes, including <jats:italic>BGN</jats:italic>, <jats:italic>COL1A1</jats:italic>, <jats:italic>COL3A1</jats:italic>, <jats:italic>FBLN5</jats:italic>, and <jats:italic>FLAN</jats:italic>, and three pathways, including ECM-receptor interaction, focal adhesion and TGF-β signaling pathway, exhibited differences at all three levels. This study demonstrates a multiomics profile of discordant twins and explores the possible mechanism of DORV development. Global hypomethylation might be associated with the risk of CHDs. Specific genes and specific pathways, particularly those involving ECM–receptor interaction, focal adhesion and TGF–β signaling, might be involved in the occurrence of CHDs.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"98 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138687535","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":"National Trends in Suicides and Male Twin Live Births in the US, 2003 to 2019: An Updated Test of Collective Optimism and Selection in Utero","authors":"Parvati Singh, Samantha Gailey, Abhery Das, Tim A. Bruckner","doi":"10.1017/thg.2023.49","DOIUrl":"https://doi.org/10.1017/thg.2023.49","url":null,"abstract":"Prior research based on Swedish data suggests that collective optimism, as measured by monthly incidence of suicides, correlates inversely with <jats:italic>selection in utero</jats:italic> against male twins in a population. We test this finding in the US, which reports the highest suicide rate of all high-income countries, and examine whether monthly changes in overall suicides precede changes in the ratio of male twin to male singleton live births. Consistent with prior work, we also examine as a key independent variable, suicides among women aged 15−49 years. We retrieved monthly data on suicides and the ratio of male twin to singleton live births from CDC WONDER, 2003 to 2019, and applied Box-Jenkins iterative time-series routines to detect and remove autocorrelation from both series. Results indicate that a 1% increase in monthly change in overall suicides precedes a 0.005 unit decline in male twin live births ratio 6 months later (coefficient = −.005, <jats:italic>p</jats:italic> value = .004). Results remain robust to use of suicides among reproductive-aged women as the independent variable (coefficient = −.0012, <jats:italic>p</jats:italic> value = .014). Our study lends external validity to prior research and supports the notion that a decline in collective optimism corresponds with greater selection in utero.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"3 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138687265","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":"Association Between Dysmenorrhea and Risk of Epilepsy in East Asian Populations: A Bidirectional Two-Sample Mendelian Randomization Study","authors":"Yuehan Ren, Junning Zhang, Tong Chen, Jiaqin Chen, Yan Liao, Tingxiu Liu, Liangliang Yang, Chang Liu, Xinmin Liu, Baoqin Liu","doi":"10.1017/thg.2023.48","DOIUrl":"https://doi.org/10.1017/thg.2023.48","url":null,"abstract":"Dysmenorrhea is associated with epilepsy. Existing evidence is mostly limited to observational studies, which are liable to confounding and bias. This study investigated the causal relevance of dysmenorrhea on epilepsy using Mendelian randomization (MR). We extracted instrumental variants for dysmenorrhea and epilepsy from published genomewide association study data, focusing on individuals of East Asian descent. A comprehensive suite of MR estimations and sensitivity analyses was performed to ensure the robustness of the findings. Each outcome database was analyzed separately in both directions. For dysmenorrhea and epilepsy, 7 and 3 genetic variants respectively were selectively extracted as instrumental variants. The results suggest that dysmenorrhea is causally associated with an elevated risk of epilepsy (inverse variance weighted [IVW]: <jats:italic>OR</jats:italic> = 1.26; 95% CI [1.07, 1.47]; <jats:italic>p</jats:italic> = 4.42 × 10<jats:sup>−3</jats:sup>); conversely, no strong evidence was found to corroborate that epilepsy exerts a causal effect on the incidence of dysmenorrhea (IVW: <jats:italic>OR</jats:italic> = 1.04; 95% CI [0.82, 1.33]; <jats:italic>p</jats:italic> = .72). These findings provide novel insights into the causal relationship between dysmenorrhea and epilepsy, which may have implications for clinical decision-making in patients with epilepsy and dysmenorrhea.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"3 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138687261","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":"Beyond Twinship: Unraveling Societal Biases: A Review of Nancy L. Segal, Gay Fathers, Twin Sons: The Citizenship Case That Captured the World","authors":"Hila Segal","doi":"10.1017/thg.2023.39","DOIUrl":"https://doi.org/10.1017/thg.2023.39","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"34 19","pages":""},"PeriodicalIF":0.9,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138603709","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":"Review of <i>The Twin Children of the Holocaust: Stolen Childhood and the Will to Survive</i>, by Nancy L. Segal - CORRIGENDUM.","authors":"Jeffrey M Craig","doi":"10.1017/thg.2023.47","DOIUrl":"https://doi.org/10.1017/thg.2023.47","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1"},"PeriodicalIF":0.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138462891","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}