This study starts with a simple model by which Hardy-Weinberg proportions are attained in a single generation while maintaining gene frequencies. The question of differentiating between random and non-random mating is explored by simulation. Sample mating proportions are generated using the model as base. The difficulty of differentiating between random and non-random mating is illustrated.
{"title":"The Impossible Dream - Panmixia.","authors":"Alan E Stark","doi":"10.1017/thg.2024.6","DOIUrl":"https://doi.org/10.1017/thg.2024.6","url":null,"abstract":"<p><p>This study starts with a simple model by which Hardy-Weinberg proportions are attained in a single generation while maintaining gene frequencies. The question of differentiating between random and non-random mating is explored by simulation. Sample mating proportions are generated using the model as base. The difficulty of differentiating between random and non-random mating is illustrated.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139973718","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}
This study assessed the trends in twin births and their survival in Bangladesh by analyzing over a quarter million live births during 1970-2018, pooled from all eight rounds of the Bangladesh Demographic and Health Survey. In these five decades, the twinning rate increased by 1.5 times, from 5.8 to 8.6 twins per 1000 maternities. The decadal twinning rates varied across maternal age, parity, body mass index, household wealth index, and geographic region. The gap in decadal neonatal, infant, and under-five cumulative survival probability between singleton and multiple births was found to be closing, using Kaplan-Meier curves. Child mortality decreased by 80% and 60% in singleton and multiple births respectively. However, the absolute size of child mortality in multiple births remained six times higher than in singletons and was concentrated in the neonatal period. The share of multiple births surged in all types of child mortality. We predict a further and faster rise in multiple births in the coming decades in the face of upward trends in maternal age overlapping with higher parities, education, career prospects, contraceptive use, and the future demand-supply of assisted reproductive technology. A particular focus on the improvement of perinatal and neonatal care with wider availability is warranted. Otherwise, increased multiple births might raise child mortality and create public health challenges.
{"title":"Trends in Twin Births and Survival in Bangladesh: An Analysis of Half a Century of Evidence.","authors":"Kazi Zubair Hossain, Iftekhar Hasan","doi":"10.1017/thg.2024.5","DOIUrl":"https://doi.org/10.1017/thg.2024.5","url":null,"abstract":"<p><p>This study assessed the trends in twin births and their survival in Bangladesh by analyzing over a quarter million live births during 1970-2018, pooled from all eight rounds of the Bangladesh Demographic and Health Survey. In these five decades, the twinning rate increased by 1.5 times, from 5.8 to 8.6 twins per 1000 maternities. The decadal twinning rates varied across maternal age, parity, body mass index, household wealth index, and geographic region. The gap in decadal neonatal, infant, and under-five cumulative survival probability between singleton and multiple births was found to be closing, using Kaplan-Meier curves. Child mortality decreased by 80% and 60% in singleton and multiple births respectively. However, the absolute size of child mortality in multiple births remained six times higher than in singletons and was concentrated in the neonatal period. The share of multiple births surged in all types of child mortality. We predict a further and faster rise in multiple births in the coming decades in the face of upward trends in maternal age overlapping with higher parities, education, career prospects, contraceptive use, and the future demand-supply of assisted reproductive technology. A particular focus on the improvement of perinatal and neonatal care with wider availability is warranted. Otherwise, increased multiple births might raise child mortality and create public health challenges.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724195","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}
Pub Date : 2024-02-01Epub Date: 2024-05-29DOI: 10.1017/thg.2024.27
{"title":"THG volume 27 issue 1 Cover.","authors":"","doi":"10.1017/thg.2024.27","DOIUrl":"https://doi.org/10.1017/thg.2024.27","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141162642","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}
Pub Date : 2024-02-01Epub Date: 2024-03-18DOI: 10.1017/thg.2024.4
Floris Huider, Yuri Milaneschi, Jouke-Jan Hottenga, Mariska Bot, M Liset Rietman, Almar A L Kok, Tessel E Galesloot, Leen M 't Hart, Femke Rutters, Marieke T Blom, Didi Rhebergen, Marjolein Visser, Ingeborg Brouwer, Edith Feskens, Catharina A Hartman, Albertine J Oldehinkel, Eco J C de Geus, Lambertus A Kiemeney, Martijn Huisman, H Susan J Picavet, W M Monique Verschuren, Hanna M van Loo, Brenda W J H Penninx, Dorret I Boomsma
In this cohort profile article we describe the lifetime major depressive disorder (MDD) database that has been established as part of the BIObanks Netherlands Internet Collaboration (BIONIC). Across the Netherlands we collected data on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) lifetime MDD diagnosis in 132,850 Dutch individuals. Currently, N = 66,684 of these also have genomewide single nucleotide polymorphism (SNP) data. We initiated this project because the complex genetic basis of MDD requires large population-wide studies with uniform in-depth phenotyping. For standardized phenotyping we developed the LIDAS (LIfetime Depression Assessment Survey), which then was used to measure MDD in 11 Dutch cohorts. Data from these cohorts were combined with diagnostic interview depression data from 5 clinical cohorts to create a dataset of N = 29,650 lifetime MDD cases (22%) meeting DSM-5 criteria and 94,300 screened controls. In addition, genomewide genotype data from the cohorts were assembled into a genomewide association study (GWAS) dataset of N = 66,684 Dutch individuals (25.3% cases). Phenotype data include DSM-5-based MDD diagnoses, sociodemographic variables, information on lifestyle and BMI, characteristics of depressive symptoms and episodes, and psychiatric diagnosis and treatment history. We describe the establishment and harmonization of the BIONIC phenotype and GWAS datasets and provide an overview of the available information and sample characteristics. Our next step is the GWAS of lifetime MDD in the Netherlands, with future plans including fine-grained genetic analyses of depression characteristics, international collaborations and multi-omics studies.
{"title":"Genomics Research of Lifetime Depression in the Netherlands: The BIObanks Netherlands Internet Collaboration (BIONIC) Project.","authors":"Floris Huider, Yuri Milaneschi, Jouke-Jan Hottenga, Mariska Bot, M Liset Rietman, Almar A L Kok, Tessel E Galesloot, Leen M 't Hart, Femke Rutters, Marieke T Blom, Didi Rhebergen, Marjolein Visser, Ingeborg Brouwer, Edith Feskens, Catharina A Hartman, Albertine J Oldehinkel, Eco J C de Geus, Lambertus A Kiemeney, Martijn Huisman, H Susan J Picavet, W M Monique Verschuren, Hanna M van Loo, Brenda W J H Penninx, Dorret I Boomsma","doi":"10.1017/thg.2024.4","DOIUrl":"10.1017/thg.2024.4","url":null,"abstract":"<p><p>In this cohort profile article we describe the lifetime major depressive disorder (MDD) database that has been established as part of the BIObanks Netherlands Internet Collaboration (BIONIC). Across the Netherlands we collected data on <i>Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition</i> (<i>DSM-5</i>) lifetime MDD diagnosis in 132,850 Dutch individuals. Currently, <i>N</i> = 66,684 of these also have genomewide single nucleotide polymorphism (SNP) data. We initiated this project because the complex genetic basis of MDD requires large population-wide studies with uniform in-depth phenotyping. For standardized phenotyping we developed the LIDAS (LIfetime Depression Assessment Survey), which then was used to measure MDD in 11 Dutch cohorts. Data from these cohorts were combined with diagnostic interview depression data from 5 clinical cohorts to create a dataset of <i>N</i> = 29,650 lifetime MDD cases (22%) meeting <i>DSM-5</i> criteria and 94,300 screened controls. In addition, genomewide genotype data from the cohorts were assembled into a genomewide association study (GWAS) dataset of <i>N</i> = 66,684 Dutch individuals (25.3% cases). Phenotype data include <i>DSM-5</i>-based MDD diagnoses, sociodemographic variables, information on lifestyle and BMI, characteristics of depressive symptoms and episodes, and psychiatric diagnosis and treatment history. We describe the establishment and harmonization of the BIONIC phenotype and GWAS datasets and provide an overview of the available information and sample characteristics. Our next step is the GWAS of lifetime MDD in the Netherlands, with future plans including fine-grained genetic analyses of depression characteristics, international collaborations and multi-omics studies.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144148","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}
Pub Date : 2024-02-01Epub Date: 2024-03-22DOI: 10.1017/thg.2024.10
Braxton Forde, Samuel Martin, Miki Watanabe-Chailland, Foong-Yen Lim
Fetuses undergo major surgical stress as well as fluid shifts secondary to both twin-twin transfusion (TTTS) as well as the fetoscopic surgery for treatment of TTTS. While the pathophysiology of TTTS is understood, the acute metabolic changes that fetuses experience from fetoscopic surgery are not. We sought to evaluate the changes in recipient metabolomic profile secondary to TTTS surgery. Amniotic fluid was collected at the beginning and end of four TTTS surgical cases performed from 12/2022-2/2023. Samples were immediately processed and evaluated via NMR-based Metabolomics Facility protocol. In univariate analysis, 12 metabolites (glucose, lactate, and 10 key amino acids) showed statistically significant changes between the beginning and end of the surgery. Among these, 11 metabolites decreased at the end, while only lactate increased. Supervised oPLS-DA modeling revealed pyruvate and lactate as the two metabolites most impact on the variance between cases, and that 40% of metabolomic changes could be attributed directly to the timing that the sample was taken (i.e., if pre- or postoperatively). These results indicate significant metabolic changes in the recipient twin during fetoscopic surgery for TTTS. These findings of decreased glucose, increased lactate, and decreased amnio acids would indicate increased catabolism during surgery. This study raises questions regarding optimal maternal and fetal nutrition during surgery and if nutritional status could be optimized to further improve twin survival during fetoscopic surgery.
{"title":"Acute Fetal Metabolomic Changes in Twins Undergoing Fetoscopic Surgery for Twin-Twin Transfusion Syndrome.","authors":"Braxton Forde, Samuel Martin, Miki Watanabe-Chailland, Foong-Yen Lim","doi":"10.1017/thg.2024.10","DOIUrl":"10.1017/thg.2024.10","url":null,"abstract":"<p><p>Fetuses undergo major surgical stress as well as fluid shifts secondary to both twin-twin transfusion (TTTS) as well as the fetoscopic surgery for treatment of TTTS. While the pathophysiology of TTTS is understood, the acute metabolic changes that fetuses experience from fetoscopic surgery are not. We sought to evaluate the changes in recipient metabolomic profile secondary to TTTS surgery. Amniotic fluid was collected at the beginning and end of four TTTS surgical cases performed from 12/2022-2/2023. Samples were immediately processed and evaluated via NMR-based Metabolomics Facility protocol. In univariate analysis, 12 metabolites (glucose, lactate, and 10 key amino acids) showed statistically significant changes between the beginning and end of the surgery. Among these, 11 metabolites decreased at the end, while only lactate increased. Supervised oPLS-DA modeling revealed pyruvate and lactate as the two metabolites most impact on the variance between cases, and that 40% of metabolomic changes could be attributed directly to the timing that the sample was taken (i.e., if pre- or postoperatively). These results indicate significant metabolic changes in the recipient twin during fetoscopic surgery for TTTS. These findings of decreased glucose, increased lactate, and decreased amnio acids would indicate increased catabolism during surgery. This study raises questions regarding optimal maternal and fetal nutrition during surgery and if nutritional status could be optimized to further improve twin survival during fetoscopic surgery.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140185702","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}
Pub Date : 2024-02-01Epub Date: 2024-03-06DOI: 10.1017/thg.2024.8
Davide Piffer, Emil O W Kirkegaard
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.
本研究考察了不同人群中认知指标(教育成就[EA]、智商[IQ])、社会经济地位(SES)和精神状况(自闭症谱系障碍[ASD]、精神分裂症[SCZ])的多基因评分(PGSs)的时间和地理演变。我们的研究结果表明,在过去的 1.2 万年中,EA、IQ 和 SES 特征都是正向选择。精神分裂症和自闭症虽然相似,但表现出不同的时间模式,这与认为它们是心理对立面的理论相一致。我们观察到神经质和抑郁的 PGS 有所下降,这可能是由于它们的遗传相关性和对智力的多效应。从上旧石器时代到新石器时代,PGS 的显著变化表明生活方式和认知需求发生了变化,尤其是在新石器革命时期。该研究支持格雷戈里-克拉克模型的一个温和假设,表明从中世纪到现在,整个欧洲的智力、学术成就和职业地位的遗传倾向明显上升。虽然纬度对身高有很大影响,但它对精神分裂症和自闭症的影响较小,而且各不相同。与寒冷冬季理论相反,研究发现纬度与智力之间没有明显的相关性。
{"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":null,"pages":null},"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}
Pub Date : 2024-02-01Epub Date: 2024-02-21DOI: 10.1017/thg.2024.1
Nancy L Segal
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.
{"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":null,"pages":null},"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}
Pub Date : 2024-02-01Epub Date: 2024-03-06DOI: 10.1017/thg.2024.7
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
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.
由于男性体内睾酮和女性体内雌激素的主要作用,成年后的血液学和生化变量存在性别差异。双生子睾酮转移(TTT)假说认为,异性雌性由于产前睾酮水平相对高于同性雌性,可能会形成男性典型特征。此外,产前睾酮暴露还被认为与当前的循环睾酮水平相关。因此,异性女性的血液学和生化变量可能会表现出男性的典型模式。尽管有这一假设,但常规实验室检查还是为所有女性设定了相同的参考范围。我们的横断面研究于 2022 年 1 月至 9 月在塔马利进行,包括 40 对双胞胎,其中异性(OS)男性 10 对(占 25%),OS 女性 10 对(占 25%),同性(SS)女性 20 对(占 50%),年龄均在 18 岁至 27 岁之间。研究人员采集了空腹静脉血样本,并使用自动血液学和生物化学实验室分析仪进行了分析。结果显示,OS 男性的血红蛋白、血清肌酐、γ-谷氨酰转移酶、总蛋白、球蛋白和总睾酮水平明显高于 OS 女性。相反,OS 女性的总胆固醇和低密度脂蛋白胆固醇明显高于 OS 男性。出乎意料的是,SS 女性的低密度脂蛋白胆固醇和总睾酮水平明显高于 OS 女性。与预期相反,异性女性的血液和生化变量并没有表现出男性的典型模式。这表明,TTT效应可能不会或不足以对 OS 女性的血液和生化变量产生明显影响。
{"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":null,"pages":null},"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}
Pub Date : 2024-02-01Epub Date: 2024-01-31DOI: 10.1017/thg.2024.3
Jie Yao, Feng Ning, Weijing Wang, Dongfeng Zhang
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, p = .0004). The association between BMI and DNAm of 85 CpGs reached p < 1×10-4 level. Eleven BMI-related differentially methylated regions (DMRs) within LNCPRESS1, OGDHL, RNU1-44P, NPHS1, ECEL1P2, LLGL2, RNY4P15, MOGAT3, PHACTR3, and BAI2 were found. Of the 85 CpGs, 9 mapped to C10orf71-AS1, NDUFB5P1, KRT80, BAI2, ABCA2, PEX11G and FGF4 were significantly associated with SBP levels. Of the 9 CpGs, 2 within ABCA2 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, p = .0495). The association between BMI and DNAm of 193 CpGs reached p < 1×10-4 level. Twenty-five BMI-related DMRs within OGDHL, POU4F2, ECEL1P2, TTC6, SMPD4, EP400, TUBA1C and AGAP2 were found. Of the 193 CpGs, 33 mapped to ABCA2, ADORA2B, CTNNBIP1, KDM4B, NAA60, RSPH6A, SLC25A19 and STIL were significantly associated with DBP levels. Of the 33 CpGs, 12 within ABCA2, SLC25A19, KDM4B, PTPRN2, DNASE1, TFCP2L1, LMNB2 and C10orf71-AS1 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.
{"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<sup>-4</sup> 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<sup>-4</sup> 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":null,"pages":null},"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}
Familial twinning and fertility traits were investigated in Nigerian mothers of dizygotic (DZ) twins (MoDZT; N = 972) and controls (N = 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 (N = 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.
{"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":null,"pages":null},"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}