{"title":"Quadruplets: Risks, Outcomes and a Set of Four/Twin Research Reviews and a Lawsuit: Antenatal Corticosteroids and Twins' Neonatal Outcomes; Fathers of Twins; Doppelgängers and Similarity; Monozygotic Co-Twin Difference in Asymmetric Pigmented Paravenous Chorioretinal Atrophy/In the News: Opposite-Sex Twin Holocaust Survivors; Twin Models at Gucci; Twins With Different Fathers; Reunited Twins Enter Same Convent; Death of a Twin Soldier During Training; Surgical Separation of Conjoined Twins.","authors":"Nancy L Segal","doi":"10.1017/thg.2022.41","DOIUrl":"https://doi.org/10.1017/thg.2022.41","url":null,"abstract":"<p><p>Quadruplets are at elevated physical risks at prenatal, perinatal, and postnatal levels, relative to twins. A brief review of this area is followed by discussion of a female quadruplet with three co-quadruplet brothers. Next, several timely twin research reports are examined. The topics include antenatal corticosteroids and twins' neonatal outcomes, the meaning of fatherhood in families with twins, what doppelgängers (look-alikes) reveal about physical and behavioral similarity, and monozygotic (MZ) co-twin discordance for asymmetric pigmented paravenous chorioretinal atrophy. A lawsuit involving alleged cheating on a medical school examination by identical twins is also reviewed. General interest stories cover opposite-sex twin Holocaust survivors, twin models at a Gucci fashion show, twins with different fathers, reunited female twins who entered the same convent, the death of an MZ female twin soldier during training, and the surgical separation of conjoined twins in Brazil.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 6","pages":"251-256"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10730826","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}
Ji Ke, Wenjing Gao, Biqi Wang, Weihua Cao, Jun Lv, Canqing Yu, Tao Huang, Dianjianyi Sun, Chunxiao Liao, Yuanjie Pang, Zengchang Pang, Liming Cong, Hua Wang, Xianping Wu, Yu Liu, Liming Li
{"title":"Exploring the Genetic Association between Obesity and Serum Lipid Levels Using Bivariate Methods.","authors":"Ji Ke, Wenjing Gao, Biqi Wang, Weihua Cao, Jun Lv, Canqing Yu, Tao Huang, Dianjianyi Sun, Chunxiao Liao, Yuanjie Pang, Zengchang Pang, Liming Cong, Hua Wang, Xianping Wu, Yu Liu, Liming Li","doi":"10.1017/thg.2022.39","DOIUrl":"https://doi.org/10.1017/thg.2022.39","url":null,"abstract":"<p><p>It is crucial to understand the genetic mechanisms and biological pathways underlying the relationship between obesity and serum lipid levels. Structural equation models (SEMs) were constructed to calculate heritability for body mass index (BMI), total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and the genetic connections between BMI and the four classes of lipids using 1197 pairs of twins from the Chinese National Twin Registry (CNTR). Bivariate genomewide association studies (GWAS) were performed to identify genetic variants associated with BMI and lipids using the records of 457 individuals, and the results were further validated in 289 individuals. The genetic background affecting BMI may differ by gender, and the heritability of males and females was 71% (95% CI [.66, .75]) and 39% (95% CI [.15, .71]) respectively. BMI was positively correlated with TC, TG and LDL-C in phenotypic and genetic correlation, while negatively correlated with HDL-C. There were gender differences in the correlation between BMI and lipids. Bivariate GWAS analysis and validation stage found 7 genes (<i>LOC105378740</i>, <i>LINC02506</i>, <i>CSMD1</i>, <i>MELK</i>, <i>FAM81A</i>, <i>ERAL1</i> and <i>MIR144</i>) that were possibly related to BMI and lipid levels. The significant biological pathways were the regulation of cholesterol reverse transport and the regulation of high-density lipoprotein particle clearance (<i>p</i> < .001). BMI and blood lipid levels were affected by genetic factors, and they were genetically correlated. There might be gender differences in their genetic correlation. Bivariate GWAS analysis found MIR144 gene and its related biological pathways may influence obesity and lipid levels.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 6","pages":"234-244"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10786767","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}
K. Day, Alan J. McCubbin, C. Murgia, M. Southey, Justin C. Brown, H. Truby
{"title":"Transcriptomic Differences Between Monozygotic Adolescent Twins Discordant For Metabolic Syndrome Following Weight Loss: A Case Study","authors":"K. Day, Alan J. McCubbin, C. Murgia, M. Southey, Justin C. Brown, H. Truby","doi":"10.1017/thg.2022.34","DOIUrl":"https://doi.org/10.1017/thg.2022.34","url":null,"abstract":"Abstract This case reports peripheral blood mononuclear cell (PBMC) transcriptomic changes in a pair of male monozygotic pediatric twins with metabolic syndrome (MetS) undertaking assisted weight loss. These 14-year-old boys presented with similar baseline biochemistry and body composition. After a 16-week weight-loss intervention, percent body weight loss was similar (Twin A 12%, and Twin B 13%). MetS resolved in Twin A but Twin B maintained elevated triglycerides after weight loss. Analysis of the PBMC transcriptome before and after weight loss revealed very different changes in gene expression including differences in the direction of expression of genes related to immune cell activation. 48.7% of genes that were downregulated in Twin A were upregulated in Twin B. This case highlights a novel approach to report the influence of chronic low-grade inflammation and metabolic dysfunction on the PBMC transcriptome. It explores whether expression of genes related to immune functions may underlie the differences in response to weight loss or whether transcriptomic alterations in immune cells may precede more traditional biomarkers of chronic pro-inflammation. These monozygotic twins present an example of divergence of phenotypic outcomes despite identical genetic background and similar treatment response.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 1","pages":"196 - 201"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44314386","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}
Christal N Davis, Ian R Gizer, Lucía Colodro-Conde, Dixie J Statham, Nicholas G Martin, Wendy S Slutske
{"title":"Educational Attainment Polygenic Scores: Examining Evidence for Gene-Environment Interplay with Adolescent Alcohol, Tobacco and Cannabis Use.","authors":"Christal N Davis, Ian R Gizer, Lucía Colodro-Conde, Dixie J Statham, Nicholas G Martin, Wendy S Slutske","doi":"10.1017/thg.2022.33","DOIUrl":"10.1017/thg.2022.33","url":null,"abstract":"<p><p>Genes associated with educational attainment may be related to or interact with adolescent alcohol, tobacco and cannabis use. Potential gene-environment interplay between educational attainment polygenic scores (EA-PGS) and adolescent alcohol, tobacco, and cannabis use was evaluated with a series of regression models fitted to data from a sample of 1871 adult Australian twins. All models controlled for age, age<sup>2</sup>, cohort, sex and genetic ancestry as fixed effects, and a genetic relatedness matrix was included as a random effect. Although there was no evidence that adolescent alcohol, tobacco or cannabis use interacted with EA-PGS to influence educational attainment, there was a significant, positive gene-environment correlation with adolescent alcohol use at all PGS thresholds (<i>p</i>s <.02). Higher EA-PGS were associated with an increased likelihood of using alcohol as an adolescent (Δ<i>R</i><sup>2</sup> ranged from 0.5% to 1.1%). The positive gene-environment correlation suggests a complex relationship between educational attainment and alcohol use that is due to common genetic factors.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 4-5","pages":"187-195"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10410203","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}
Hannes F Bode, Aino Heikkinen, Sara Lundgren, Jaakko Kaprio, Miina Ollikainen
{"title":"Differences in DNA Methylation-Based Age Prediction Within Twin Pairs Discordant for Cancer.","authors":"Hannes F Bode, Aino Heikkinen, Sara Lundgren, Jaakko Kaprio, Miina Ollikainen","doi":"10.1017/thg.2022.32","DOIUrl":"https://doi.org/10.1017/thg.2022.32","url":null,"abstract":"<p><p>DNA methylation-based age acceleration (DNAmAA) is associated with cancer, with both cancer tissue and blood showing increased DNAmAA. We aimed to investigate whether DNAmAA is associated with cancer risk within twin pairs discordant for cancer, and whether DNAmAA has the potential to serve as a biomarker for such. The study included 47 monozygotic and 48 same-sex-dizygotic cancer-discordant twin pairs from the Finnish Twin Cohort study with blood samples available between 17 and 31 years after the cancer diagnosis. We studied all cancers (95 pairs), then separately breast cancer (24 pairs) and all sites other than breast cancer (71 pairs). DNAmAA was calculated for seven models: Horvath, Horvath intrinsic epigenetic age acceleration, Hannum, Hannum intrinsic epigenetic age acceleration, Hannum extrinsic epigenetic age acceleration, PhenoAge and GrimAge. Within-pair differences in DNAmAA were analyzed by paired <i>t</i> tests and linear regression. Twin pairs sampled before cancer diagnosis did not differ significantly in DNAmAA. However, the within-pair differences in DNAmAA before cancer diagnosis increased significantly the closer the cancer diagnosis was, and this acceleration extended for years after the diagnosis. Pairs sampled after the diagnosis differed for DNAmAA with the Horvath models capturing cancer diagnosis-associated DNAmAA across all three cancer groupings. The results suggest that DNAmAA in blood is associated with cancer diagnosis. This may be due to epigenetic alterations in relation to cancer, its treatment or associated lifestyle changes. Based on the current study, the biomarker potential of DNAmAA in blood appears to be limited.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 4-5","pages":"171-179"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10410582","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}
Dulari K Jayarathna, Miguel E Rentería, Pik Fang Kho, Jyotsna Batra, Neha S Gandhi
{"title":"Dehydroepiandrosterone Sulfate and Colorectal Cancer Risk: A Mendelian Randomization Analysis.","authors":"Dulari K Jayarathna, Miguel E Rentería, Pik Fang Kho, Jyotsna Batra, Neha S Gandhi","doi":"10.1017/thg.2022.31","DOIUrl":"https://doi.org/10.1017/thg.2022.31","url":null,"abstract":"<p><p>Colorectal cancer is the third most common and second most deadly type of cancer worldwide, with approximately 1.9 million cases and 0.9 million deaths worldwide in 2020. Previous studies have shown that estrogen and testosterone hormones are associated with colorectal cancer risk and mortality. However, the potential effect of their precursor, dehydroepiandrosterone sulfate (DHEAS), on colorectal cancer risk has not been investigated. Therefore, evaluating DHEAS's effect on colorectal cancer will expand our understanding of the hormonal contribution to colorectal cancer risk. In this study, we conducted a two-sample Mendelian randomization (MR) analysis to investigate the causal effect of DHEAS on colorectal cancer. We obtained DHEAS and colorectal cancer genomewide association study (GWAS) summary statistics from the Leipzig Health Atlas and the GWAS catalog and conducted MR analyses using the TwoSampleMR R package. Our results suggest that higher DHEAS levels are causally associated with decreased colorectal cancer risk (odds ratio per unit increase in DHEAS levels <i>z</i> score = 0.70; 95% confidence interval [0.51, 0.96]), which is in line with previous observations in a case-control study of colon cancer. The outcome of this study will be beneficial in developing plasma DHEAS-based biomarkers in colorectal cancer. Further studies should be conducted to interpret the DHEAS-colorectal cancer association among different ancestries and populations.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 4-5","pages":"180-186"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10402118","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}
Chengjun Liu, Ketong Su, Gensheng Liu, Wei Shang, Xuefang Wang, Chunjin Li, Lu Chen, Xu Zhou
{"title":"The Impact of Assisted Hatching on Monozygotic Twinning is Related to Female Age and Insemination Method: A New Perspective.","authors":"Chengjun Liu, Ketong Su, Gensheng Liu, Wei Shang, Xuefang Wang, Chunjin Li, Lu Chen, Xu Zhou","doi":"10.1017/thg.2022.27","DOIUrl":"https://doi.org/10.1017/thg.2022.27","url":null,"abstract":"<p><p>Whether assisted hatching (AH) is associated with a higher incidence of monozygotic twinning (MZT) in women undergoing assisted reproductive technology remains controversial; the aim of the study was to demonstrate the relationship between AH and MZT. A total of 8900 clinical pregnancies were selected among embryo transfer cycles from January 2011 to October 2019. Women receiving day (D) 3 embryos were divided into groups A-C: group A (<i>n</i> = 1651) and group B (<i>n</i> = 1045) included women aged ≤37 or ≥38 years, respectively, with zona pellucida (ZP) thinning; group C (<i>n</i> = 3865) included women aged ≤37 years without AH. Women aged ≤37 years who underwent blastocyst transfer and/or blastocyst ZP breaching were included in group D (<i>n</i> = 2339). The incidence of MZT was compared among groups A, B and C, and between groups C and D. The incidence of MZT in group B (2.2%) was significantly higher than in group A (1.0%), especially following intracytoplasmic sperm injection (ICSI), while the incidence of MZT in group A (1.0%) was significantly lower than in group C (2.2%). The MZT rate with in vitro fertilization was higher in group D (2.8%) than in group C (2.2%), but the MZT rate following ICSI was not significantly different between the two groups. ZP thinning of D3 embryos may increase the risk of MZT in older women (≥38 years), but decrease it in younger women (≤37 years). ZP breaching may be useful to reduce the incidence of MZT in ICSI-generated blastocysts.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 4-5","pages":"202-205"},"PeriodicalIF":0.9,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10410188","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":"Trends in Dizygotic and Monozygotic Spontaneous Twin Births During the Period 2007-2017 in Lombardy, Northern Italy: A Population-Based Study.","authors":"Giovanna Esposito, Michela Dalmartello, Matteo Franchi, Paola Agnese Mauri, Sonia Cipriani, Giovanni Corrao, Fabio Parazzini","doi":"10.1017/thg.2022.19","DOIUrl":"https://doi.org/10.1017/thg.2022.19","url":null,"abstract":"<p><p>In this study, we analyzed the estimated frequency of monozygotic (MZ) and dizygotic (DZ) spontaneous twins in Lombardy during the period 2007-2017. This is a population-based study using the regional healthcare utilization databases of the Lombardy Region. The total number of spontaneous twin deliveries, in separate strata of like and unlike sex, was obtained. Moreover, estimates of DZ and MZ twin births were calculated using Weinberg's method. The standardized rates (SRs), adjusted for maternal age, of DZ and MZ twin births were computed according to calendar period. The twinning rates were calculated among strata of parity and maternal age. Finally, DZ:MZ ratio was calculated. Among the 734,278 spontaneous deliveries, 9176 (12.5 out of 1000 births) couples of twins were identified. In the three periods considered (i.e. 2007-2010, 2011-2014 and 2015-2017), no trend in the SRs of MZ twins was observed, respectively 0.41 (95% CI [0.40, 0.43]), 0.43 (95% CI [0.42, 0.45]) and 0.43 (95% CI[0.42, 0.45]). Differently, a slightly decreasing trend was observed in DZ twins SRs, respectively 0.87 (95% CI [0.84, 0.89]), 0.81 (95% CI [0.79, 0.83]), and 0.78 (95% CI [0.76, 0.80]). As concerns parity and maternal age, the rate of DZ twin births was consistently higher in nulliparae women aged 35 years or more. In our cohort, despite the increase of maternal age, a decline of spontaneous twin births emerged, especially due to the downward trend of DZ twins.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 3","pages":"149-155"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40408418","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":"Reared-Apart and Reunited: Extraordinary Dynamics/Twin Research Reviews: Twin Bereavement and Lifespan Associations; Identifying Novel Mutations in Twins; Parenting Premature Multiples; Conjoined Twins in Cross-Cultural Context/In the News: Madeline Albright, Mother of Twins, Passes Away; Identical Twin Songwriters Compose New Musical; Visually Impaired Twin Skiers; Identical Twin Brothers Undergo Heart Transplants; Naming the Genain Quadruplets.","authors":"Nancy L Segal","doi":"10.1017/thg.2022.21","DOIUrl":"https://doi.org/10.1017/thg.2022.21","url":null,"abstract":"<p><p>The focus of this article is on insights gained from the extraordinary dynamics that took place between a pair of reunited monozygotic female twins from Greece. Topics include visualizing the co-twin prior to meeting, the unique love and attraction between the twins, a mother's response to discovering her child's cotwin and the challenges posed by insufficient kinship categories. The following section of this article surveys four recent twin research reports. They include Bereavement and Lifespan Associations; Novel Mutations in Twins; Parenting Premature Multiples; and Conjoined Twins. The final part of this article presents interesting and informative news about twins from popular sources. The topics covered are the passing of Madeline Albright (Secretary of State and mother of twins); identical twin songwriters; visually impaired twin and sibling skiiers; identical twin brothers who both received heart transplants; and the naming of the Genain quadruplets.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 3","pages":"165-170"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40403028","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 25 issue 3 Cover and Front matter.","authors":"","doi":"10.1017/thg.2022.28","DOIUrl":"https://doi.org/10.1017/thg.2022.28","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 3","pages":"f1-f3"},"PeriodicalIF":0.9,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40352271","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}