Twin Research and Human Genetics最新文献_第7页

C. C. Li and Quasi-Random Mating. 李正昌与准随机交配。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-09-14 DOI: 10.1017/thg.2023.37

Alan E Stark

引用次数: 0

Mitochondrial DNA Copy Number and Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia. 精神分裂症同卵双胞胎线粒体DNA拷贝数与异质性差异。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-09-01 DOI: 10.1017/thg.2023.34

Phyo W Win, Shiva M Singh, Christina A Castellani

{"title":"Mitochondrial DNA Copy Number and Heteroplasmy in Monozygotic Twins Discordant for Schizophrenia.","authors":"Phyo W Win, Shiva M Singh, Christina A Castellani","doi":"10.1017/thg.2023.34","DOIUrl":"https://doi.org/10.1017/thg.2023.34","url":null,"abstract":"Schizophrenia (SZ) is a severe, complex, and common mental disorder with high heritability (80%), an adult age of onset, and high discordance (∼50%) in monozygotic twins (MZ). Extensive studies on familial and non-familial cases have implicated a number of segregating mutations and de novo changes in SZ that may include changes to the mitochondrial genome. Yet, no single universally causal variant has been identified, highlighting its extensive genetic heterogeneity. This report specifically focuses on the assessment of changes in the mitochondrial genome in a unique set of monozygotic twins discordant (MZD) for SZ using blood. Genomic DNA from six pairs of MZD twins and two sets of parents (N = 16) was hybridized to the Affymetrix Human SNP Array 6.0 to assess mitochondrial DNA copy number (mtDNA-CN). Whole genome sequencing (WGS) and quantitative polymerase chain reaction (qPCR) was performed for a subset of MZD pairs and their parents and was also used to derive mtDNA-CN estimates. The WGS data were further analyzed to generate heteroplasmy (HP) estimates. Our results show that mtDNA-CN estimates for within-pair and mother-child differences were smaller than comparisons involving unrelated individuals, as expected. MZD twins showed discordance in mtDNA-CN estimates and displayed concordance in directionality of differences for mtDNA-CN across all technologies. Further, qPCR performed better than Affymetrix in estimating mtDNA-CN based on relatedness. No reliable differences in HP were detected between MZD twins. The within-MZD differences in mtDNA-CN observed represent postzygotic somatic changes that may contribute to discordance of MZ twins for diseases, including SZ.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-10"},"PeriodicalIF":0.9,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10502525","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}

引用次数: 0

The Co-Twin Control Design: Implementation and Methodological Considerations. 双生控制设计:实施和方法学考虑。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-09-01 DOI: 10.1017/thg.2023.35

Bodine M A Gonggrijp, Steve G A van de Weijer, Catrien C J H Bijleveld, Jenny van Dongen, Dorret I Boomsma

引用次数: 0

Maternal and Neonatal Outcomes of Twin Pregnant Women With Anemia. 双胎孕妇贫血的孕产妇和新生儿结局。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-08-31 DOI: 10.1017/thg.2023.33

Nacheng Lin, Ping Shen, Huilian Hu, Wenying Song, Yali Hu, Yimin Dai, Yi-Hua Zhou

{"title":"Maternal and Neonatal Outcomes of Twin Pregnant Women With Anemia.","authors":"Nacheng Lin, Ping Shen, Huilian Hu, Wenying Song, Yali Hu, Yimin Dai, Yi-Hua Zhou","doi":"10.1017/thg.2023.33","DOIUrl":"https://doi.org/10.1017/thg.2023.33","url":null,"abstract":"The aim of this study was to investigate the prevalence of anemia in twin pregnancies and the influence of anemia on maternal and neonatal outcomes. This retrospective study included twin pregnant women who delivered in a tertiary hospital in China from January 2018 to December 2018. Patients were divided by WHO criteria (hemoglobin <11.0 g/dL): the anemic and nonanemic groups. Patients with anemia were further classified as recovered or unrecovered subgroup after oral iron therapy. Maternal and neonatal outcomes in women carrying twins were compared using Student's t test and the chi-squared test or the Fisher exact test. Univariable and multivariable logistic regression models were used to determine the association of maternal and neonatal characteristics with anemia. Linear regression analysis was used to estimate mean birth weight and gestational week. The prevalence of anemia was 42.6% (182/427) in twin pregnancies. The anemic group had higher rates of low 1-minute Apgar score (4.4% vs. 1.8%, p = .028), perinatal death (1.9% vs. 0.2%, p = .012) and neonatal intensive care unit (NICU) admission (27.2% vs. 20.2%, p = .017; adjusted OR, 1.478; 95% CI [1.07, 2.044]). The recovered subgroup had lower NICU admission rate (13.5% vs. 30.3%, p = .006; OR, 0.388; 95% CI [0.186, 0.809]), higher gestational week and birth weight (β, 0.954 week; 95% CI [0.114, 1.794] and β, 171.01 g; 95% CI [9.894, 332.126] respectively). The prevalence of anemia in twin gestation is high. Anemia is associated with adverse neonatal outcomes, and correction of anemia significantly improved the pregnancy outcomes.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":0.9,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10121332","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}

引用次数: 0

The 18th International Twin Congress, and a Look at Twin Research in Wales/Twin Research Reviews: Temperamental Similarities and Twin Relations; Maximizing Twin Designs; Rare Tubal Ectopic Pregnancy; Twins' Academic Self-Concept Formation/In the Media: Identical Infant Twins Reunited; Birth of Identical-Fraternal Quadruplets; Identical Twin Comedians; 'Twice in a Lifetime': Meeting an Unrelated Look-Alike; Twins in the Tour de France. 第18届国际双胞胎大会，以及对威尔士双胞胎研究的展望/双胞胎研究评论:气质相似性和双胞胎关系;最大化孪生设计;罕见输卵管异位妊娠;双胞胎学术自我概念的形成/媒体:同卵婴儿双胞胎的团聚同卵异卵四胞胎的诞生;同卵双胞胎喜剧演员;“一生两次”:遇到一个毫无关系的相似者;双胞胎参加环法自行车赛。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-08-29 DOI: 10.1017/thg.2023.31

Nancy L Segal

{"title":"The 18th International Twin Congress, and a Look at Twin Research in Wales/Twin Research Reviews: Temperamental Similarities and Twin Relations; Maximizing Twin Designs; Rare Tubal Ectopic Pregnancy; Twins' Academic Self-Concept Formation/In the Media: Identical Infant Twins Reunited; Birth of Identical-Fraternal Quadruplets; Identical Twin Comedians; 'Twice in a Lifetime': Meeting an Unrelated Look-Alike; Twins in the Tour de France.","authors":"Nancy L Segal","doi":"10.1017/thg.2023.31","DOIUrl":"https://doi.org/10.1017/thg.2023.31","url":null,"abstract":"The 18th International Society for Twin Studies convention took place between June 15-17, 2023, in Budapest, Hungary. A selective sampling of highlights from the meeting are presented. This is followed by a brief overview of ongoing twin research at the University of Aberystwyth in Wales and some twin treasures in the National Library. Next, reviews of timely research that examine temperamental similarities and twin relations, the maximization of twin research designs, a rare ectopic twin pregnancy, and twins' academic self-concept formation are presented. The final section covers stories appearing in various media sources that are informative, enlightening, and interesting, namely a reunion of identical infant twins, the birth of identical-fraternal quadruplets, identical twin comedians, meeting an unrelated look-alike, and twins in the Tour de France.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-6"},"PeriodicalIF":0.9,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10466741","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}

引用次数: 0

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia - CORRIGENDUM. 澳大利亚人类遗传学会立场声明:基因检测和个人保险产品在澳大利亚-勘误表。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-08-29 DOI: 10.1017/thg.2023.36

Aideen M McInerney-Leo, Samantha Ayres, Jackie Boyle, Chris Jacobs, Ainsley J Newson

引用次数: 0

THG volume 26 issue 4-5 Cover THG 第 26 卷第 4-5 期封面

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-08-01 DOI: 10.1017/thg.2023.50

引用次数: 0

THG volume 26 issue 6 Cover THG 第 26 卷第 6 期封面

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-08-01 DOI: 10.1017/thg.2023.52

引用次数: 0

Candidate Genes for Prediction of Efficacy and Safety of Statin Therapy in the Kazakh Population. 预测他汀类药物治疗在哈萨克人群中的有效性和安全性的候选基因。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-07-25 DOI: 10.1017/thg.2023.28

Raikhan Y Tuleutayeva, Assem R Makhatova, Saule O Rakhyzhanova, Lashyn K Zhazykbayeva, Dana K Kozhakhmetova

{"title":"Candidate Genes for Prediction of Efficacy and Safety of Statin Therapy in the Kazakh Population.","authors":"Raikhan Y Tuleutayeva, Assem R Makhatova, Saule O Rakhyzhanova, Lashyn K Zhazykbayeva, Dana K Kozhakhmetova","doi":"10.1017/thg.2023.28","DOIUrl":"https://doi.org/10.1017/thg.2023.28","url":null,"abstract":"The purpose of this research was to determine the frequency of mutation of the cytochrome CYP3A5 genes and transport proteins SLCO1B1 and MDR1 in patients with coronary heart disease in the Kazakh nation. A prospective cohort clinical and genetic study was conducted. The study was conducted in 2017-2019. Medical records containing information about drug prescription conducted in hospitals and outpatient departments were carefully analyzed. In the examined group of 178 patients treated with statins, a significant frequency of genetic variants that determine the increased risk of complications of statin use was revealed. There was a tendency toward an increase in the activity of creatine phosphokinase (CPK) in the blood upon detection of the A6986G mutation of the cytochrome gene and SLCO1B1 (c.521T>C) gene of the transport protein OATP1B1. In the studied Kazakh population, the presence of a homozygous mutant SLCO1B1 gene of the transport protein can be recommended as a genetic marker for the undesirability of using antihypercholesterolemic therapy with statins, which simultaneously leads to a decrease in the effectiveness of treatment and an increase in the risk of side effects.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":0.9,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9865440","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}

引用次数: 0

Early Spontaneous Twinning Recorded By Time-Lapse. 早期自发孪晶记录的时间推移。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-06-01 Epub Date: 2023-09-01 DOI: 10.1017/thg.2023.24

Roberto Matorras, Alberto Vendrell, Marcos Ferrando, Zaloa Larreategui

{"title":"Early Spontaneous Twinning Recorded By Time-Lapse.","authors":"Roberto Matorras, Alberto Vendrell, Marcos Ferrando, Zaloa Larreategui","doi":"10.1017/thg.2023.24","DOIUrl":"10.1017/thg.2023.24","url":null,"abstract":"Monozygotic twins (MZT) are 2.5 times more frequent in ART than in natural conceptions. A number of ART-related mechanisms have been probably linked with MZT. Studies that retrospectively analyze the time-lapse (TL) records resulting in MZT suggest that some morphokinetic traits of the inner cell mass and the trophectoderm could be predictors of MZT, but results are controversial. We present the complete TL record of one case of MZT that split itself at the very moment of the division into two cells, with one of the cells coming out through a hole in the zona pellucida (ZP). Both resulting embryos developed normally, and were vitrified. It is suggested that the hole in the ZP may facilitate the extrusion of some cells of the <day 4 embryo and that this cell development is not constrained by being inside the ZP. Despite the lack of the inhibition of the ZP itself or the influence of the other embryo cells, the totipotent cell was then able to develop correctly from the start. Moreover, the embryo inside the ZP compensated for the loss of this cell apparently without problems. Our findings are discussed in the context of previous literature and ethical problems are addressed.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"26 3","pages":"215-218"},"PeriodicalIF":0.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227299","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}

引用次数: 0