Twin Research and Human Genetics最新文献_第9页

Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research. 国家儿童发展研究中的纵向阅读测量和基因组归算:未来阅读研究的展望。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 DOI: 10.1017/thg.2023.2

Elinor C Bridges, N William Rayner, Hayley S Mountford, Timothy C Bates, Michelle Luciano

{"title":"Longitudinal Reading Measures and Genome Imputation in the National Child Development Study: Prospects for Future Reading Research.","authors":"Elinor C Bridges, N William Rayner, Hayley S Mountford, Timothy C Bates, Michelle Luciano","doi":"10.1017/thg.2023.2","DOIUrl":"https://doi.org/10.1017/thg.2023.2","url":null,"abstract":"Reading difficulties are prevalent worldwide, including in economically developed countries, and are associated with low academic achievement and unemployment. Longitudinal studies have identified several early childhood predictors of reading ability, but studies frequently lack genotype data that would enable testing of predictors with heritable influences. The National Child Development Study (NCDS) is a UK birth cohort study containing direct reading skill variables at every data collection wave from age 7 years through to adulthood with a subsample (final n = 6431) for whom modern genotype data are available. It is one of the longest running UK cohort studies for which genotyped data are currently available and is a rich dataset with excellent potential for future phenotypic and gene-by-environment interaction studies in reading. Here, we carry out imputation of the genotype data to the Haplotype Reference Panel, an updated reference panel that offers greater imputation quality. Guiding phenotype choice, we report a principal components analysis of nine reading variables, yielding a composite measure of reading ability in the genotyped sample. We include recommendations for use of composite scores and the most reliable variables for use during childhood when conducting longitudinal, genetically sensitive analyses of reading ability.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"26 1","pages":"10-20"},"PeriodicalIF":0.9,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9785488","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: Use of Polygenic Scores in Clinical Practice and Population Health. 澳大拉西亚人类遗传学会立场声明：在临床实践和人口健康中使用多基因评分。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 Epub Date: 2023-03-23 DOI: 10.1017/thg.2023.10

Mary-Anne Young, Tatiane Yanes, Anne E Cust, Kate Dunlop, Sharne Limb, Ainsley J Newson, Rebecca Purvis, Lavvina Thiyagarajan, Rodney J Scott, Kunal Verma, Paul A James, Julia Steinberg

{"title":"Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.","authors":"Mary-Anne Young, Tatiane Yanes, Anne E Cust, Kate Dunlop, Sharne Limb, Ainsley J Newson, Rebecca Purvis, Lavvina Thiyagarajan, Rodney J Scott, Kunal Verma, Paul A James, Julia Steinberg","doi":"10.1017/thg.2023.10","DOIUrl":"10.1017/thg.2023.10","url":null,"abstract":"Considerable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health. The statement details how PGS are calculated, highlights their breadth of possible application, and examines their current challenges and limitations. We consider fundamental lessons from Mendelian genetics and their continuing relevance to PGS, while also acknowledging the distinct elements of PGS. Use of PGS in practice should be evidence based, and the evidence for the associated benefit, while rapidly emerging, remains limited. Given that clinicians and consumers can already order PGS, their current limitations and key issues warrant consideration. PGS can be developed for most complex conditions and traits and can be used across multiple clinical settings and for population health. The HGSA's view is that further evaluation, including regulatory, implementation and health system evaluation are required before PGS can be routinely implemented in the Australasian healthcare system.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"26 1","pages":"40-48"},"PeriodicalIF":0.9,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9779907","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

A Markov Chain Model for the Evolution of Sex Ratio. 性别比例演变的马尔可夫链模型。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 Epub Date: 2023-03-21 DOI: 10.1017/thg.2023.9

Alan E Stark, Eugene Seneta

引用次数: 0

Nature, Nurture, and the Meaning of Educational Attainment: Differences by Sex and Socioeconomic Status. 自然、养育和教育成就的意义：性别和社会经济地位的差异。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 Epub Date: 2023-03-13 DOI: 10.1017/thg.2023.6

Thalida Em Arpawong, Margaret Gatz, Catalina Zavala, Tara L Gruenewald, Ellen E Walters, Carol A Prescott

{"title":"Nature, Nurture, and the Meaning of Educational Attainment: Differences by Sex and Socioeconomic Status.","authors":"Thalida Em Arpawong, Margaret Gatz, Catalina Zavala, Tara L Gruenewald, Ellen E Walters, Carol A Prescott","doi":"10.1017/thg.2023.6","DOIUrl":"10.1017/thg.2023.6","url":null,"abstract":"Estimated heritability of educational attainment (EA) varies widely, from 23% to 80%, with growing evidence suggesting the degree to which genetic variation contributes to individual differences in EA is highly dependent upon situational factors. We aimed to decompose EA into influences attributable to genetic propensity and to environmental context and their interplay, while considering influences of rearing household economic status (HES) and sex. We use the Project Talent Twin and Sibling Study, drawn from the population-representative cohort of high school students assessed in 1960 and followed through 2014, to ages 68-72. Data from 3552 twins and siblings from 1741 families were analyzed using multilevel regression and multiple group structural equation models. Individuals from less-advantaged backgrounds had lower EA and less variation. Genetic variance accounted for 51% of the total variance, but within women and men, 40% and 58% of the total variance respectively. Men had stable genetic variance on EA across all HES strata, whereas high HES women showed the same level of genetic influence as men, and lower HES women had constrained genetic influence on EA. Unexpectedly, middle HES women showed the largest constraints in genetic influence on EA. Shared family environment appears to make an outsized contribution to greater variability for women in this middle stratum and whether they pursue more EA. Implications are that without considering early life opportunity, genetic studies on education may mischaracterize sex differences because education reflects different degrees of genetic and environmental influences for women and men.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"26 1","pages":"1-9"},"PeriodicalIF":0.9,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10601668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From the Library of the Late Irving I. Gottesman: Memories and Treasures/Twin Research Reviews: Twin Study of Callous-Unemotional Traits; Depressive Symptoms in Prospective Chinese Twin Mothers; Twins With Sagittal Suture Craniosynostosis; Creative Expressiveness and Educational Achievement/Media Reports: Male-Female Twin Holocaust Survivors; Nontuplets Born in Mali; Indian Twins Marry Same Man; Twins Born From Longest-Frozen Embryos; Infant Twin Abduction; Twins Born in Different Years. 来自已故欧文-I-戈特曼图书馆：记忆与财富/双胞胎研究综述：胼胝体-非情感特质的双胞胎研究；前瞻性中国双胞胎母亲的抑郁症状；矢状缝颅骨发育不良的双胞胎；创造性表现力和教育成就/媒体报道：男女双胞胎大屠杀幸存者；马里出生的非孪生姐妹；印度双胞胎与同一男子结婚；用最长冷冻胚胎出生的双胞胎；诱拐双胞胎婴儿；不同年份出生的双胞胎。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 Epub Date: 2023-03-16 DOI: 10.1017/thg.2023.3

Nancy L Segal

引用次数: 0

THG volume 26 issue 1 Cover. THG第26卷第1期封面。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2023-02-01 DOI: 10.1017/thg.2023.29

引用次数: 0

A Century of Behavioral Genetics at the University of Minnesota. 明尼苏达大学的行为遗传学的一个世纪。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2022-12-01 DOI: 10.1017/thg.2023.1

Emily A Willoughby, Alexandros Giannelis, William G Iacono, Matt McGue, Scott I Vrieze

引用次数: 2

THG volume 25 issue 6 Cover and Front matter. THG第25卷第6期封面和封面事项。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2022-12-01 DOI: 10.1017/thg.2022.40

引用次数: 0

Effect of Superficial Anastomoses on Circulatory Dynamics in Twin-Twin Transfusion Syndrome. 浅表吻合口对双胎输血综合征循环动力学的影响。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2022-12-01 DOI: 10.1017/thg.2022.38

Hiroko Konno, Takeshi Murakoshi

{"title":"Effect of Superficial Anastomoses on Circulatory Dynamics in Twin-Twin Transfusion Syndrome.","authors":"Hiroko Konno, Takeshi Murakoshi","doi":"10.1017/thg.2022.38","DOIUrl":"https://doi.org/10.1017/thg.2022.38","url":null,"abstract":"The role of superficial anastomoses in the survival of fetuses with twin-twin transfusion syndrome after fetoscopic laser photocoagulation is unknown. This study aimed to evaluate how superficial anastomoses affect the circulatory dynamics of both fetuses with twin-twin transfusion syndrome using ductus venous Doppler waveforms. We included all twin-twin transfusion syndrome (TTTS) patients who underwent fetoscopic laser photocoagulation in our institution from 2006 to 2019; fetal demise cases after fetoscopic laser photocoagulation were excluded. We recorded ductus venous Doppler waveforms on the same day or one day before fetoscopic laser photocoagulation and one day after fetoscopic laser photocoagulation and measured the ductus venous pulsatility index and velocity ratios. We compared these z-scores of donor and recipient twins between a group without superficial anastomoses and the groups with arterio-arterial or veno-venous anastomoses. A total of 115 surviving TTTS placentas after fetoscopic laser photocoagulation were analyzed. The ductus venous pulsatility index and all ratios were better in recipient twins with arterio-arterial anastomoses than in those without. The a-wave-related ratios were better in recipient twins with veno-venous anastomoses than in those without. Superficial anastomoses reduced the blood volume and arterio-arterial anastomoses protected the diastolic cardiac function in recipient twin-twin transfusion syndrome twins before fetoscopic laser photocoagulation. Superficial anastomoses in TTTS equilibrate blood pressure between donor and recipient twins.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 6","pages":"245-250"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10786766","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

Shared Genetic Factors Contributing to the Overlap between Attention-Deficit/Hyperactivity Disorder Symptoms and Overweight/Obesity in Swedish Adolescent Girls and Boys. 共同的遗传因素导致瑞典青少年男女注意力缺陷/多动障碍症状和超重/肥胖之间的重叠。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2022-12-01 DOI: 10.1017/thg.2022.35

Kristin N Javaras, Melissa A Munn-Chernoff, Elizabeth W Diemer, Laura M Thornton, Cynthia M Bulik, Zeynap Yilmaz, Paul Lichtenstein, Henrik Larsson, Jessica H Baker

{"title":"Shared Genetic Factors Contributing to the Overlap between Attention-Deficit/Hyperactivity Disorder Symptoms and Overweight/Obesity in Swedish Adolescent Girls and Boys.","authors":"Kristin N Javaras, Melissa A Munn-Chernoff, Elizabeth W Diemer, Laura M Thornton, Cynthia M Bulik, Zeynap Yilmaz, Paul Lichtenstein, Henrik Larsson, Jessica H Baker","doi":"10.1017/thg.2022.35","DOIUrl":"https://doi.org/10.1017/thg.2022.35","url":null,"abstract":"Attention-deficit/hyperactivity disorder (ADHD) and obesity are positively associated, with increasing evidence that they share genetic risk factors. Our aim was to examine whether these findings apply to both types of ADHD symptoms for female and male adolescents. We used data from 791 girl and 735 boy twins ages 16-17 years to examine sex-specific phenotypic correlations between the presence of ADHD symptoms and overweight/obese status. For correlations exceeding .20, we then fit bivariate twin models to estimate the genetic and environmental correlations between the presence of ADHD symptoms and overweight/obese status. ADHD symptoms and height/weight were parent- and self-reported, respectively. Phenotypic correlations were .30 (girls) and .08 (boys) for inattention and overweight/obese status and .23 (girls) and .14 (boys) for hyperactivity/impulsivity and overweight/obese status. In girls, both types of ADHD symptoms and overweight/obese status were highly heritable, with unique environmental effects comprising the remaining variance. Furthermore, shared genetic effects explained most of the phenotypic correlations in girls. Results suggest that the positive association of both types of ADHD symptoms with obesity may be stronger in girls than boys. Further, in girls, these associations may stem primarily from shared genetic factors.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"25 6","pages":"226-233"},"PeriodicalIF":0.9,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191205/pdf/nihms-1895668.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10149132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2