Twins

双胞胎
  • 文章类型: Journal Article
    创造力和精神障碍有时被视为交织在一起,但是研究还不清楚是否,多少,以及为什么。在这里,我们探讨了共同的遗传因素在创造力和边缘性人格障碍症状背后的潜在作用(BPD,以情绪波动和思想随机性为特征)。荷兰双胞胎登记册从6745对双胞胎(2378对完整的双胞胎)中收集了BPD分数(PAI-BOR问卷)和从事创造性职业(创造力代理)的数据。首先,我们测试了BPD症状与创造性职业之间是否存在关联.结果证实,在BPD频谱上得分较高的个体更有可能拥有创造性职业(Cohen'sd=0.16)。接下来,我们通过使用双变量经典孪生设计,模拟了这种关联在多大程度上反映了潜在的遗传和/或环境相关性.我们发现创造力和BPD均受遗传因素的影响(BPD的遗传力=0.45,创造力为0.67),并且这些性状与rG=0.17遗传相关。环境影响不相关。这是边缘人格得分和创造力之间共同遗传机制的证据,该机制可能反映因果效应并阐明机制。
    Creativity and mental disorders are sometimes seen as intertwined, but research is still unclear on whether, how much, and why. Here we explore the potential role of shared genetic factors behind creativity and symptoms of borderline personality disorder (BPD, characterized by mood swings and randomness of thoughts). Data were collected from 6745 twins (2378 complete pairs) by the Netherlands Twin Register on BPD scores (PAI-BOR questionnaire) and working in a creative profession (proxy for creativity). First, we tested whether there is an association between BPD symptoms and creative professions. Results confirmed that individuals scoring higher on the BPD spectrum are more likely to have a creative profession (Cohen\'s d = 0.16). Next, we modeled how much of this association reflects underlying genetic and/or environmental correlations-by using a bivariate classical twin design. We found that creativity and BPD were each influenced by genetic factors (heritability = 0.45 for BPD and 0.67 for creativity) and that these traits are genetically correlated rG = 0.17. Environmental influences were not correlated. This is evidence for a common genetic mechanism between borderline personality scores and creativity which may reflect causal effects and shed light on mechanisms.
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  • 文章类型: Journal Article
    背景:Geroscience专注于减轻与衰老相关的分子变化的干预措施。生活方式的修改,药物,社会因素影响衰老过程,然而,复杂的分子机制需要对表观遗传景观进行深入的探索。纯素饮食的特定表观遗传时钟和预测效果,与杂食饮食相比,尽管对衰老相关结局有潜在影响,但仍未充分开发。
    方法:这项研究检查了8周内完全基于植物或健康的杂食性饮食对配对双胞胎血液DNA甲基化的影响。表观遗传年龄加速的各种措施(PCGrimAge,PCPhenoAge,DunedinPACE)进行了评估,以及系统特异性效应(炎症,心,荷尔蒙,肝脏,和代谢)。临床的甲基化替代,代谢物,和蛋白质标记物被分析以观察饮食特异性变化。
    结果:观察到明显的反应,素食主义者队列表现出整体表观遗传年龄加速显着下降,与植物性饮食的抗衰老效果保持一致。在甲基化替代分析中注意到饮食特异性变化,通过DNA甲基化标记证明饮食对复杂性状预测的影响。全基因组分析揭示了每种饮食特有的差异甲基化位点,提供对受影响途径的见解。
    结论:这项研究表明,短期纯素饮食与表观遗传年龄益处和减少卡路里摄入量有关。表观遗传生物标志物代理(EBPs)的使用突出了它们在评估饮食影响和促进健康衰老的个性化营养策略方面的潜力。未来的研究应该探索纯素饮食对表观遗传健康和整体健康的长期影响。考虑到适当营养补充的重要性。
    背景:Clinicaltrials.gov标识符:NCT05297825。
    BACKGROUND: Geroscience focuses on interventions to mitigate molecular changes associated with aging. Lifestyle modifications, medications, and social factors influence the aging process, yet the complex molecular mechanisms require an in-depth exploration of the epigenetic landscape. The specific epigenetic clock and predictor effects of a vegan diet, compared to an omnivorous diet, remain underexplored despite potential impacts on aging-related outcomes.
    METHODS: This study examined the impact of an entirely plant-based or healthy omnivorous diet over 8 weeks on blood DNA methylation in paired twins. Various measures of epigenetic age acceleration (PC GrimAge, PC PhenoAge, DunedinPACE) were assessed, along with system-specific effects (Inflammation, Heart, Hormone, Liver, and Metabolic). Methylation surrogates of clinical, metabolite, and protein markers were analyzed to observe diet-specific shifts.
    RESULTS: Distinct responses were observed, with the vegan cohort exhibiting significant decreases in overall epigenetic age acceleration, aligning with anti-aging effects of plant-based diets. Diet-specific shifts were noted in the analysis of methylation surrogates, demonstrating the influence of diet on complex trait prediction through DNA methylation markers. An epigenome-wide analysis revealed differentially methylated loci specific to each diet, providing insights into the affected pathways.
    CONCLUSIONS: This study suggests that a short-term vegan diet is associated with epigenetic age benefits and reduced calorie intake. The use of epigenetic biomarker proxies (EBPs) highlights their potential for assessing dietary impacts and facilitating personalized nutrition strategies for healthy aging. Future research should explore the long-term effects of vegan diets on epigenetic health and overall well-being, considering the importance of proper nutrient supplementation.
    BACKGROUND: Clinicaltrials.gov identifier: NCT05297825.
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  • 文章类型: Journal Article
    背景:与母乳喂养多胎相关的经历和挑战可能比单胎复杂得多。多胎是指在一次出生事件中分娩一个以上的后代。强调母乳喂养期间多胎母亲的需求和经历可以使医疗保健提供者能够设计有针对性的干预措施,以提高母乳喂养率。然而,现有的母乳喂养和健康教育资源和做法不能完全满足母乳喂养倍数的妇女的需求。这篇综述旨在回顾和综合有关多胎妇女母乳喂养经历的定性研究。
    方法:在10个电子数据库中进行了系统搜索,以查找从数据库开始到2024年3月发表的论文。JoannaBriggs研究所定性研究关键评估清单用于评估所包括研究的方法学质量。采用Thomas和Harden的主题综合方法对收录的文献进行整合和分析,得出新的类别和结论。
    结果:8项研究符合本研究的纳入标准和质量评估标准。通过整合他们的结果,确定了四个主题:多胎母乳喂养的选择和意愿;多胎母乳喂养的挑战;母乳喂养的阶段管理和个性化适应;以及支持的经验.
    结论:从怀孕到产后的整个喂养过程,多胎分娩的母亲通常对母乳喂养有主要的负面体验。因此,医院应该建立一个由产科组成的多学科随访团队,新生儿科,心理学,和社区服务,在不同阶段为这些妇女提供专门和个性化的支持。
    背景:[https://www.crd.约克。AC.uk/PROSPERO/],标识符[PROSPERO2024CRD42024520348]。
    BACKGROUND: The experiences and challenges associated with breastfeeding multiple births can be considerably more complex than those of singletons. Multiple births refer to the delivery of more than one offspring in a single birth event. Emphasizing the needs and experiences of mothers with multiple births during breastfeeding can enable healthcare providers to design targeted interventions that enhance breastfeeding rates. However, existing breastfeeding and health education resources and practices do not fully meet the needs of women who breastfeed multiples. This review aimed to review and synthesize qualitative studies on the breastfeeding experiences of women with multiple births.
    METHODS: A systematic search was conducted in 10 electronic databases for papers published from the inception of the database to March 2024. The Joanna Briggs Institute Critical Appraisal Checklist for Qualitative Research was utilized to evaluate the methodological quality of the studies included. The thematic synthesis method of Thomas and Harden was employed to integrate and analyze the included literature to derive new categories and conclusions.
    RESULTS: Eight studies met the inclusion criteria and quality assessment criteria for this study. Through the integration of their results, four themes were identified: the choice and willingness to breastfeed multiple births; the challenges of breastfeeding multiple births; stage management and individualised adaptation of breastfeeding; and the experience of support.
    CONCLUSIONS: Throughout the feeding process from pregnancy to the postpartum period, mothers with multiple births often have predominantly negative experiences with breastfeeding. Consequently, hospitals should create a multidisciplinary follow-up team comprising obstetrics, neonatology, psychology, and community services to offer specialized and personalized support to these women at various stages.
    BACKGROUND: [ https://www.crd.york.ac.uk/PROSPERO/ ], identifier [PROSPERO 2024 CRD42024520348].
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  • 文章类型: Journal Article
    背景:表观遗传时钟被认为是衰老的有希望的生物标志物,包括由各个CpG站点训练的原始时钟和由CpG站点的PC训练的主成分(PC)时钟。遗传和环境因素对表观遗传时钟的影响尚不清楚。特别是PC时钟。
    方法:我们从中国国家双胞胎注册中心(CNTR)中构建了477对同性双胞胎的单变量双胞胎模型,以估计五个表观遗传钟(GrimAge,PhenoAge,DunedinPACE,PCGrimAge,和PCPhenoAge)。此外,我们调查了134对同性双胞胎5年中遗传和环境影响对表观遗传时钟的纵向变化。
    结果:表观遗传时钟的遗传力范围为0.45至0.70,PC时钟的遗传力高于原始时钟。对于五个表观遗传时钟,纵向稳定性中等到高,主要是由于遗传效应。基线和后续表观遗传时钟之间的遗传相关性中等到高。在基线和后续行动中都出现了特殊的独特环境因素。PC时钟比原始时钟显示出更高的纵向稳定性和独特的环境相关性。
    结论:对于五个表观遗传时钟,他们有可能识别衰老干预措施。高纵向稳定性主要是由于遗传因素,表观遗传时钟随时间的变化主要是由于独特环境因素的变化。考虑到遗传和环境因素的差异以及PC和原始时钟之间的纵向稳定性,原始时钟的研究结果需要用PC时钟进一步验证。
    BACKGROUND: Epigenetic clocks were known as promising biomarkers of aging, including original clocks trained by individual CpG sites and principal component (PC) clocks trained by PCs of CpG sites. The effects of genetic and environmental factors on epigenetic clocks are still unclear, especially for PC clocks.
    METHODS: We constructed univariate twin models in 477 same-sex twin pairs from the Chinese National Twin Registry (CNTR) to estimate the heritability of five epigenetic clocks (GrimAge, PhenoAge, DunedinPACE, PCGrimAge, and PCPhenoAge). Besides, we investigated the longitudinal changes of genetic and environmental influences on epigenetic clocks across 5 years in 134 same-sex twin pairs.
    RESULTS: Heritability of epigenetic clocks ranged from 0.45 to 0.70, and those for PC clocks were higher than those for original clocks. For five epigenetic clocks, the longitudinal stability was moderate to high and was largely due to genetic effects. The genetic correlations between baseline and follow-up epigenetic clocks were moderate to high. Special unique environmental factors emerged both at baseline and at follow-up. PC clocks showed higher longitudinal stability and unique environmental correlations than original clocks.
    CONCLUSIONS: For five epigenetic clocks, they have the potential to identify aging interventions. High longitudinal stability is mainly due to genetic factors, and changes of epigenetic clocks over time are primarily due to changes in unique environmental factors. Given the disparities in genetic and environmental factors as well as longitudinal stability between PC and original clocks, the results of studies with original clocks need to be further verified with PC clocks.
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  • 文章类型: Journal Article
    社会科学研究认为,个人文学和文化品味的差异源于社会环境。然而,这些差异可能部分与个体之间的遗传差异有关。为了解决这种可能性,我们使用丹麦双胞胎(N=67,900)中图书馆借阅的国家规模注册数据来评估文学品味的遗传力。我们通过借用不同类型的书籍来衡量文学品味(例如,犯罪和传记小说)和格式(物理,数字,和音频),并将文学品味的总方差分解为可归因于共享基因的成分(遗传力),共享环境(兄弟姐妹共享的社会环境),和独特的环境(兄弟姐妹不共享的社会环境)。我们发现遗传差异占文学品味总变异的45-70%,共享环境几乎不占任何差异,和独特的环境占适度的份额。这些结果表明,文学品味与其他人类表型大致一样可遗传(例如,身体特征,认知,和健康)。此外,社会经济弱势群体的遗传力高于弱势群体。总的来说,我们的研究结果表明,研究应该考虑遗传差异在解释文学和更广泛的文化品味中的个体差异方面的作用。
    Social science research argues that differences in individuals\' literary and cultural tastes originate in social environments. Yet, it might be that these differences are partly associated with genetic differences between individuals. To address this possibility, we use nation-scale registry data on library borrowing among Danish twins (N = 67,900) to assess the heritability of literary tastes. We measure literary tastes via borrowing of books of different genres (e.g., crime and biographical novels) and formats (physical, digital, and audio) and decompose the total variance in literary tastes into components attributable to shared genes (heritability), shared environments (social environment shared by siblings), and unique environments (social environments not shared by siblings). We find that genetic differences account for 45-70 percent of the total variance in literary tastes, shared environments account for almost none of the variance, and unique environments account for a moderate share. These results suggest that literary tastes are approximately as heritable as other human phenotypes (e.g., physical traits, cognition, and health). Moreover, heritability is higher for socioeconomically disadvantaged groups than for advantaged groups. Overall, our results suggest that research should consider the role of genetic differences in accounting for individual differences in literary and broader cultural tastes.
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  • 文章类型: Journal Article
    阻塞性睡眠呼吸暂停(OSA)是老年人(年龄>65岁)人群的常见病,但是需要更多的机械研究来个性化治疗。先前的证据表明OSA与创伤后应激障碍(PTSD)之间存在关联,但受到可能的选择偏见的限制。对这种关联的高质量研究以及对可能的混杂因素的仔细评估可能会对两种情况产生重要的机械洞察力,并改善治疗努力。
    探讨当前PTSD症状和PTSD诊断与OSA的关系。
    这项针对PTSD的双胞胎对不一致的横断面研究,这允许调整家庭因素,于2017年3月20日至2019年6月3日使用实验室多导睡眠图进行。研究样本包括从越南时代双胞胎登记处招募的男性资深双胞胎。数据分析在2022年6月11日至2023年1月30日之间进行。
    在越南战争中服役的双胞胎的PTSD症状。PTSD的诊断是二次暴露。
    使用通宵多导睡眠图的呼吸暂停低通气指数(AHI)(以每小时事件测量≥4%的氧饱和度标准)评估阻塞性睡眠呼吸暂停。使用PTSD检查表(PCL)和用于PTSD诊断的结构化临床访谈评估PTSD的症状。
    总共181对男性双胞胎(平均[SD]年龄,68.4[2.0]年),包括66对PTSD症状不一致和15对当前PTSD诊断不一致。在对PCL和OSA进行配对检查并根据体重指数(BMI)和其他社会人口统计学进行调整的模型中,心血管,和精神危险因素(包括抑郁症),PCL每增加15分,AHI每小时增加4.6(95%CI,0.1~9.1)个事件相关.当前的PTSD诊断与每睡眠小时的AHI每小时增加10.5(95%CI,5.7-15.3)事件相关。发现PTSD症状和BMI与每SD增加一次AHI的相关性的标准化估计(每小时1.9个事件;95%CI,每小时0.5-3.3个事件)。
    这项横断面研究发现PTSD与睡眠呼吸紊乱之间存在关联。这些发现具有重要的公共卫生意义,也可能增强对潜在影响OSA病理生理学的许多因素的理解。
    UNASSIGNED: Obstructive sleep apnea (OSA) is a common condition in older adult (aged >65 years) populations, but more mechanistic research is needed to individualize treatments. Previous evidence has suggested an association between OSA and posttraumatic stress disorder (PTSD) but is limited by possible selection bias. High-quality research on this association with a careful evaluation of possible confounders may yield important mechanistic insight into both conditions and improve treatment efforts.
    UNASSIGNED: To investigate the association of current PTSD symptoms and PTSD diagnosis with OSA.
    UNASSIGNED: This cross-sectional study of twin pairs discordant for PTSD, which allows for adjustment for familial factors, was conducted using in-laboratory polysomnography from March 20, 2017, to June 3, 2019. The study sample comprised male veteran twins recruited from the Vietnam Era Twin Registry. The data analysis was performed between June 11, 2022, and January 30, 2023.
    UNASSIGNED: Symptoms of PTSD in twins who served in the Vietnam War. Diagnosis of PTSD was a secondary exposure.
    UNASSIGNED: Obstructive sleep apnea was assessed using the apnea-hypopnea index (AHI) (≥4% oxygen saturation criterion as measured by events per hour) with overnight polysomnography. Symptoms of PTSD were assessed using the PTSD Checklist (PCL) and structured clinical interview for PTSD diagnosis.
    UNASSIGNED: A total of 181 male twins (mean [SD] age, 68.4 [2.0] years) including 66 pairs discordant for PTSD symptoms and 15 pairs discordant for a current PTSD diagnosis were evaluated. In models examining the PCL and OSA within pairs and adjusted for body mass index (BMI) and other sociodemographic, cardiovascular, and psychiatric risk factors (including depression), each 15-point increase in PCL was associated with a 4.6 (95% CI, 0.1-9.1) events-per-hour higher AHI. Current PTSD diagnosis was associated with an adjusted 10.5 (95% CI, 5.7-15.3) events-per-hour higher AHI per sleep-hour. Comparable standardized estimates of the association of PTSD symptoms and BMI with AHI per SD increase (1.9 events per hour; 95% CI, 0.5-3.3 events per hour) were found.
    UNASSIGNED: This cross-sectional study found an association between PTSD and sleep-disordered breathing. The findings have important public health implications and may also enhance understanding of the many factors that potentially affect OSA pathophysiology.
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  • 文章类型: Journal Article
    DNA稳定的银纳米簇(DNA-AgNC)是一类具有有趣的光物理性质的荧光团,主要由DNA序列的选择决定。使用紫外线激发和稳态孔板读取器的筛选方法先前已用于加深DNA序列和所得DNA-AgNC的发射颜色之间的理解。这里,我们提出了一种使用脉冲白光激发(λex≈490-900nm)筛选DNA-AgNCs的新方法。通过减法和时间门控,我们能够规避白色激发光的主要散射,并在可见到近红外范围内提取DNA-AgNC的时间和光谱分辨发射。此外,我们能够识别弱的长寿命排放,通常埋在强烈的纳秒荧光之下。这种新方法将有助于未来筛选DNA-AgNCs(或其他新型发射材料),并通过提供更丰富的训练数据集来帮助机器学习模型。
    DNA-stabilized silver nanoclusters (DNA-AgNCs) are a class of fluorophores with interesting photophysical properties dominated by the choice of DNA sequence. Screening methods with ultraviolet excitation and steady state well plate readers have previously been used for deepening the understanding between DNA sequence and emission color of the resulting DNA-AgNCs. Here, we present a new method for screening DNA-AgNCs by using pulsed white light excitation (λex ≈ 490-900 nm). By subtraction and time gating we are able to circumvent the dominating scatter of the white excitation light and extract both temporally and spectrally resolved emission of DNA-AgNCs over the visible to near-infrared range. Additionally, we are able to identify weak long-lived emission, which is often buried underneath the intense nanosecond fluorescence. This new approach will be useful for future screening of DNA-AgNCs (or other novel emissive materials) and aid machine-learning models by providing a richer training data set.
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  • 文章类型: Journal Article
    要介绍MexOMICS,墨西哥财团专注于建立电子数据库来收集,交叉引用,并分享墨西哥人口的健康相关数据和组学数据。
    自2019年以来,MexOMICS联盟建立了三个基于电子的注册管理机构:墨西哥孪生注册管理机构(TwinsMX),墨西哥狼疮登记处(LupusRGMX),和墨西哥帕金森研究网络(MEX-PD),使用基于Web的研究电子数据捕获应用程序进行设计和实现。参与者通过自愿参与和与医学专家的现场接触进行注册。我们还获得了参与者子集的DNA样本和磁共振成像扫描。
    注册管理机构已成功注册了来自墨西哥各个地区的大量参与者:TwinsMX(n=2,915),LupusRGMX(n=1,761)和MEX-PD(n=750)。除了社会人口统计学,社会心理,和临床数据,MexOMICS收集了DNA样本,以研究三个注册表中的遗传生物标志物。已通过蒙特利尔认知评估对376名MEX-PD参与者的子集进行了认知功能评估。此外,267对双胞胎的一个子集参与了Creyos平台的认知评估,并参与了MRI课程,功能,和光谱学脑成像;计划对LupusRGMX和MEX-PD进行可比评估。
    MexOMICS注册中心提供了有关墨西哥人口中遗传和环境因素在健康状况中潜在相互作用的有价值的信息库。
    UNASSIGNED: To introduce MexOMICS, a Mexican Consortium focused on establishing electronic databases to collect, cross-reference, and share health-related and omics data on the Mexican population.
    UNASSIGNED: Since 2019, the MexOMICS Consortium has established three electronic-based registries: the Mexican Twin Registry (TwinsMX), Mexican Lupus Registry (LupusRGMX), and the Mexican Parkinson\'s Research Network (MEX-PD), designed and implemented using the Research Electronic Data Capture web-based application. Participants were enrolled through voluntary participation and on-site engagement with medical specialists. We also acquired DNA samples and Magnetic Resonance Imaging scans in subsets of participants.
    UNASSIGNED: The registries have successfully enrolled a large number of participants from a variety of regions within Mexico: TwinsMX (n = 2,915), LupusRGMX (n = 1,761) and MEX-PD (n = 750). In addition to sociodemographic, psychosocial, and clinical data, MexOMICS has collected DNA samples to study the genetic biomarkers across the three registries. Cognitive function has been assessed with the Montreal Cognitive Assessment in a subset of 376 MEX-PD participants. Furthermore, a subset of 267 twins have participated in cognitive evaluations with the Creyos platform and in MRI sessions acquiring structural, functional, and spectroscopy brain imaging; comparable evaluations are planned for LupusRGMX and MEX-PD.
    UNASSIGNED: The MexOMICS registries offer a valuable repository of information concerning the potential interplay of genetic and environmental factors in health conditions among the Mexican population.
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  • 文章类型: Journal Article
    感知压力(PS)和游戏成瘾(GA)之间的关联是有据可查的。然而,解释这种关联的机制尚不清楚.使用基因信息设计,本研究旨在通过环境相互作用(GxE)区分基因的素质应激和生物生态模型,以解释这种关系的潜在机制。
    总共,1,468对双胞胎(平均年龄=22.6±2.8岁)完成了包括GA和PS量表的在线调查。计算了GA和PS的孪生相关性,并进行了单变量模型拟合分析,以确定遗传和环境对GA和PS的影响。进行双变量GxE模型拟合分析以确定最佳GxE相互作用模型。
    加性遗传,共享环境,非共有环境效应为0.70(95CI=0.61,0.77),0.00和0.30(95CI=0.26,0.33),和0.38(95CI=0.24,0.55),0.35(95%CI=0.18,0.51),GA和PS为0.22(95CI=0.20,0.26),分别。双变量GxE模型拟合分析支持素质-应力模型,在较高水平的PS中,遗传对GA的影响更大,而环境对GA的影响很小,并且在PS水平上是恒定的。
    GA的素质-应激模型的证据与许多形式的精神病理学的病因过程一致。这些发现应纳入临床环境,以改善GA的治疗。并用于发展GA的干预和预防方法。
    UNASSIGNED: The association between perceived stress (PS) and gaming addiction (GA) is well documented. However, the mechanism for explaining this association remains unclear. Using a genetically informative design, this study aims to distinguish between the diathesis-stress and bio-ecological models of gene by environment interaction (G x E) to explain the underlying mechanism of the relationship.
    UNASSIGNED: In total, 1,468 twins (mean age = 22.6 ± 2.8 years) completed an online survey including the GA and PS scales. Twin correlations for GA and PS were computed and univariate model-fitting analysis was conducted to determine genetic and environmental influences on GA and PS. The bivariate G x E model-fitting analysis was performed to determine the best G x E interaction model.
    UNASSIGNED: Additive genetic, shared environmental, and non-shared environmental effects were 0.70 (95%CI = 0.61, 0.77), 0.00, and 0.30 (95%CI = 0.26, 0.33), and 0.38 (95%CI = 0.24, 0.55), 0.35 (95% CI = 0.18, 0.51), and 0.22 (95%CI = 0.20, 0.26) for GA and PS, respectively. Bivariate G x E model-fitting analysis supported the diathesis-stress model, where genetic influences on GA were greater in higher levels of PS, whereas environmental influences on GA were small and constant across levels of PS.
    UNASSIGNED: The evidence for the diathesis-stress model for GA is consistent with the etiological process of many forms of psychopathology. The findings should be incorporated in clinical settings to improve the treatment of GA, and used in developments of intervention and prevention methods for GA.
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  • 文章类型: Journal Article
    流行病学研究人员经常在非实验设计中检查风险因素与健康结果之间的关联。观察到的关联可能是因果关系,也可能被未测量的因素混淆。兄弟姐妹和双胞胎对照研究通过比较兄弟姐妹(或双胞胎)之间的暴露水平来解释家族混杂。如果暴露-结果关联是因果关系,兄弟姐妹对结果也应该有所不同。然而,这样的研究有时可能会引入更多的偏见,而不是减轻。暴露中的测量误差可能会使结果产生偏差,并导致错误的结论,即真正的因果暴露-结果关联被家庭因素混淆。当前的研究使用蒙特卡洛模拟来检查由于观察到的暴露-结果关联确实是因果关系而导致的兄弟姐妹控制模型中的测量误差引起的偏差。结果表明,暴露可靠性的降低和暴露中兄弟姐妹相关性的增加导致暴露-结果关联的缩小以及暴露的家庭平均值与结果之间的关联膨胀。在许多情况下,错误地得出结论认为因果关系混淆的风险很高。例如,当暴露可靠性为0.7,观察到的兄弟相关性为r=0.4,约30-90%的样本(n=2,000)提供了支持混淆的错误结论的结果,取决于p值如何解释为家庭效应对结局的证据。当前的结果对于流行病学研究人员进行或审查兄弟姐妹和双胞胎对照研究具有实际重要性,并且可能会提高我们对观察到的风险因素与健康结果之间关联的理解。我们开发了一个应用程序(SibSim),提供了本文未介绍的许多情况的模拟。
    Epidemiological researchers often examine associations between risk factors and health outcomes in non-experimental designs. Observed associations may be causal or confounded by unmeasured factors. Sibling and co-twin control studies account for familial confounding by comparing exposure levels among siblings (or twins). If the exposure-outcome association is causal, the siblings should also differ regarding the outcome. However, such studies may sometimes introduce more bias than they alleviate. Measurement error in the exposure may bias results and lead to erroneous conclusions that truly causal exposure-outcome associations are confounded by familial factors. The current study used Monte Carlo simulations to examine bias due to measurement error in sibling control models when the observed exposure-outcome association is truly causal. The results showed that decreasing exposure reliability and increasing sibling-correlations in the exposure led to deflated exposure-outcome associations and inflated associations between the family mean of the exposure and the outcome. The risk of falsely concluding that causal associations were confounded was high in many situations. For example, when exposure reliability was 0.7 and the observed sibling-correlation was r = 0.4, about 30-90% of the samples (n = 2,000) provided results supporting a false conclusion of confounding, depending on how p-values were interpreted as evidence for a family effect on the outcome. The current results have practical importance for epidemiological researchers conducting or reviewing sibling and co-twin control studies and may improve our understanding of observed associations between risk factors and health outcomes. We have developed an app (SibSim) providing simulations of many situations not presented in this paper.
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