Twin research : the official journal of the International Society for Twin Studies最新文献

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The Consequences of Selective Participation on Behavioral-Genetic Findings: Evidence from Simulated and Real Data 选择性参与对行为遗传学发现的影响:来自模拟和真实数据的证据

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-10-01 DOI: 10.1375/twin.7.5.485

Alan Taylor

Abstract Nonresponse occurs when individuals either have no chance of being included in a study (noncoverage), refuse to take part (unit nonresponse), or fail to give complete information (item nonresponse). The purpose of this article is to test the possible biasing effects of nonresponse on the results of behavioral-genetic studies. Simulations and a real data ‘natural’ experiment were used to determine the impact of nonresponse on estimates of additive genetic and environmental effects. The simulations used realistic twin-pair correlations and models of nonresponse derived from prior research. The real data ‘natural experiment’ used data from a nationally representative birth-cohort twin study (E-Risk Study) and compared model results from families who had responded to a mail survey to those from all study cases. Results showed that the primary influence of nonresponse was to attenuate the effect of the shared environment and to inflate estimates of non-shared environment and additive genetic effects. At high levels of nonresponse a spurious nonadditive genetic effect (suggesting genetic dominance) was also found. Study nonresponse was shown to have the potential to bias the findings of behavioral-genetic research. Design and analysis methods that can be used to alleviate this potentially important biasing effect in behavioral-genetic studies are discussed in light of these findings.

当个体没有机会被纳入研究(无覆盖)、拒绝参与(单位无响应)或未能提供完整的信息(项目无响应)时，就会发生无响应。本文的目的是测试无反应对行为遗传学研究结果可能产生的偏倚效应。采用模拟和真实数据“自然”实验来确定不响应对加性遗传和环境效应估计的影响。模拟使用了现实的双胞胎相关性和从先前研究中得出的无反应模型。真实数据“自然实验”使用了一项具有全国代表性的出生队列双胞胎研究(E-Risk study)的数据，并将回复邮件调查的家庭的模型结果与所有研究案例的模型结果进行了比较。结果表明，不响应的主要影响是减弱了共享环境的影响，并夸大了非共享环境和可加性遗传效应的估计。在高水平的不反应中，还发现了虚假的非加性遗传效应(表明遗传优势)。研究表明，研究无反应有可能使行为遗传学研究的结果产生偏差。设计和分析方法，可以用来减轻这种潜在的重要的偏差效应，在行为遗传学研究的光这些发现进行了讨论。

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引用次数: 0

Should the Statistical Analyses of Twinning-Rate Data be Improved? 孪生率数据的统计分析是否需要改进?

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-10-01 DOI: 10.1375/twin.7.5.398

J. Fellman, A. Eriksson

Abstract Every statistical model is based on explicitly or implicitly formulated assumptions. In this study we address new techniques of calculation of variances and confidence intervals, analyse some statistical methods applied to modelling twinning rates, and investigate whether the improvements give more reliable results. For an observed relative frequency, the commonly used variance formula holds exactly with the assumptions that the repetitions are independent and that the probability of success is constant. The probability of a twin maternity depends not only on genetic predisposition, but also on several demographic factors, particularly ethnicity, maternal age and parity. Therefore, the assumption of constancy is questionable. The effect of grouping on the analysis of regression models for twinning rates is also considered. Our results indicate that grouping influences the efficiency of the estimates but not the estimates themselves. Recently, confidence intervals for proportions of low-incidence events have been a target for revived interest and we present the new alternatives. These confidence intervals are slightly wider and their midpoints do not coincide with the maximum-likelihood estimate of the twinning rate, but their actual coverage is closer to the nominal one than the coverage of the traditional confidence interval. In general, our findings indicate that the traditional methods are mainly satisfactorily robust and give reliable results. However, we propose that new formulae for the confidence intervals should be used. Our results are applied to twin-maternity data from Finland and Denmark.

每个统计模型都是基于显式或隐式的假设。在这项研究中，我们提出了计算方差和置信区间的新技术，分析了一些应用于孪生率建模的统计方法，并研究了这些改进是否能提供更可靠的结果。对于观察到的相对频率，通常使用的方差公式在重复是独立的并且成功的概率是恒定的假设下准确地成立。双胞胎的可能性不仅取决于遗传倾向，还取决于几个人口因素，特别是种族、母亲年龄和胎次。因此，恒常性假设是有问题的。分组对孪生率回归模型分析的影响也被考虑。我们的结果表明，分组影响估计的效率，但不影响估计本身。最近，低发病率事件比例的置信区间已成为恢复兴趣的目标，我们提出了新的替代方案。这些置信区间略宽，它们的中点与孪生率的最大似然估计不一致，但它们的实际覆盖范围比传统置信区间的覆盖范围更接近名义范围。总的来说，我们的研究结果表明，传统方法主要是令人满意的鲁棒性，并给出可靠的结果。然而，我们建议应该使用新的置信区间公式。我们的研究结果应用于芬兰和丹麦的双胞胎数据。

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引用次数: 2

Growth Patterns in Young Adult Monozygotic Twin Pairs Discordant and Concordant for Obesity 肥胖的年轻同卵双胞胎生长模式不一致与一致

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-10-01 DOI: 10.1375/twin.7.5.421

K. Pietiläinen, A. Rissanen, M. Laamanen, A. Lindholm, Harri Markkula, H. Yki-Järvinen, J. Kaprio

Abstract Weight discordance is very rare in monozygotic (MZ) twin pairs; when found, however, such pairs are advantageous in the search for either environmental or epigenetic causes and consequences of obesity. We analyzed the growth patterns of young adult MZ pairs discordant and concordant for obesity. Screening 5 consecutive birth cohorts (1975–1979) of 22- to 27-year-old Finnish twins (the FinnTwin16 study), we found 14 obesity discordant (Body Mass Index [BMI] difference ≥ 4 kg/m2) MZ pairs out of 658. Ten pairs participated in clinical studies. Nine concordant pairs (BMI difference ≤ 2 kg/m2) were examined as controls. Lifetime measured heights and weights recorded in hospitals and health centers were traced manually. Height development was similar in all the co-twins of both groups. The weight differences between the co-twins of the discordant pairs began to emerge at 18 years leading to an average discordance of 16.4 kg, 5.6 kg/m2(p for both = .005) at 25.7 years. The heavier co-twin weighed 221 g (p = .066), 1.0 kg/m2 (p = .01) more already at birth than the leaner, but the differences waned by 6 months of age and reappeared only after adolescence. Both the leaner and the heavier co-twins of the discordant pairs weighed more than expected by the singleton reference values (Cole et al., 1998) after 8 years. The concordant co-twins, on the other hand, grew similarly and after 6 months, their mean growth was not distinguishable from the singleton patterns. Young adulthood represents a critical period of gaining weight irrespective of genetic background in this twin sample.

摘要体重不一致在同卵双胞胎中是非常罕见的;然而，一旦被发现，这样的配对在寻找肥胖的环境或表观遗传原因和后果方面都是有利的。我们分析了肥胖不一致和一致的青年MZ对的生长模式。对5个连续出生队列(1975-1979)22- 27岁的芬兰双胞胎(FinnTwin16研究)进行筛查，我们发现658对MZ对中有14对肥胖不一致(体重指数[BMI]差异≥4 kg/m2)。10对参与了临床研究。9对(BMI差异≤2 kg/m2)为对照。在医院和保健中心记录的终生测量身高和体重是手工追踪的。两组双胞胎的身高发育情况相似。不和谐双胞胎的体重差异在18岁时开始出现，导致25.7岁时的平均差异为16.4 kg/m2, 5.6 kg/m2(p均= 0.005)。体重较重的双胞胎出生时体重为221克(p = 0.066)，比体重较轻的双胞胎重1.0公斤/平方米(p = 0.01)，但这种差异在6个月大时减弱，直到青春期后才重新出现。8年后，不和谐对中较瘦和较重的双胞胎的体重都超过了单胎参考值(Cole et al.， 1998)的预期。另一方面，同卵双胞胎的生长相似，6个月后，他们的平均生长与单卵双胞胎没有区别。在这个双胞胎样本中，无论遗传背景如何，年轻的成年期都是体重增加的关键时期。

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引用次数: 1

Twin research, and its multiple births and expressions: a short, personal voyage through its scope, history, and organization. 双胞胎研究，及其多胞胎和表现:通过其范围，历史和组织进行简短的个人旅行。

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01 DOI: 10.1375/136905204774200442

Paolo Parisi

The notion of twins and twinning involves a multiplicity of meanings and contexts that altogether encompass an unexpectedly wide and significant part of human experience, culture, and endeavor. This cultural polysemy is, to some extent, also an attribute of twin research, which has structured itself around a multiplicity of scientific areas of enquiry, and across time, throughout a multiplicity of births and rebirths, periodically declining and resurging as a phoenix from its ashes. What is proposed is a short voyage through this polysemy and phoenixity of twinning and twin research, and through the structuring process that has accompanied its developments, international scope, and organization. No claim to completeness, but an attempt to dig into personal memory and experience, and share some recollections of the main steps of the process, and particularly the evolution of the journal, the society, the international meetings, and their role in supporting the area's persistence and continuous revivals and adaptations until today.

双胞胎和双胞胎的概念包含了多种含义和背景，它们共同包含了人类经验、文化和努力的一个意想不到的广泛而重要的部分。在某种程度上，这种文化的多义性也是双生子研究的一种属性，它围绕着多种科学领域的探索，跨越时间，经历了多种诞生和重生，周期性地衰落和复活，就像凤凰从灰烬中重生一样。我所提出的是一个简短的旅程，通过双胞胎和双胞胎研究的多义性和凤凰性，并通过伴随其发展，国际范围和组织的结构过程。不要求完整，但试图挖掘个人的记忆和经验，并分享一些回忆的主要步骤的过程，特别是演变的期刊，社会，国际会议，和他们的作用，支持该地区的持久性和持续的复苏和适应，直到今天。

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引用次数: 3

Abstracts from the 11th International Congress on Twin Studies. Denmark, 1-4 July 2004. 第11届国际双胞胎研究大会摘要。丹麦，2004年7月1日至4日。

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01

引用次数: 0

The danish twin registry: past and present. 丹麦双胞胎登记:过去和现在。

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01 DOI: 10.1375/136905204774200451

Bent Harvald, Gudrun Hauge, Kirsten Ohm Kyvik, Kaare Christensen, Axel Skytthe, Niels V Holm

The Danish Twin Registry was established formally in 1954 and thus celebrates its 50th anniversary in 2004. Here we give an account of its founding and the early years, and a brief summary of more recent progress.

丹麦双胞胎登记处于1954年正式成立，因此在2004年庆祝了它的50周年。在这里，我们将叙述它的成立和早期，并简要总结最近的进展。

引用次数: 28

Abstracts from the 11th International Congress on Twin Studies Denmark, 1–4 July 2004 第11届国际双胞胎研究大会，丹麦，2004年7月1-4日

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01 DOI: 10.1375/twin.7.4.336

引用次数: 0

Twin Research, and its Multiple Births and Expressions: A Short, Personal Voyage Through its Scope, History,and Organization 双胞胎研究及其多胞胎和表达:通过其范围、历史和组织进行短暂的个人旅行

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01 DOI: 10.1375/twin.7.4.309

P. Parisi

Abstract The notion of twins and twinning involves a multiplicity of meanings and contexts that altogether encompass an unexpectedly wide and significant part of human experience, culture, and endeavor. This cultural polysemy is, to some extent, also an attribute of twin research, which has structured itself around a multiplicity of scientific areas of enquiry, and across time, throughout a multiplicity of births and rebirths, periodically declining and resurging as a phoenix from its ashes. What is proposed is a short voyage through this polysemy and phoenixity of twinning and twin research, and through the structuring process that has accompanied its developments, international scope, and organization. No claim to completeness, but an attempt to dig into personal memory and experience, and share some recollections of the main steps of the process, and particularly the evolution of the journal, the society, the international meetings, and their role in supporting the area's persistence and continuous revivals and adaptations until today.

双胞胎和双胞胎的概念涉及多种含义和上下文，它们共同包含了人类经验、文化和努力的一个意想不到的广泛而重要的部分。在某种程度上，这种文化的多义性也是双生子研究的一种属性，它围绕着多种科学领域的探索，跨越时间，经历了多种诞生和重生，周期性地衰落和复活，就像凤凰从灰烬中重生一样。我所提出的是一个简短的旅程，通过双胞胎和双胞胎研究的多义性和凤凰性，并通过伴随其发展，国际范围和组织的结构过程。不要求完整，但试图挖掘个人的记忆和经验，并分享一些回忆的主要步骤的过程，特别是演变的期刊，社会，国际会议，和他们的作用，支持该地区的持久性和持续的复苏和适应，直到今天。

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引用次数: 0

The Danish Twin Registry: Past and Present 丹麦双胞胎登记:过去和现在

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-08-01 DOI: 10.1375/twin.7.4.318

B. Harvald, G. Hauge, K. Kyvik, K. Christensen, A. Skytthe, N. Holm

Abstract The Danish Twin Registry was established formally in 1954 and thus celebrates its 50th anniversary in 2004. Here we give an account of its founding and the early years, and a brief summary of more recent progress.

丹麦双胞胎登记于1954年正式成立，2004年迎来了50周年纪念。在这里，我们将叙述它的成立和早期，并简要总结最近的进展。

引用次数: 27

Implications of absence of measurement invariance for detecting sex limitation and genotype by environment interaction. 缺乏测量不变性对通过环境相互作用检测性别限制和基因型的意义。

Twin research : the official journal of the International Society for Twin Studies

Pub Date : 2004-06-01 DOI: 10.1375/136905204774200578

Gitta H Lubke, Conor V Dolan, Michael C Neale

Using univariate sum scores in genetic studies of twin data is common practice. This practice precludes an investigation of the measurement model relating the individual items to an underlying factor. Absence of measurement invariance across a grouping variable such as gender or environmental exposure refers to group differences with respect to the measurement model. It is shown that a decomposition of a sum score into genetic and environmental variance components leads to path coefficients of the additive genetic factor that are biased differentially across groups if individual items are non-invariant. The arising group differences in path coefficients are identical to what is known as "scalar sex limitation" when gender is the grouping variable, or as "gene by environment interaction" when environmental exposure is the grouping variable. In both cases the interpretation would be in terms of a group-specific effect size of the genetic factor. This interpretation may be incorrect if individual items are non-invariant.

在双胞胎数据的遗传研究中使用单变量和分数是常见的做法。这种做法排除了将单个项目与潜在因素联系起来的测量模型的调查。在分组变量(如性别或环境暴露)之间缺乏测量不变性是指相对于测量模型的组差异。研究表明，如果单个项目是非不变的，则将总和分数分解为遗传和环境方差成分会导致加性遗传因素的路径系数在群体之间存在差异。当性别为分组变量时，所产生的组间通径系数差异与所谓的“标量性别限制”相同，或者当环境暴露为分组变量时，与所谓的“基因-环境相互作用”相同。在这两种情况下，解释都是根据遗传因素的群体特定效应大小。如果个别项目是非不变的，这种解释可能是不正确的。

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