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Familial monozygotic twinning: report of an extended multi-generation family. 家族同卵双胞胎:一个扩展多代家族的报告。
Pub Date : 2004-06-01 DOI: 10.1375/136905204774200479
Hanan A Hamamy, Heitham K Ajlouni, Kamel M Ajlouni

Thirteen sets of monozygotic (MZ) twins from an extended multi-generation family are reported. Zygosity was determined by interviewing families for overall physical similarity and by assessment of facial photographs. A hypothetical gene was traced back five generations to a common grandfather. Familial monozygotic twinning in this pedigree is compatible with autosomal dominant inheritance with reduced penetrance. Other plausible mechanisms of inheritance are discussed.

本文报道了来自一个扩展多代家族的13对同卵(MZ)双胞胎。合子性是通过对家庭的总体身体相似性和面部照片的评估来确定的。一个假设的基因可以追溯到五代人的共同祖父。家族性同卵双胞胎与外显率降低的常染色体显性遗传相容。本文还讨论了其他合理的继承机制。
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引用次数: 14
Trends in triplet stillbirth rates in Japan, 1975-1998. 1975-1998年日本三胞胎死产率趋势。
Pub Date : 2004-06-01 DOI: 10.1375/136905204774200505
Yoko Imaizumi, Koichi Nonaka

Stillbirth rates of triplet births in the whole of Japan were analyzed using vital statistics from 1975 to 1998. Stillbirths were registered at 12 weeks gestation or later. The stillbirth rate was significantly higher in like- than in unlike-sex triplets for 1975-1998. During the 23-year period the stillbirth rate decreased from 342 to 49 per 1000 total births for like-sex and from 195 to 54 for unlike-sex triplets. The decrease in the stillbirth rate in the 23- year period was greater in both like- and unlike-sex triplets than in singleton and twin births. Risk factors for stillbirth in triplets were like-sex, youngest or oldest maternal age groups, shorter gestational age and lower birthweight. It is recommended that the optimum period to give birth for triplet pregnancies is 34-35 weeks of gestation for Japanese women.

用生命统计方法分析了1975年至1998年全日本三胞胎的死产率。死产记录在妊娠12周或更晚。1975-1998年间,同性三胞胎的死产率明显高于异性三胞胎。在23年期间,性别相同的三胞胎死产率从每1000例分娩342例下降到49例,性别不同的三胞胎死产率从195例下降到54例。在23年的时间里,与单胎和双胞胎相比,性别相同和性别不同的三胞胎死产率的下降幅度都更大。三胞胎死产的危险因素包括性别、产妇年龄最小或最大、胎龄较短和出生体重较低。建议日本女性三胞胎的最佳生育期为妊娠34-35周。
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引用次数: 0
Zygosity Misclassification of Twins at Birth in Japan 日本出生双胞胎的合子性错误分类
S. Ooki, Y. Yokoyama, A. Asaka
Abstract Though twinning rates have been rapidly increasing in Japan, the problem of zygosity misclassification at birth has been paid little attention. By analyzing four independent samples, the authors found that at a constant rate about 25–30% of monozygotic twins were misclassified as dizygotic twins at birth. This percentage is in very good accordance with that of monozygotic twins having dizygous placenta. Generally the obstetricians informed twins' parents about their children's zygosity. The number of placentas, as informed by obstetricians, was very strongly associated with zygosity. Concluding, even now many monozygotic twins in Japan may be misclassified as dizygotic at birth by obstetricians based solely on the number of placenta.
摘要虽然日本的双胞胎率迅速上升,但出生时的合子错误分类问题却很少受到重视。通过分析四个独立的样本,作者发现,以恒定的速率,约25-30%的同卵双胞胎在出生时被误认为是异卵双胞胎。这一比例与异卵胎盘的同卵双胞胎非常一致。一般来说,产科医生会把孩子的合子性告知双胞胎的父母。由产科医生告知的胎盘数量与合子密切相关。结论是,即使现在日本的许多同卵双胞胎在出生时也可能被产科医生仅仅根据胎盘的数量错误地归类为异卵双胞胎。
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引用次数: 19
Causal Models of Reading Disability: A Twin Study 阅读障碍的因果模型:一项双胞胎研究
Rolando D Tiu, S. Wadsworth, R. Olson, J. Defries
Abstract The genetic and environmental relationships among measures of phoneme awareness, naming speed, Intelligence Quotient (IQ), and reading performance were investigated in 623 identical and fraternal twin pairs tested in the Colorado Learning Disabilities Research Center. A Cholesky decomposition analysis of these measures provided evidence supporting the double deficit hypothesis that difficulties in phonological processing and naming speed both contribute to reading disability. Additionally, the model revealed marginally significant genetic and significant non-shared environmental relationships between IQ and reading independent of naming speed and phoneme awareness. Thus a more complete causal model of reading disability should include IQ as well as measures of phonological processing and naming speed.
研究了623对来自科罗拉多学习障碍研究中心的同卵双胞胎和异卵双胞胎的音素意识、命名速度、智商和阅读能力之间的遗传和环境关系。对这些指标的Cholesky分解分析提供了支持双缺陷假说的证据,即语音加工困难和命名速度都是导致阅读障碍的原因。此外,该模型还揭示了智商与阅读之间存在显著的遗传关系和显著的非共享环境关系,这些关系与命名速度和音素意识无关。因此,一个更完整的阅读障碍因果模型应该包括智商以及语音加工和命名速度的测量。
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引用次数: 17
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
G. Lubke, C. Dolan, M. Neale
Abstract 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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引用次数: 1
Alternate parameterization for scalar and non-scalar sex-limitation models in Mx. Mx中标量和非标量性别限制模型的交替参数化。
Pub Date : 2004-06-01 DOI: 10.1375/136905204774200587
Sarah E Medland

The purpose of this article is to present alternative parameterizations of scalar and non-scalar sexlimitation models in the Mx matrix algebra program (Neale et al., 2002). These models are designed for use with extended pedigrees and take advantage of the dynamic treatment of covariates within Mx. Example scripts are provided.

本文的目的是介绍Mx矩阵代数程序中标量和非标量性限制模型的可选参数化(Neale et al., 2002)。这些模型设计用于扩展谱系,并利用Mx内协变量的动态处理。提供了示例脚本。
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引用次数: 0
Otitis Media: Genetic Factors and Sex Differences 中耳炎:遗传因素和性别差异
E. Kvestad, K. Kvaerner, E. Røysamb, K. Tambs, J. Harris, P. Magnus
Abstract Although genetic factors are recognised as major contributors to otitis media, the presence of sex differences in heritability needs clarification. The aim of this study was to estimate the relative contribution of genetic and environmental effects in otitis media liability with particular focus on sex differences. Data from a cohort of Norwegian twins born between 1967 and 1979 with repeated measures on recurrent childhood otitis media were analysed. Altogether the sample included 4247 twin pairs. The tetrachoric correlations for monozygotic twins were .71 and .65 for males and females respectively. In dizygotic twins the correlations were .35 and .25 for males and females, respectively, and was .34 in opposite sexed pairs. The contribution of genetic and environmental effects was analyzed using structural equation modeling. The best fitting model showed that additive genetic effects explained 72% and 61% of the variance in males and females, respectively. The remaining variance was attributed to individual environmental effects. A model specifying equal heritability estimates for males and females yielded an almost equivalent fit. We found substantial genetic effects for liability to otitis media. There is no evidence that different sets of genes influence liability in males and females, but there may be sex differences in the relative importance of genetic effects.
虽然遗传因素被认为是中耳炎的主要因素,但存在遗传性的性别差异需要澄清。本研究的目的是估计遗传和环境影响对中耳炎的相对贡献,并特别关注性别差异。对1967年至1979年间出生的挪威双胞胎的数据进行了分析,这些双胞胎对复发性儿童中耳炎进行了反复测量。总共包括4247对双胞胎。同卵双胞胎的四分频相关系数分别为0.71和0.65。在异卵双胞胎中,男性和女性的相关系数分别为0.35和0.25,异性的相关系数为0.34。利用结构方程模型分析了遗传效应和环境效应的贡献。最佳拟合模型显示,加性遗传效应分别解释了雄性和雌性变异的72%和61%。其余的差异归因于个体环境的影响。一个对男性和女性的遗传率估计相同的模型产生了几乎相等的拟合。我们发现对中耳炎的易感性有很大的遗传影响。没有证据表明不同的基因组影响男性和女性的责任,但遗传影响的相对重要性可能存在性别差异。
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引用次数: 38
The risk of birth defects in dichorionic twins conceived by assisted reproductive technology. 辅助生殖技术孕育的双绒毛膜双胞胎出生缺陷的风险。
Pub Date : 2004-06-01 DOI: 10.1375/136905204774200488
Tomoyuki Kuwata, Shigeki Matsubara, Akihide Ohkuchi, Takashi Watanabe, Akio Izumi, Yoko Honma, Yukari Yada, Hiroaki Shibahara, Mitsuaki Suzuki

The purpose of this study was to examine whether dichorionic twins conceived by assisted reproductive technology (ART; intracytoplasmic sperm injection [ICSI], in vitro fertilization [IVF], gamete-intrafallopian tube transfer [GIFT]) have a higher risk of birth defects compared to dichorionic twins conceived naturally. We reviewed the medical records of 406 mothers with dichorionic twin pregnancies, who received continuous antenatal care from < or = 20 weeks of gestation and gave birth to infants after > or = 24 weeks of gestation in our institute. Birth defects were diagnosed at the time of hospital discharge according to the International Classification of Diseases, 10th Revision. Occurrence of birth defects was compared between twins conceived by ART and those conceived naturally using logistic regression analysis. Overall, 51 of 812 infants (51/812 = 6.2%) had birth defects. The incidence of birth defects in ART-conceived twins was significantly higher than that of naturally conceived twins with an odds ratio of 6.9 (95% confidence interval [CI] 2.1, 22.5), 3.7 (95% CI 1.2, 12.0), and 4.3 (95% CI 1.4, 14.3) for ICSI, IVF, and GIFT, respectively. The higher frequency of birth defects in ART-conceived twins was still significant after adjusting for higher maternal age in the ART group, with an adjusted odds ratio of 6.7 (95% CI 2.1, 21.9), 3.6 (95% CI 1.1, 11.5), and 3.7 (95% CI 1.2-11.8) for ICSI, IVF, and GIFT, respectively. Dichorionic twins conceived by ART, compared to dichorionic twins conceived naturally, had a much higher risk for birth defects diagnosed at hospital discharge.

本研究的目的是检查辅助生殖技术(ART)是否孕育了双绒毛膜双胞胎;与自然受孕的双绒毛膜双胞胎相比,胞浆内单精子注射(ICSI)、体外受精(IVF)、配子-输卵管内移植(GIFT)有更高的出生缺陷风险。我们回顾了406例双绒毛膜双胎妊娠母亲的医疗记录,这些母亲从妊娠<或= 20周开始接受持续的产前护理,并在妊娠>或= 24周后分娩婴儿。出院时根据《国际疾病分类》第十版诊断出生缺陷。采用logistic回归分析比较人工受精与自然受孕双胞胎出生缺陷的发生率。总的来说,812名婴儿中有51名(51/812 = 6.2%)有出生缺陷。IVF、ICSI和GIFT的出生缺陷发生率显著高于自然受孕的双胞胎,比值比分别为6.9(95%可信区间[CI] 2.1, 22.5)、3.7 (95% CI 1.2, 12.0)和4.3 (95% CI 1.4, 14.3)。在对ART组中较高的母亲年龄进行校正后,ART妊娠双胞胎的出生缺陷发生率较高,ICSI、IVF和GIFT的校正优势比分别为6.7 (95% CI 2.1, 21.9)、3.6 (95% CI 1.1, 11.5)和3.7 (95% CI 1.2-11.8)。与自然受孕的双绒毛膜双胞胎相比,通过ART受孕的双绒毛膜双胞胎在出院时被诊断出出生缺陷的风险要高得多。
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引用次数: 19
The Contribution of Risk Factors to Blood Pressure Heritability Estimates in Young Adults: The East Flanders Prospective Twin Study 风险因素对年轻人血压遗传力估计的贡献:东弗兰德斯前瞻性双胞胎研究
M. Zeegers, F. Rijsdijk, P. Sham, R. Fagard, M. Gielen, P. Leeuw, R. Vlietinck
Abstract The heritability of blood pressure estimated in previous studies may be confounded by the influence of potential blood pressure risk factors. We applied the classical twin design to estimate the contribution of these covariates to blood pressure heritability. The study consisted of 173 dizygotic and 251 monozygotic twin pairs aged 18–34 years, randomly selected from the East Flanders Prospective Twin Survey. In a standardized examination, blood pressure and anthropometry was measured, a questionnaire was completed, and a fasting blood sample was taken. In univariate and bivariate modeling, diastolic and systolic heritability were estimated both unadjusted and adjusted for potential risk factors. Also, covariate interaction was modeled. Bivariate analysis gave heritability estimates of 0.63 (95%CI 0.55–0.59), 0.74 (95%CI: 0.68–0.79), and 0.78 (95%CI: 0.70–0.84) for diastolic, systolic, and cross-trait heritability, respectively. The remaining variances could be attributed to unique environmental influences. These heritability estimates did not change substantially in univariate analyses or after adjustment for risk factors. A sex-limitation model showed that the heritability estimates for women were significantly higher than for men, but the same genetic factors were operating across sexes. Sex and cigarette smoking appeared to be statistically significant interaction terms. The heritability of blood pressure is relatively high in young adults. Potential risk factors of blood pressure do not appear to confound the heritability estimates. However, gene by sex by smoking interaction is indicated.
以往研究估计的血压遗传力可能会受到潜在血压危险因素的影响。我们应用经典的双胞胎设计来估计这些协变量对血压遗传性的贡献。该研究包括173对18-34岁的异卵双胞胎和251对同卵双胞胎,他们是从东弗兰德斯前瞻性双胞胎调查中随机选择的。在标准化检查中,测量血压和人体测量,完成问卷调查,并采集空腹血样。在单因素和双因素建模中,对未调整和调整潜在危险因素的舒张和收缩遗传性进行了估计。此外,还对协变量相互作用进行了建模。双变量分析给出的舒张、收缩和跨性状遗传率分别为0.63 (95%CI: 0.55-0.59)、0.74 (95%CI: 0.68-0.79)和0.78 (95%CI: 0.70-0.84)。其余的差异可归因于独特的环境影响。在单变量分析或调整风险因素后,这些遗传率估计没有实质性变化。性别限制模型显示,女性的遗传率估计明显高于男性,但同样的遗传因素在性别之间起作用。性和吸烟似乎是统计上显著的相互作用项。在年轻人中,血压的遗传性相对较高。血压的潜在危险因素似乎不会混淆遗传力估计。然而,基因与性别和吸烟的相互作用表明。
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引用次数: 0
Alternate Parameterization for Scalar and Non-scalar Sex-limitation Models in Mx Mx中标量和非标量性别限制模型的交替参数化
S. Medland
Abstract The purpose of this article is to present alternative parameterizations of scalar and non-scalar sex-limitation models in the Mx matrix algebra program (Neale et al., 2002). These models are designed for use with extended pedigrees and take advantage of the dynamic treatment of covariates within Mx. Example scripts are provided.
本文的目的是提出Mx矩阵代数程序中标量和非标量性别限制模型的可选参数化(Neale et al., 2002)。这些模型设计用于扩展谱系,并利用Mx内协变量的动态处理。提供了示例脚本。
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引用次数: 22
期刊
Twin research : the official journal of the International Society for Twin Studies
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