A likelihood model that accounts for censoring due to fetal loss can accurately test the effects of maternal and fetal genotype on the probability of miscarriage.
A likelihood model that accounts for censoring due to fetal loss can accurately test the effects of maternal and fetal genotype on the probability of miscarriage.
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DOI：
10.1159/000164399
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发表时间：
2009
期刊：
影响因子：
1.8
通讯作者：
Glueck DH
中科院分区：
文献类型：
--
作者：
O'Donnell CI;Glueck CJ;Fingerlin TE;Glueck DH
遗传性母婴血栓形成和/或纤溶功能低下是流产的重要原因。在只有在活产后才能观察到胎儿基因的约束下，估计风险是复杂的。审查制度阻止使用已发表的统计方法。我们提出了一些技术来确定流产增加是由于胎儿基因、母体基因，还是两者兼而有之。我们建议进行一项研究，以评估以显性或隐性方式表达的等位基因导致流产的风险。利用多项式似然法，我们得到了不同基因型人群的风险的最大似然估计。我们描述了似然比检验和计划中的假设检验策略。参数估计准确(偏差0.0011，均方根误差0.0780，n=500)。我们使用模拟来评估三个基因突变的研究能力：纤溶酶原激活物抑制基因(PAI-1)的4G纤溶低下突变、凝血酶原G20210A突变和因子V Leiden突变。在500个家庭中，我们的方法大约有90%的能力检测到0.2的流产率增加，高于0.2的本底流产率。我们的统计方法可以确定流产增加是由于胎儿基因、母体基因，还是两者兼而有之。
Heritable maternal and fetal thrombophilia and/or hypofibrinolysis are important causes of miscarriage. Under the constraint that fetal genotype is observed only after a live birth, estimating risk is complicated. Censoring prevents use of published statistical methodology. We propose techniques to determine whether increases in miscarriage are due to the fetal genotype, maternal genotype, or both. We propose a study to estimate the risk of miscarriage contributed by an allele, expressed in either dominant or recessive fashion. Using a multinomial likelihood, we derive maximum likelihood estimates of risk for different genotype groups. We describe likelihood ratio tests and a planned hypothesis testing strategy. Parameter estimation is accurate (bias < 0.0011, root mean squared error <0.0780, n = 500). We used simulation to estimate power for studies of three gene mutations: the 4G hypofibrinolytic mutation in the plasminogen activator inhibitor gene (PAI-1), the prothrombin G20210A mutation, and the Factor V Leiden mutation. With 500 families, our methods have approximately 90% power to detect an increase in the miscarriage rate of 0.2, above a background rate of 0.2. Our statistical method can determine whether increases in miscarriage are due to fetal genotype, maternal genotype, or both despite censoring.
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DOI：
10.1111/j.1600-0897.2006.00376.x
发表时间：
2006-05-01
影响因子：
3.6
作者：
Coulam, CB;Jeyendran, RS;Roussev, R
通讯作者：
Roussev, R
DOI：
10.1016/s0002-9378(97)70205-9
发表时间：
1997-08-01
影响因子：
9.8
作者：
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影响因子：
9.8
作者：
Glueck, CJ;Wang, P;Sieve, L
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影响因子：
8.7
作者：
Margaglione, M;Cappucci, G;Di Minno, G
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Di Minno, G
影响因子：
9.8
作者：
Glueck, CJ;Pranikoff, J;Wang, P
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Wang, P