Miller L L, Pellock J M, DeLorenzo R J, Meyer J M, Corey L A
Department of Human Genetics, Virginia Commonwealth University-Medical College of Virginia 23298-0003, USA.
Genet Epidemiol. 1998;15(1):33-49. doi: 10.1002/(SICI)1098-2272(1998)15:1<33::AID-GEPI3>3.0.CO;2-5.
The purpose of this study was to examine the roles of genetic and environmental factors in the etiology of epilepsy and seizures in twins ascertained from the Virginia Twin Registry. Health history information on twins was collected by questionnaire. Concordance rates were calculated and used to estimate degree of concordance for seizure types in monozygotic (MZ) and dizygotic (DZ) twin pairs. Univariate twin analyses were performed for each epilepsy and seizure type to determine models which best explained observed variation. Health history information concerning epilepsy and febrile seizure occurrences was provided by members of 8,655 twin pairs; 6,684 of these supplied additional information reporting absence, complex partial, tonic-clonic, and unspecified seizures. Models including additive genetic and unique environmental factors best explained febrile seizures, epilepsy, complex partial seizures, and unspecified seizures. For complex partial seizures, however, the contributions of genetic and environmental effects did not vary across gender. These results show that, under univariate analysis methods, genetic factors played an important role in the expression of seizures in epilepsy, febrile seizures, unspecified seizures, and complex partial seizures. Additional support for these findings was provided by the concordance results for all categories except male twins reporting complex partial seizure occurrence. However, environmental influences still remained an important factor in seizure expression in these specific categories.
本研究的目的是调查从弗吉尼亚双胞胎登记处确定的双胞胎中，遗传和环境因素在癫痫及发作病因学中的作用。通过问卷调查收集双胞胎的健康史信息。计算一致性比率，并用于估计同卵（MZ）和异卵（DZ）双胞胎对中发作类型的一致程度。对每种癫痫和发作类型进行单变量双胞胎分析，以确定最能解释观察到的变异的模型。8655对双胞胎成员提供了有关癫痫和热性惊厥发生情况的健康史信息；其中6684对提供了额外信息，报告了无发作、复杂部分性发作、强直阵挛性发作和未明确的发作。包括加性遗传和独特环境因素的模型最能解释热性惊厥、癫痫、复杂部分性发作和未明确的发作。然而，对于复杂部分性发作，遗传和环境效应的贡献在不同性别之间没有差异。这些结果表明，在单变量分析方法下，遗传因素在癫痫、热性惊厥、未明确的发作和复杂部分性发作的发作表达中起重要作用。除报告发生复杂部分性发作的男性双胞胎外，所有类别的一致性结果为这些发现提供了额外支持。然而，环境影响在这些特定类别中的发作表达中仍然是一个重要因素。
