Are generalized and localization-related epilepsies genetically distinct?
Are generalized and localization-related epilepsies genetically distinct?
复制标题
DOI：
10.1001/archneur.55.3.339
复制
发表时间：
1998-03-01
影响因子：
--
通讯作者：
Risch, N
中科院分区：
文献类型：
--
作者：
Ottman, R;Lee, JH;Risch, N
背景资料：遗传因素对全身性癫痫和局部性癫痫的影响是否不同，或者某些易感基因是否增加了这两种类型癫痫的风险，目前尚不确定。目的：评价癫痫的遗传异质性。我们使用考克斯比例风险分析来计算第一组中全身性和局部相关的特发性或隐源性癫痫的率比（RR）。1498例自发性或隐源性癫痫成年先证者的一级亲属。参考组包括一级亲属的362先证者从同一项研究与出生后症状性癫痫的遗传贡献似乎是minimal.Results：在父母和兄弟姐妹，所有特发性或隐源性癫痫的风险是更大的，如果先证者的癫痫是广义的，如果它是本地化相关的（RR，4.7比2.4）。然而，在每组先证者的父母和兄弟姐妹中，增加的风险并不限于与先证者相同类型的癫痫。结果在后代中有所不同，如果先证者的癫痫是局部相关的，则其患所有类型癫痫的风险都高于全身性癫痫（RR，4.2 vs 1.6），局部相关性癫痫的风险高于全身性癫痫（RR，7.8比1.8），如果先证者的癫痫是局部相关的。在父母和兄弟姐妹中的这些发现表明，一些易感基因型增加了全身性癫痫和局部相关癫痫的风险，但在全身性癫痫患者中更常见。在后代中的不同发现可能反映了该亚组对易感性的不同影响。
Background: Whether the genetic influences are distinct for generalized and localization-related epilepsies or whether some susceptibility genes raise the risk for both types of epilepsy is uncertain.Objective: To evaluate genetic heterogeneity in epilepsy.Methods: We used Cox proportional hazards analysis to compute rate ratios (RRs) for generalized and localization-related idiopathic or cryptogenic epilepsy in the first-degree relatives of 1498 adult probands with idiopathic or cryptogenic epilepsy ascertained from voluntary organizations. The reference group comprised the first-degree relatives of 362 probands from the same study with postnatal symptomatic epilepsy in whom the genetic contributions appear to be minimal.Results: In the parents and siblings, the risk for all idiopathic or cryptogenic epilepsy was greater if the proband's epilepsy was generalized than if it was localization-related (RR, 4.7 vs 2.4). However, in the parents and siblings of each group of probands, the increased risk was not restricted to the same type of epilepsy as in the proband. The results differed in offspring, with a greater risk for all types of epilepsy if the proband's epilepsy was localization-related than if it was generalized (RR, 4.2 vs 1.6) and a greater risk for localization-related epilepsy than for generalized epilepsy (RR, 7.8 vs 1.8) if the proband's epilepsy was localization-related.Conclusions: These findings in parents and siblings suggest that some susceptibility genotypes raise the risk for both generalized and localization-related epilepsies but are more common in persons affected with generalized epilepsy. The different findings in offspring may reflect a different influence on susceptibility in that subgroup.