Ottman R, Lee J H, Hauser W A, Risch N
G. H. Sergievsky Center and School of Public Health (Epidemiology Division), Columbia University, New York, NY 10032, USA.
Arch Neurol. 1998 Mar;55(3):339-44. doi: 10.1001/archneur.55.3.339.
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.
To evaluate genetic heterogeneity in epilepsy.
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.
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.
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.
基因影响对于全身性癫痫和局灶性癫痫是否不同，或者某些易感基因是否会增加这两种类型癫痫的风险尚不确定。
评估癫痫的基因异质性。
我们使用Cox比例风险分析来计算1498名患有特发性或隐源性癫痫的成年先证者的一级亲属中全身性和局灶性特发性或隐源性癫痫的发病率比（RRs）。这些先证者是从志愿组织中确定的。对照组包括来自同一研究的362名产后症状性癫痫先证者的一级亲属，在这些患者中，基因贡献似乎最小。
在父母和兄弟姐妹中，先证者的癫痫为全身性时，所有特发性或隐源性癫痫的风险比癫痫为局灶性时更高（RR，4.7对2.4）。然而，在每组先证者的父母和兄弟姐妹中，增加的风险并不局限于与先证者相同类型的癫痫。后代的结果有所不同，先证者的癫痫为局灶性时，所有类型癫痫的风险比癫痫为全身性时更高（RR，4.2对1.6），并且如果先证者的癫痫为局灶性，局灶性癫痫的风险比全身性癫痫更高（RR，7.8对1.8）。
父母和兄弟姐妹中的这些发现表明，一些易感基因型会增加全身性和局灶性癫痫的风险，但在全身性癫痫患者中更为常见。后代的不同发现可能反映了该亚组中对易感性的不同影响。
