家族性热性惊厥儿童中筛选用于连锁分析分组的表型特征

Screening of Phenotypic Features for Grouping during Linkage Analysis in Children with Familial Febrile Seizures

目的探索能够减低热性惊厥(febrilesezuresFS)病例遗传异质性的表现型特点以增加连锁分析的有效性。方法127例父亲或/和母亲儿童期的热性惊厥史的FS儿童作为病例组,152例父亲和/或母亲儿童期没有热性惊厥病史的热性惊厥儿童作为对照组,用非配对病例对照研究来分析病例组和对照组表型特点的相关性。结果FS儿童中男女比例为1·46∶1。复发性FS(FS发作次数≥2次)与父母FS史的相关性有统计学意义。病例组和对照组FS复发风险无明显差异;用性别和无热惊厥等因素修正后FS首次发作年龄≥36月是FS复发独立危险因子。FS后出现无热惊厥也与复发性FS独立相关,而且其危险度高于有FS家族史者。结论FS复发、FS伴无热惊厥和首次发作年龄≥36月作为遗传连锁分析中分组的筛选标准,对降低遗传研究中的异质性有重要意义。

Objective To explore the phenotypic features that can reduce genetic heterogeneity of children with febrile seizures （FS） as to increase the effectiveness of linkage analysis. Methods The study involved 127 children whose father or mother ever suffered from FS in childhood as the case group, and 152 children whose parents didn＇t as the control group. The unmatched case-control design was applied to study the association between phenotypic features and parental history of FS. Results The sex ratio （boys： glds） of children with FS was 1,46： 1. Relationship between recurrent FS （recurrent number ≥2） and parental history of FS had statistical significance. Significant difference could not be found in recurrent risk between the case group and control group. After adjustment for age and sex, age over 36 months when the first attack cecurred was an independent risk factor of FS recurrence. The appearance of afebrile seizures after FS was also independently associated with FS recurrence, and its risk ratio was higher than familial FS history. Conclusions FS recurrence, afebrile seizures and age over 36 months when the first attack occurred can be used as screening standard in grouping during the linkage analysis, which will be of great significance to reduce the genetic heterogeneity.