SCN1A基因多态性与全面性癫痫伴热性惊厥附加症临床表型的关系

Relationship between SCN1A gene polymorphism and clinical phenotype of generalized epilepsy with febrile seizures plus

目的探讨SCN1A基因rs3812718位点单核苷酸多态性(SNP)与全面性癫痫伴热性惊厥附加症(GEFS+)临床表型间的相关性。方法选择2015年5月至2017年9月符合GEFS+诊断标准的患儿50例(观察组),选择体检正常健康儿童50例作为对照组。应用Mass ARRAY质谱分析技术检测SCN1A基因rs3812718位点的基因多态性,并收集GEFS+患儿的临床资料包括家系情况、起病年龄、发作类型、头颅影像学资料及脑电图检查结果。结果观察组患儿的SCN1A基因rs3812718位点的基因型(CC、CT、TT)分布与对照组相比差异有统计意义(P<0.01),且等位基因(C、T)频率差异亦存在统计学意义(P<0.01),提示T等位基因为GEFS+的风险因子。SCN1A rs3812718位点TT基因型的患儿热性惊厥(FS)及热性惊厥附加症(FS+)表型、早起病及阳性家族史的比例均高于CC+CT型患儿,差异具有统计学意义(P均<0.05)。rs3812718位点基因多态性与头颅影像学异常、脑电图异常等无关(P均>0.05)。结论 SCN1A基因的rs3812718位点多态性与GEFS+的易感性及部分临床表型有关,T等位基因为GEFS+患儿发病的风险因子。

Objective To explore the clinical relationship between SCN1A gene rs3812718 locus single nucleotide polymorphism（ SNP） and clinical phenotype of generalized epilepsy with febrile seizures plus（ GEFS ＋）. Methods Fifty children conformed with the diagnostic criteria of GEFS ＋（ observation group） and 50 healthy children for physical examination（ control group） were selected. Mass ARRAY mass spectrometry analysis technique was used to detect SCN1A rs3812718 locus gene polymorphisms. The clinical data including family situation,age of onset,seizure type,cranial imaging data and electroencephalogram（ EEG） finding were collected. Results There was significant difference in genotype（ CC,CT,TT） distribution of SCN1A rs3812718 locus between observation group and control group（ P〈0. 01）,and there also was significant difference in the allele（ C,T） frequency between observation group and control group（ P〈0. 01）,indicating that the allele T was a risk factor of GEFS ＋. The proportions of phenotype of febrile seizure（ FS） and febrile seizure plus（ FS ＋）,early onset and positive family history in children with TT genotype at SNP rs3812718 locus were all higher than those in children with CC ＋ CT genotypes（ all P〈0. 05）. The rs3812718 locus gene polymorphism was not correlated with cranial imaging abnormality and EEG abnormality（ all P〉0. 05）. Conclusion SCN1A rs3812718 locus gene polymorphism is correlated with susceptibility of GEFS ＋ and partial clinical phenotype,and allele T is a risk factor of onset for GEFS ＋ patients.