粘着斑激酶与整合素β1基因多态性与癫痫的关联研究  

Correlations of focal adhesion kinase and integrin β1 gene single nucleotide polymorphisms with epilepsy

作　　者：连霞 石鹤坤[1] 陈沭 曾莉莉[1] 费燕[1] Lian Xia;Shi Hekun;Chen Shu;Zeng Lili;Fei Yan(Department of Pharmacy,The 909^th Hospital of Chinese People's Liberation Army (Southeast Hospital Affiliated to Xiamen University),Zhangzhou 363000,China)

机构地区：[1]解放军第九○九医院/厦门大学附属东南医院药学科,漳州363000

出　　处：《中华神经医学杂志》2019年第1期39-43,共5页Chinese Journal of Neuromedicine

基　　金：漳州市自然科学基金(ZZ2017J41);解放军第九○九医院苗圃基金(17Y023).

摘　　要：目的 探讨粘着斑激酶(FAK)和整合素β1(ITG β1)单核苷酸基因多态性(SNP)在癫痫发病中的影响。 方法 选择自2017年1月至2018年5月在厦门大学附属东南医院进行体检的167例健康人员(正常组)及监测丙戊酸钠血药浓度的163例癫痫患者(癫痫组)进入研究。采集2组受试者外周血,采用Sequenom Mass Array法对其FAK基因rs7460、rs10100025、rs7843014、rs306954位点及ITG β1基因rs2230395、rs2298141、rs2230394、rs35016806位点进行基因型分析及统计学比较。采用Logistic回归分析明确各位点基因型对癫痫发病的影响。 结果 8个位点均符合Hardy-Weinberg平衡。FAK基因rs7843014位点在正常组和癫痫组间的分布频率差异有统计学意义(P<0.05)。Logistic回归分析结果显示FAK基因rs7843014位点有致癫痫作用(OR= 1.676,L95= 1.100,P=0.012)。 结论 FAK基因rs7843014位点突变是癫痫致病的独立危险因素。Objective To analyze the influence of single nucleotide polymorphisms (SNPs) of focal adhesion kinase (FAK) and integrin β1 (ITG β1) in epilepsy seizures. Methods The clinical data were collected from 330 participants (163 epilepsy patientss and 167 normal controls) from January 2017 to May 2018. Peripheral blood was extracted from these patients. The SNPs of FAK genotypes (rs7460, rs10100025, rs7843014, and rs306954) and ITGβ1 genotypes (rs2230395, rs2298141, rs2230394, and rs35016806) were detected by Sequenom MassArray. Logistic regression analysis was used to determine the influence of genotype at each locus in onset of epilepsy. Results The distribution of the 8 genotypes mentioned above accorded with Hardy-Weinberg Equilibrium. There was significant difference in the frequency distribution of FAK genotype rs7843014 between the epilepsy group and normal group (P<0.05). Logistic regression analysis of FAK genotype rs7843014 could cause epilepsy (OR=1.676, L95=1.100, and P=0.012). Conclusion The mutation of FAK genotype rs7843014 may be one of the risk factors of epilepsy.

关 键 词：粘着斑激酶 整合素Β1 基因多态性 癫痫 

分 类 号：R742.1[医药卫生—神经病学与精神病学]