LIS1和TSNAX基因与中国汉族人群双相障碍Ⅰ型的关联研究  

Association study of LIS1 and TSNAX genes with biploar disoader in Chinese Han population

作　　者：李烜[1] 关力杰[1] 林鄞[1] 张晓菲[1] 邓文皓[1] 杨振兴[2] 马小红[2] 老帼慧[1] 叶碧瑜[1] 黄伟杰[1] 蒋泽宇[1] 苗国栋[1] 徐贵云[1] 刘文滔[1] 王英成[2] 李涛[2] 曹莉萍[1] 

机构地区：[1]广州市脑科医院早期干预科(广州医科大学附属脑科医院),510370 [2]四川大学华西医院心理卫生中心

出　　处：《中华医学遗传学杂志》2014年第3期357-361,共5页Chinese Journal of Medical Genetics

基　　金：广州市医药卫生科技项目（20121A011092、20131A011089）

摘　　要：目的探讨双相障碍Ⅰ型与神经发育相关的LIS1基因和TSNAX基因的关系。方法应用Goldengate基因芯片检测385例双相障碍I型患者以及475名正常对照LIS1基因（rsl2938775、rs7216704、rs7212450、rs8081803、rs9893575）和TSNAX基因（rsl2040246、rsl655290、rsl6854521、rsl7802224、rs7519365）的10个单核苷酸多态性（singlenucleotidepolymorphisms，SNPs）位点，用Plinkl．07软件进行单个位点及单倍型的关联分析。结果单个位点的关联分析和单倍型分析，均未见双相障碍Ⅰ型与LISl和TSNAX基因的10个SNPs关联（P〉O．05）。将患者按有和无精神病性症状分亚组后分析，也未见有和无精神病性症状的双相障碍与两个基因的多态性关联（P〉0．05）。性别分层后比较，也未见LIS1和TSNAX基因多态性与双相障碍关联（P〉0．05）。未发现LIS1和TSNAX基因多态性与双相障碍发病年龄存在关联（P〉0．05）。结论在中国汉族人群中未发现LIS1和TSNAX基因与双相障碍Ⅰ型有关联性。Objective To assess the association of neural development-related genes LIS1 and TSNAX with bipolar I disorder in a Chinese Han population. Methods Three hundred and eight five patients （including 188 males and 197 females） from Guangzhou Brain Hospital with bipolar I disorder meeting the Diagnostic and Statistic Manual of Bipolar I Disorder （BD-I） （Fourth Edition） criteria and 475 healthy controls from the local community were recruited. Ten single nucleotide polymorphisms （SNPs） of the LIS1 and TSNAX genes were genotyped by GoldenGate genotyping assay on an Illumina Beadstation 500 machine. Association analyses of SNPs and haplotypes were performed with Plink 1.07 software. Results Analysis of the total sample has failed to find any association of SNP or haplotype of the two genes with BD- I （P〉0.05）. When patients were divided into subgroups with or without psychotic symptom, no significant association of the two genes was found with psychotic BD-I or non-psychotic BD-I （P 〉 0. 05）. No significant association was found between any SNP or haplotype of two genes and female BD-I or male BD-I, nor were significant association found between age of onset and LIS1 and TSNAX gene polymorphisms. Conclusion Our results indicated that LIS1 and TSNAX genes are not associated with susceptibility to bipolar I disorder in Chinese Han population.

关 键 词：双相障碍Ⅰ型 神经发育 LIS1基因 TSNAX基因 

分 类 号：R749.4[医药卫生—神经病学与精神病学]