NEDD4基因单核苷酸多态性与精神分裂症及其临床特征的相关性  

Association of NEDI4 gene polymorphisms with schizophrenia and its clinical characteristics in Chinese Han population

作　　者：毕晓姣 崔开艳[2] 韩超[1] 孙萌萌[2] 王丽娜[2] 杨丽敏[2] 乔冬冬[2] 韩雯雯[1] 刘兰芬[2] 

机构地区：[1]山东大学医学院,济南250012 [2]山东省精神卫生中心

出　　处：《中华医学遗传学杂志》2015年第3期385-390,共6页Chinese Journal of Medical Genetics

摘　　要：目的 探讨神经前体细胞表达发育进行性下调基因4 （neural precursor cell expressed developmentally down-regulated 4,NEDD45个单核苷酸多态性（single nucleotide polymorphisms,SNPs）位点与精神分裂症及其临床症状的相关性.方法 通过TaqMan探针法对464例精神分裂症患者及487名正常对照的SNPs位点进行基因分型;使用自制的一般资料调查表收集一般人口学资料,以阳性与阴性症状量表评定精神分裂症患者的精神病性症状特点及其严重程度.结果 病例组及对照组在rs3088077（等位基因：x2=18.024,P=0.000;基因型：x2=16.634,P=0.000）、rs7162435（等位基因：x2=6.771,P=0.009;基因型：x2=7.352,P=0.025）及rs2303579（等位基因：x2=11.253,P=0.001;基因型：x2=12.248,P=0.002）3个SNPs位点的等位基因频率及基因型频率分布的差异均有统计学意义;rs7162435的TT基因型在阳性与阴性症状量表中的兴奋敌对因子得分（14.53±3.925）明显升高,且与其他两种基因型的得分均值相比差异有统计学意义（F=3.551,P=0.029）.结论 NEDD4基因的单核苷酸多态性位点rs3088077、rs7162435及rs2303579与精神分裂症的发生可能存在相关性,且rs7162435的TT基因型可能增加冲动伤人的风险.结果提示泛素化过程可能对精神分裂症的发病存在影响.Objective To assess the association of neural precursor cell expressed developmentally down-regulated 4 （NEDD4）with schizophrenia.Methods Five single nucleotide polymorphisms （SNPs） of the NEDD4 gene were genotyped by TaqMan SNPs genotyping assay in an independent sample of 464 individuals with schizophrenia and 487 healthy controls from eastern Han Chinese population.Clinical data were collected with a general information questionnaire and Positive and Negative Syndrome Scale （PANSS）.Results Frequencies of rs3088077 （allelic：x2 =18.024,P=0.000;genotypic：x2 =16.634,P=0.000）,rs7162435 （allelic：x2=6.771,P=0.009;genotypic：x2=7.352,P=0.025） and rs2303579 （allelic：x2 =11.253,P=0.001;genotypic：x2 =12.248,P=0.002） were found to be significant different between the two groups.Moreover,TT of rs7162435 was significantly correlated with scores of factors of excitement and hostility （14.53±3.925,F=3.551,P=0.029）.Conclusion rs3088077,rs7162435 and rs2303579 of the NEDD4 gene may be associated with schizophrenia.Moreover,the TT genotype of rs7162435 may increase the severity of excitement and hostility.Our results may provide a clue for delineating the connection between the glutamate hypothesis of schizophrenia and ubiquitination.

关 键 词：精神分裂症 NEDD4基因 单核苷酸多态性 阳性与阴性症状量表 

分 类 号：R776.1[医药卫生—眼科]