儿童青少年精神分裂症与NCAM1基因的关联研究  

Association study between single nucleotide polymorphisms of NCAM1 gene and childhood-adolescent schizophrenia

作　　者：陈星[1] 唐剑[2] 刘金同[3] 张燕[3] 栾萌[1] 周鹏[1] 刘文敏[1] 陈刚[1] 

机构地区：[1]山东省医学科学院基础医学研究所,济南250062 [2]山东大学校医院 [3]山东大学医学院精神卫生研究所

出　　处：《精神医学杂志》2011年第2期81-85,共5页Journal of Psychiatry

基　　金：国家自然科学基金(30770780);山东省自然科学基金重点项目(Z2008C11)

摘　　要：目的对通过Affymetrix Genome-W ide SNP Array 6.0全基因组芯片扫描发现,国外曾经报道与精神分裂症关联的NCAM1基因在儿童青少年精神分裂症家系中进行验证。方法选择了100例儿童青少年发病的精神分裂症患者及其父母,通过5个NCAM1基因内的单核甘酸多态性位点(rs10891495,rs1245133,rs1821693,rs686050,rs12794326)经高分辨率溶解曲线(H igh ResolutionMelting,HRM)进行基因分型后,用HaploV iew 4.1软件进行统计分析。结果未证实上述位点及所构建的单倍型与精神分裂症关联(P>0.05)。结论 (1)不支持NCAM1基因与精神分裂症病因关联;(2)Affymetrix6.0全基因组SNP芯片关联分析产生的假阳性结果可经家系连锁不平衡分析验证。Objective To validate the positive association detected by genome -wide association study using Affymetrix genome - wide SNP array 6. 0 between NCAM1 gene and childhood - adolescent schizophrenia in schizophrenic families. Methods Five single nucleotide polymorphisms within NCAM1 gene（rs10891495, rs1245133, rs1821693, rs686050, rs12794326）were genotyped by Rotor Gene 6000 High- Resolution Melting （HRM） system in i00 childhood- adolescent schizophrenic families recruited from Shandong province. Family -based association study was conducted using Haploview 4. 1 software. Results No significant association was detected in either allelic or haplotypic analysis in those families （P 〉 0.05 ）. Conclusion （ 1 ） NCAM1 gene is unlikely to play an important role in the etiology of childhood - adolescent schizophrenia in Shandong province. （2） The false positive association between NCAM1 and childhood - adolescent schizophrenia detected by Affymetrix genome - wide SNP array 6.0 can be corrected by family -based linkage disequilibrium analysis.

关 键 词：精神分裂症神经细胞黏附分子1 基因 单核苷酸多态 关联分析 

分 类 号：R749.3[医药卫生—神经病学与精神病学]