儿童青少年精神分裂症与NCAM1基因的关联研究

摘要

目的 对通过Affymetrix Genome-Wide 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(High Resolution Melting,HRM)进行基因分型后,用HaploView4.1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 100 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 hnkage disequilibrium analysis.