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

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.