豫北汉族人群CDH2基因多态性与精神分裂症发病及临床症状的关联分析

Association of N-cadherin(CDH2)polymorphisms with schizophrenia susceptibility and clinical symptoms in Han Chinese population

目的通过病例对照关联分析,在豫北汉族人群中探讨N-钙粘蛋白(N-cadherin,CDH2)基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)与精神分裂症(schizophrenia,SZ)的相关性。方法在豫北地区募集528例偏执型SZ患者和528例健康对照,对位于CDH2基因的25个SNPs进行分析,采用阳性与阴性症状量表(positive and negative syndrome scale,PANSS)评估267例首发SZ患者的临床症状,利用SNPStats在线软件分析CDH2基因与临床症状的相关性。结果SNPs rs9951577和rs1231268的等位基因频率与SZ显著相关(P<0.05),rs1639387的基因型频率与SZ显著相关(P=0.044)。将样本按性别分类后,发现SNPs rs1789470和rs28365328在女性患者中与SZ显著相关(P=0.044,0.019)。此外,研究发现CDH2与SZ临床特征相关(P<0.05),rs1231268的GG型与另外两种基因型(AG+AA)患者的阴性因子分[(21.12±8.41)分,(18.87±7.52)分]差异具有统计学意义(P<0.05)。结论CDH2基因可能是SZ的易感基因之一,并且与临床阴性症状有一定的相关性。

Objective A case-control association analysis was performed to investigate if the single nucleotide polymorphisms(SNPs)of N-cadherin(CDH2)gene is implicated in schizophrenia in a Han Chinese population.Methods A total of 528 patients with paranoid schizophrenia and 528 healthy controls were recruited from northern Henan province to analyze 25 SNPs located in CDH2 gene.The clinical symptoms of 267 first-episode schizophrenia patients were evaluated with positive and negative syndrome scale(PANSS),and the correlation between CDH2 gene and clinical symptoms was analyzed by SNPStats software online.Results Allele frequencies of rs9951577 and rs1231268 were significantly correlated with schizophrenia(P<0.05),genotype frequency of rs1639387 was significantly correlated with schizophrenia(P=0.044).After gender classification,SNPs rs1789470 and rs28365328 were found to be significantly correlated with schizophrenia in female patients(P=0.044,0.019).In addition,the study found that CDH2 was correlated with the clinical characteristics of schizophrenia(P<0.05),and the negative factor score of patients between GG type rs1231268 and the other two genotypes(AG+AA)((21.12±8.41)vs(18.87±7.52))was statistically significant(P<0.05).Conclusion CDH2 gene may be one of the susceptibility genes to SZ,and has definite correlation with clinical negative symptoms.