神经调节蛋白1基因与精神分裂症的关联研究。
Association study of neuregulin 1 gene with schizophrenia.
作者信息
Yang J Z, Si T M, Ruan Y, Ling Y S, Han Y H, Wang X L, Zhou M, Zhang H Y, Kong Q M, Liu C, Zhang D R, Yu Y Q, Liu S Z, Ju G Z, Shu L, Ma D L, Zhang D
机构信息
Institute of Mental Health, Peking University, Beijing 100083, China.
出版信息
Mol Psychiatry. 2003 Jul;8(7):706-9. doi: 10.1038/sj.mp.4001377.
A number of studies have indicated that 8p22-p12 is likely to harbor schizophrenia susceptibility loci. In this region, the candidate gene of interest, neuregulin 1 (NRG1), may play a role in the pathogenesis of schizophrenia. Then in the present study, we performed the linkage disequilibrium to determine the association between three genetic variants (SNPs: rs3924999, rs2954041, SNP8NRG221533) on NRG1 gene and schizophrenia in 246 Chinese Han schizophrenic family trios using PCR-based restriction fragment length polymorphism method and denaturing high-performance liquid chromatography. The transmission disequilibrium test analysis for each variant showed a significant difference between two transmitted alleles even after Bonferroni correction (rs3924999, P=0.007752; rs2954041, P=0.0009309; SNP8NRG221533, P=0.012606). The global chi(2) test for haplotype transmission also revealed a strong association (chi(2)=46.068, df=7, P&<0.000001). Our results suggest that the NRG1 gene may play a role in conferring susceptibility to the disease.
多项研究表明，8p22 - p12区域可能存在精神分裂症易感基因座。在该区域，感兴趣的候选基因神经调节蛋白1（NRG1）可能在精神分裂症的发病机制中起作用。因此，在本研究中，我们采用基于聚合酶链反应的限制性片段长度多态性方法和变性高效液相色谱法，对246个中国汉族精神分裂症家系三联体中NRG1基因上的三个基因变异（单核苷酸多态性：rs3924999、rs2954041、SNP8NRG221533）与精神分裂症之间的关联进行连锁不平衡分析。对每个变异的传递不平衡检验分析显示，即使经过Bonferroni校正，两个传递等位基因之间仍存在显著差异（rs3924999，P = 0.007752；rs2954041，P = 0.0009309；SNP8NRG221533，P = 0.012606）。单倍型传递的总体卡方检验也显示出强烈关联（卡方 = 46.068，自由度 = 7，P < 0.000001）。我们的结果表明，NRG1基因可能在赋予该疾病易感性方面起作用。
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