突触结合蛋白2基因多态性与中国汉族精神分裂症的关联研究

Association study of synaptotagmin 2 gene polymorphisms with schizophrenia in Chinese Han population

目的·探讨突触结合蛋白2(synaptotagmin 2,SYT2)基因与中国汉族人群精神分裂症(schizophrenia,SZ)的关联性。方法·采用TaqMan探针基因分型技术对478例SZ患者(SZ组)和474名健康对照者(HC组)的SYT2基因的5个单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs6427957、rs907697、rs12564274、rs10800856、rs61820945)进行检测分型,应用HaploView软件、SHEsis及SNPstats在线软件比较SZ组与HC组的等位基因、基因型、不同遗传模式下基因型以及单倍型频率分布有无差异。结果·rs10800856位点等位基因及基因型频率分布在SZ组与HC组之间差异有统计学意义(P=0.003,P=0.012);经Bonferroni校正后,rs10800856位点等位基因频率差异仍有统计学意义(P=0.015),基因型频率差异无统计学意义。rs10800856位点在显性及加性遗传模式下,基因型频率分布在SZ组与HC组之间比较差异有统计学意义(P=0.004,P=0.005),校正后差异仍有统计学意义(P=0.020,P=0.025)。由rs12564274-rs10800856-rs61820945组成的单倍型C-T-C频率分布在SZ组与HC组间差异有统计学意义(P=0.009);经Bonferroni校正后,差异仍具有统计学意义(P=0.036)。结论·在中国汉族人群中,SYT2基因可能是SZ的易感基因,rs10800856位点可能与精神分裂症发病风险有关联。

Objective·To investigate the relationship between synaptotagmin 2(SYT2)gene and schizophrenia(SZ)in Chinese Han population.Methods·TaqMan probe genotyping technique was used to detect 5 single nucleotide polymorphism(SNP)sites(rs6427957,rs907697,rs12564274,rs10800856 and rs61820945)of SYT2 gene in 478 SZ patients(SZ group)and 474 healthy controls(HC group).HaploView software,SHEsis and SNPstats online software were used to compare the alleles,genotypes,genotypes under different genetic models and haplotypes frequency distribution between the SZ group and HC group.Results·The frequency distribution differences of rs10800856 allele and genotype were statistically significant between the SZ group and HC group,respectively(P=0.003,P=0.012).After Bonferroni correction,the allele frequency difference of rs10800856 site was still statistically significant(P=0.015),while the genotype frequency difference was not statistically significant.Under the dominant and additive genetic mode,the genotype frequency distributions of rs10800856 site were significantly different between the SZ group and HC group(P=0.004,P=0.005).After correction,the differences were still statistically significant(P=0.020,P=0.025).The frequency distribution of haplotype C-T-C,composed of rs12564274-rs10800856-rs61820945,between the SZ group and HC group was significantly different(P=0.009).After Bonferroni correction,the difference was still statistically significant(P=0.036).Conclusion·In Chinese Han population,SYT2 may be the susceptibility gene of SZ,and rs10800856 site may be associated with the risk of SZ.