5-HTT基因3个SNP位点遗传多态性与偏执型精神分裂症的相关性

摘要

Objective To investigate the population genetic data of 3 SNP loci (rs25533, rs34388196 and rs1042173) of 5-hydroxytryptamine transporter (5-HTT) gene and the association with paranoid schizophrenia. Methods Three SNP loci of 5-HTT gene were examined in 132 paranoid schizophrenia patients and 150 unrelated healthy individuals of Northern Chinese Han population by PCR-RFLP technique. The Hardy-Weinberg equilibrium test was performed using the chi-square test and the data of haplotype frequency and population genetics parameters were statistically analyzed. Results Among these three SNP loci, four haplotypes were obtained. There were no statistically significant differences between the patient group and the control group (P>0.05). The DP values of the 3 SNP loci were 0.276, 0.502 and 0.502. The PIC of them were 0.151, 0.281 and 0.281. The PE of them were 0.014, 0.072 and 0.072. Conclusion The three SNP loci and four haplotypes of 5-HTT gene have no association with paranoid schizophrenia, while the polymorphism still have high potential application in forensic practice.%目的 探讨5-羟色胺转运体(5-hydroxytryptamine transporter,5-HTT)基因3个SNP位点(rs25533、rs34388196、rs1042173)的群体遗传学信息及其与偏执型精神分裂症的相关性.方法 采用PCR-RFLP技术对中国北方汉族群体132例偏执型精神分裂症患者和150例健康无关个体5-HTT基因3个SNP位点遗传多态性进行检测,使用x2检验进行Hardy-Weinberg平衡检验,对单倍型频率、群体遗传学参数进行统计学分析.结果 5-HTT基因3个SNP位点组成4种单倍型,其频率在精神分裂症组与对照组间比较差异无统计学意义(P＞0.05),3个SNP位点的DP值分别为0.276、0.502、0.502,PIC值分别为0.151、0.281、0.281,PE值分别为0.014、0.072、0.072.结论 5-HTT基因3个SNP位点及其组成的4种单倍型与偏执型精神分裂症无相关性,而其多态性具有较高的法医学应用价值.