5-羟色胺转运体基因多态性与精神分裂症的相关性研究

A study of correlation between serotonin transporter gene polymorphism and schizophrenia

目的:探讨中国汉族人群中5-羟色胺转运体(5-HTT)基因与精神分裂症之间的相关性。方法:189例符合中国精神障碍分类与诊断标准第3版及美国精神障碍诊断与统计手册第4版精神分裂症诊断标准的患者(患者组)使用聚合酶链式反应扩增5-HTT基因的启动子区(5-HTTLPR)位点和内含子区(5-HTTVNTR)位点,以琼脂糖凝胶电泳分离法进行基因分型,并和300名正常人(正常对照组)进行对照。结果:患者组与正常对照组之间5-HTTLPR位点L/L、L/S和S/S基因型频率以及等位基因L、S频率分布上差异具有统计学意义(χ2=47.882,χ2=44.188;P<0.01或P<0.001);5-HTTVNTR位点12/12、12/10、10/10基因型频率和等位基因10、12频率分布上差异无统计学意义(χ2=0.335,χ2=0.051;P均>0.05)。结论:S/S基因型及S等位基因可能是精神分裂症患者的易感等位基因;5-HTTVNTR位点在中国汉族人群精神分裂症发病机制中可能不起主要作用。

Objective： The aim of this study was to explore the correlation between 5-serotonin transporter gene （5-HTF） and schizophrenia in Chinese Han population. Method：This study comprised 189 schizo- phrenic patients ,who exactly met the Chinese classification and diagnostic criteria of mental disorders 3rd edi- tion and United States diagnostic and statistical manual of mental disorders 4th edition criteria for schizophrenia, compared to a control group of 300. Polymerase chain reaction was performed to amplify sites of 5-HTTLPR and 5-HTYVNTR of serotonin transporter genes and agarose gel electrophoresis method was used to get genotype. Results：For 5-HTFLPR polymorphism L/L, L/S and S/S ,there were significant differences in the frequency of genotypes and allele L, S（ X2 = 47. 882,X2 = 44. 188 ; P 〈 0.01 or P 〈 0. 001 ） between schizophrenia patients and control subjects. For 5-Hq＇TVNTR site 12/12,12/10 and 10/10,there were no significant differences in the frequency of genotypes and alleles 10,12 （ X2 = 0. 335, X2 = 0.051 ; all P 〉 0.05 ）. Conclusion： The S/S gen- otype and S allele in schizophrenia are possibly the susceptible allele in schizophrenia;5-HTl＇VNTR sites may not play a vital role in schizophrenic pathogenesy in Chinese Han population.