原发性失眠的5-羟色胺转运体基因遗传多态性研究

目的　探讨原发性失眠与羟色胺转运体( 5 -HTT)基因遗传多态性的关系。方法　对85例病例组和54名对照组提取外周血基因组DNA ,进行PCR扩增,分析相应的基因型,并比较两组不同基因型患者的焦虑和抑郁评分有无差异。结果　两组的5 -HTTLPR和5 -HTTVNTR的基因型、等位基因频率及不同基因型频率的两两比较均无显著性差异(P >0 .0 5) ;病例组5- HTTLPR的S/S(S组)和S/L +L/L(L组)两组之间及5- HTTVNTR的1 0 / 1 0 + 1 0 / 1 2 ( 1 0组)和1 2 / 1 2 ( 1 2组)两组之间的焦虑、抑郁量表评分比较均无显著性差异(P >0 . 0 5)。结论　5- HTTLPR和5 -HTTVNTR两种基因遗传多态性与原发性失眠的关系尚需进一步探讨。

Polymorphisms of 5-HTT-related gene study in patients with primary insomnia

Objective To identify polymorphisms of serotonin transporter(5-HTT) gene and to investigate whether there is relationship between any such polymorphisms and the occurrence of primary insomnia. Methods 85 patients diagnosed as primary insomnia and 57 healthy control subjects were tested. Genotype and allele frequencies of 5-HTT-linked polymorphism regions(5-HTTLPR & 5-HTTVNTR) at 5-HTT-gene were examined with polymerase chain reaction(PCR). Results The frequencies of the alleles and the genotypes in promoter region and 2 intron of 5-HTT gene in patients with primary insomnia were not significantly different from those in healthy controls( P >0.05). No significant difference in state-trait anxiety and Beck depression scores were found between patients with S/S and S/L or L/L genotypes of 5-HTTLPR or with 12/12 and 10/10 or 10/12 genotypes of 5-HTTVNTR( P >0.05). Conclusions No corelation was found between polymorphisms of 5-HTT-related gene and primary insomnia, and further study is necessary.