5-羟色胺2A受体基因多态性与抑郁症的关联研究

目的探讨5-羟色胺2A（5-HT2A）受体基因T102C和A-1438G多态性与抑郁症的关系。方法采用聚合酶链式反应（PCR）和限制性片断长度多态性（RFLP）技术检测123例抑郁症患者和122名健康对照的T102C和A-1438G基因多态性分布,病例-对照关联分析法分析两组间基因型频率和等位基因频率的差异。结果5-HT2A基因T102C多态性等位基因频率和A-1438G等位基因频率在患者组和对照组间的分布均有显著性差异（P〈0．05）,患者组C102等位基因频率（30．1％）明显低于对照组（41．0％）,在分层分析中,男性患者组中频率（26．2％）明显低于男性对照组（50．0oA）;患者组A-1438等位基因型频率（69．1％）明显高于对照组（56．6％）,A-1438等位基因在女性患者组中频率（69．1％）明显高于女性对照组（55．2％）。患者组中TT／AA（T102T／A-1438A）基因型组合频率（43．9％）明显高于对照组（20．5％）。结论5-HT2A基因T102C和A-1438G多态性可能与抑郁症的发病有关,其中C102等位基因可能是男性罹患抑郁症的保护因子,A-1438等位基因可能是抑郁症特别是女性抑郁症患病的危险因子,T102T和A—1438A基因型同时出现可能是抑郁症发病的重要危险因素。

An association study on polymorphisms of 5-HT2A gene and major depression

Objective To explore the relationship between polymorphisms of T102C and A- 1438G in 5- Hydroxytryptamine 2A receptor gene and major depression. Methods Polymorphisms of 5 -HT2A（T102C and A-1438G）in 123 major depressive patients and 122 normal healthy controls were detected by polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） techniques. The case-control association analysis was adopted to analyze the frequencies of genotypes and alleles in depressive patients and controls. Results There were significant differences between patients and controls in allelic frequencies of T102C and A- 1438G in 5- HT2A gene. The frequency of C102 allele in patients （30.1%） is significantly lower than that in controls （41.0%）, especially in male （26.2 % vs 50.0 % ）; The frequency of A-1438 allele in patients （69. 1 %） is significantly higher than that in controls （56. 6%）, especially in female （69. 1% vs 55. 2%）; The frequency of AA/TT（A-- 1438A/T102T） genotype in patients （43. 9%） is significantly higher than that in controls （20. 5%）, Conclusions 5--HT2A gene polymorphisms may be related to susceptibility in depression; C102 allele may be a protective factor for males, while A-1438 allele may be a precipitating factor for females. The co-occurrence＇of T102T and A-1438A genotypes may be an important risk factor for major depression.