中国西北地区汉族人群5-羟色胺2A受体启动区多态性与心境障碍发病、性别、症状、自杀的相关性

目的探讨中国西北地区汉族人群5-羟色胺2A受体(-1438A/G)基因多态性与心境障碍的发病、性别、亚型以及自杀相关是否关联。方法应用聚合酶链反应(PCR)扩增技术测定160例患者(包括单相抑郁症和双相障碍-抑郁相)和160例正常对照的5-HTR2A的基因型和等位基因,分别验证各种基因型与心境障碍的性别、亚型、自杀的相关性。结果病例组的A/G、G/G基因型和G等位基因频数均高于正常对照组(47.5%vs.40.6%;38.7%vs.34.4%;62.5%vs.54.7%;均P<0.05),两组性别分层比较,女性组与男性病例组相比差异无统计学意义(P>0.05)。单相抑郁症与双相障碍-抑郁相两组间进行比较差异无统计学意义(P>0.05)。病例组有无自杀相关分层比较差异无统计学意义(P>0.05)。自杀相关性别分层比较差异无统计学意义(P>0.05)。结论中国西北地区汉族人群5-HTR2A(-1438A/G)基因多态性与心境障碍的发病相关,主要是与单相抑郁症相关;A/G、G/G基因型可能是心境障碍的易感基因型,G等位基因可能是心境障碍的易感基因。

Association of 5-HTR2A promoter region gene polymorphisms with episode,gender,symptoms and suicidality of affective disorder in northwest Chinese Han population

Objective To explore the association of 5-HTR2A(-1438A/G) promoter region gene polymorphisms with episode,gender,suicidality and subtypes of affective disorder in northwest Chinese Han population. Methods Polymerase chain reaction(PCR) was used to detect distribution frequency of serotonin 2A receptor promoter region polymorphisms of 160 affective disorder patients(patient group) and 160 normal people(control group);PCR and sequencing technique were applied to detect the association of serotonin 2A receptor gene polymorphisms with episode,gender,suicidality and subtypes of affective disorder of the patient group and the control group. Results There were significant differences in 5-HTR2A genotypes and the alleles between the patient group and the control group.The frequencies of G/G(38.7% vs.34.4%) and A/G(47.5% vs.40.6%) genotypes and G alleles(62.5% vs.54.7%) were significantly higher in the patient group than in the control group(all P<0.05).There was no significant difference between men and women patients(P>0.05).No significant difference was found between patients with bipolar disorder(depressive phase) and unipolar depression.Affective disorder patients with or without suicidality behavior did not differ significantly in frequency of the genotypes or that of the alleles(P>0.05).There was no significant difference in distribution frequency of 5-HTR2A genotypes and alleles between men and women affective disorder patients with suicidality behavior(P>0.05). Conclusion 5-HTR2A gene polymorphisms are related to the episode of affective disorder,especially unipolar depression,in northwest Chinese Han population.A/G and G/G may be the susceptibility genotypes of affective disorder,and G allele may be the susceptibility gene.