皮质下缺血性抑郁症患者5-羟色胺转运体基因启动子区基因多态性和认知功能研究

目的 探讨皮质下缺血性抑郁症(SID)患者5-羟色胺转运体基因启动子区(5-HTTLPR)基因多态性分布特征和认知功能及其之间关系.方法 运用汉密尔顿抑郁量表(HAMD)、简易智能状态检查量表(MMSE)、蒙特利尔量表(MoCA)对所有被试者进行抑郁和认知功能评定.运用多聚酶链式反应-限制性片段长度多态性技术(PCR-RFLP)检测60例SID患者与60例健康老年对照者5-HTTLPR基因多态性的分布频率.结果 SID组与对照组比较,5-HTTLPR基因型频率及等位基因频率差异均有统计学意义(χ2=7.833及χ2=6.290,均P＜0.05),SID患者SS等位基因型频率(58.3%)显著高于对照组(23.3%);S等位基因频率(68.3%)也显著高于对照组(52.5%).SID组MoCA总分(23.63±1.59)分,低于对照组的(27.25±1.59)分,差异具有统计学意义(t=12.44,P＜0.01).结论 5-HTTLPR的SS基因型可能是SID的易感基因.SS纯合子可能是SID特别是女性发病的危险因子;等位基因L及其纯合子可能是SID抑郁症状的保护因子.SID患者存在一定的认知功能损害.

Abstract：

Objective To explore the polymorphisms of serotonin transporter gene-linked promoter region (5-HTTLPR) and cognitive function in patients with subcortical ischemic depression (SID). Methods A battery of neuropsychological tests including Hamilton Depression Scale (HAMD), Mini Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) were used to evaluate depression and cognitive function for all enrolled subjects. And the distribution frequency of 5-HTTLPR-promoter region polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in 60 SID patients and 60 health controls. Results There were significant differences in 5-HTTLPR genotypes and alleles between SID group and control group (χ2=7.833, χ2=6.290, both P＜0.05).The SID group showed higher genotype SS than did the control group (58.3% vs. 23.3%) and higher allele S (68.3% vs. 52.5%) but lower genotype LL (16.7% vs. 23.3%) and allele L (31.7% vs. 47.5%). SID group had lower MoCA score than did the control group (23.63±1.59) scores vs. (27.25±1.59) scores, t=12.44, P＜0.01]. Conclusions The polymorphism of 5-HTTLPR gene may play an important role as a nosogenesis of SID. The frequency of SS genotype may be associated with SID especially in females, having more cognitive impairment. The genotype LL and allele L may be a protective factor for depression symptoms of SID.

Study on polymorphism of serotonin transporter gene-linked promoter region and cognitive function in patients with subcortical ischemic depression

Objective To explore the polymorphisms of serotonin transporter gene-linked promoter region (5-HTTLPR) and cognitive function in patients with subcortical ischemic depression (SID). Methods A battery of neuropsychological tests including Hamilton Depression Scale (HAMD), Mini Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) were used to evaluate depression and cognitive function for all enrolled subjects. And the distribution frequency of 5-HTTLPR-promoter region polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in 60 SID patients and 60 health controls. Results There were significant differences in 5-HTTLPR genotypes and alleles between SID group and control group (χ2=7.833, χ2=6.290, both P＜0.05).The SID group showed higher genotype SS than did the control group (58.3% vs. 23.3%) and higher allele S (68.3% vs. 52.5%) but lower genotype LL (16.7% vs. 23.3%) and allele L (31.7% vs. 47.5%). SID group had lower MoCA score than did the control group (23.63±1.59) scores vs. (27.25±1.59) scores, t=12.44, P＜0.01]. Conclusions The polymorphism of 5-HTTLPR gene may play an important role as a nosogenesis of SID. The frequency of SS genotype may be associated with SID especially in females, having more cognitive impairment. The genotype LL and allele L may be a protective factor for depression symptoms of SID.