AKT1基因多态性与重性抑郁障碍认知功能的关联分析  

Correlation of AKT1 gene polymorphisms with cognitive function in major depressive disorder

作　　者：李剑虹[1,2] 王磊[1] 张克让[1] 徐勇[1] 孙宁[1] 彭菊意[1] 

机构地区：[1]山西医科大学第一医院精神科,太原030001 [2]太原市社会福利精神康宁医院临床二科

出　　处：《中国药物与临床》2011年第10期1116-1118,共3页Chinese Remedies & Clinics

基　　金：国家自然科学基金(30971054)

摘　　要：目的探讨脑源性神经营养因子(BDNF)信号传导通路中蛋白激酶B1(PKB1,又称AKT1)基因多态性与抑郁障碍及认知功能的关系。方法采用病例对照研究,选取中国汉族首发重性抑郁患者73例和与之性别、年龄相匹配的健康对照73名。采用威斯康辛分类测验(WCST)评定2组人群的认知功能;并用汉密顿抑郁量表(HAMD)评定患者的临床症状;应用聚合酶链反应技术(PCR)扩增目的DNA片段,对PCR产物直接测序,检测4个AKT1基因单核苷酸多态性(SNP)rs2494746、rs2794738、rs3001371和rs1130214多态性。结果①样本的基因分布除SNPrs2794738(χ2=14.19,P=0.001)外均符合Hardy-Weiberg平衡(P>0.05)。②其余3个基因多态性的基因分型和等位基因频率在重性抑郁障碍患者组和对照组之间差异无统计学意义(P>0.05)。③AKT1基因SNPrs3001371位点基因型与WCST非持续性错误数差异有统计学意义(χ2=6.630,P=0.002),两两比较显示G/G与G/A和A/A基因型患者间差异具有统计学意义(P=0.001)。结论 AKT1基因多态性与重性抑郁障碍无明显相关,但其中SNPrs3001371多态性与重性抑郁障碍的认知功能损伤存在关联性,G/G基因型患者认知功能损害较严重。Objective To investigate the relationship between protein kinase B1（PKB1,also called AKT1） gene polymorphisms in BDNF-signaling pathways and cognitive function in major depressive disorder（MDD）.Methods In a case-control study,73 Han people with initial episode of major depressive disorder and 73 age-and gender-matched normal controls were measured for cognitive function with Wisconsin Sorting Card Test（WCST）.The clinical symptoms in the subjects were evaluated with HAMD.Polymerase chain reaction（PCR） and direct sequencing were used to study the genotypes of AKT1 gene SNP rs2494746,rs2794738,rs3001371 and rs1130214.Results ①The distributions of genotypes in the patients and controls were consistent with Hardy-Weinberg equilibriums（P0.05） except for the AKT1 rs2794738（χ2=14.19,P=0.001）.②The genotype distribution and allele frequency for AKT1 gene polymorphisms（except the AKT1 rs2794738） did not show any statistical difference between patients with MDD and controls（P0.05）.③Further analyses revealed a significant association between rs3001371 locus and WCST random errors（χ2=6.630,P=0.002）.There were significant diferences in WCST random errors among patients with G/G,G/A and A/A genotypes.Conclusion The AKT1 gene polymorphisms are not significantly associated with development of MDD,whereas the AKT1 SNP rs3001371 is correlated with disordered cognitive function in MDD,with more cognitive impairment in patients with G/G genotype.

关 键 词：抑郁症 蛋白激酶类 多态性 单核苷酸 认知 

分 类 号：R749.4[医药卫生—神经病学与精神病学]