色氨酸羟化酶2启动子区基因多态性与酒依赖的关联性研究  

Association study on tryptophan hydroxylase 2 promoter region gene polymorphisms with alcohol dependence

作　　者：李秋凤[1] 唐春玲[1] 胡建[1] 

机构地区：[1]哈尔滨医科大学附属第一医院精神卫生中心,哈尔滨150001

出　　处：《中华行为医学与脑科学杂志》2015年第2期120-123,共4页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：国家自然科学基金资助项目（81271471）;国家科技支撑十二五计划资助项目（2012BA101800）

摘　　要：目的 探讨中国北方汉族人群色氨酸羟化酶2 （TPH2）启动子区基因（rs4570625、rs11178997）多态性与酒依赖及酒依赖的抑郁症状是否存在关联性.方法 应用聚合酶链式反应（PCR）扩增技术及基因序列测序方法,对60例酒依赖患者（患者组）和62例正常人群（对照组）的TPH2启动子区基因位点rs4570625和rs11178997的基因型和等位基因频率进行测定.应用24项汉密尔顿抑郁量表（HAMD）评定酒依赖患者的抑郁症状,并分析酒依赖的抑郁症状与TPH2基因多态性的关联性.结果 rs4570625的基因型（G/G、G/T、T/T）分布频率在两组之间差异无统计学意义（χ^2=5.078,P＞0.05）,但其等位基因（G和T）频率分布在患者组和对照组之间差异有统计学意义（χ^2=5.280,P＜0.05）.rs4570625的等位基因分布频率与酒依赖的抑郁症状之间差异也存在统计学意义（P＜0.05）,但其基因型分布频率与酒依赖的抑郁症状之间差异无统计学意义（P＞0.05）.rs11178997的基因型（A/A、A/T、T/T）和等位基因（A和T）分布频率在患者组和对照组之间均差异无统计学意义（均P＞0.05）,且与酒依赖的抑郁症状之间均差异无统计学意义（均P＞0.05）.结论 中国北方汉族人群TPH2启动子区基因rs4570625的多态性与酒依赖和酒依赖的抑郁症状有关,而且T等位基因的携带是易感者,但rs1117899的多态性与酒依赖及其抑郁症状并无相关性.Objective To investigate the association of single nucleotide polymorphisms （SNPs） of loci rs4570625,rs11178997 at promoter region of tryptophan hydroxylase 2 （TPH2） genes with alcohol dependence and depressive symptom in the alcohol-dependent subjects in north Chinese Han people.Methods Genotype and allele frequencies of the TPH2 rs4570625 and rs1 1178997 polymorphisms were examined in 60 alcohol-dependent subjects （patient group） and 62 normal controls （control group） by Polymerase Chain Reaction （PCR） amplification and DNA sequencing techniques.The alcohol-dependent subjects were evaluated by 24 Hamilton Depression Scale （HAMD）.Association analysis was carried out between the polymorphism and symptom of depression in the alcohol-dependent subjects.Results There were significantly statistical differences in the rs4570625 alleles （G and T） （χ^2 =5.280,P〈0.05）,but no statistically significant differences in the genotypes （G/G,G/T,T/T） （χ^2 =5.078,P〉0.05） between patient group and control group.Significant statistically difference could be found in the rs4570625 alleles （G and T） between the alcohol-dependent subjects who had depressive symptoms and the subjects who did not have depressive symptoms （P〈0.05）,but no significantly statistical differences could be found in the genotypes frequency （P〉0.05）.No significant statistically differences in the genotype and allele frequencies of the rs 11178997 were observed between the alcohol-dependent subjects and normal controls and the alcohol-dependent subjects who had depressive symptoms and the subjects who did not have depressive symptoms （all P〉0.05）.Conclusion The results suggest that the liability of alcohol dependence and depressive symptoms in alcohol-dependent subjects may be associated with the polymorphisms of TPH2 rs4570625 in north Chinese Han population,and the variant of the T allele may contribute to the morbidity.However,the polymorphisms of TPH2 rs1 1178997 may have no association with

关 键 词：酒依赖 色氨酸羟化酶2 基因多态性 

分 类 号：R749.62[医药卫生—神经病学与精神病学]