5-羟色胺转运体基因多态性与SSRIs疗效

本文就5-羟色胺转运体多态性与SSRIs疗效之间关系作一综述。     

5-羟色胺转运体基因多态性与SSRIs疗效

本文就 5 -羟色胺转运体多态性与 SSRIs疗效之间关系作一综述。     

5-羟色胺2C受体基因-759C/T多态性与中国汉族脑卒中后抑郁的关系

目的 探讨5-羟色胺2C受体基因(HTR2C)-759C/T多态性与中国汉族脑卒中后抑郁(PSD)的关系.方法 应用聚合酶链反应-限制性片段长度多态(PCR-RFLP)技术,测定中国汉族50例PSD患者(PSD组)、76例脑卒中后非PSD(非PSD)患者及60名正常人(正常对照组)的HTR2C-759C/T基因型及等位基因频率.结果 各组间HTR2C-759C/T基因型及等位基因频率差异无统计学意义;PSD组女性CT+TT基因型及T等位基因频率明显高于非PSD组及正常对照组女性(均P＜0.05);T等位基因频率与女性PSD呈正相关[优势比(OR)=4.36,P＜0.01].结论 HTR2C-759C/T多态性可能与中国汉族女性PSD发病相关,T等位基因可能是中国汉族女性PSD的危险因素.     

5-羟色胺转运体基因多态性与精神分裂症的相关性研究

目的：探讨中国汉族人群中5一羟色胺转运体（5-HTT）基因与精神分裂症之间的相关性。方法：189例符合中国精神障碍分类与诊断标准第3版及美国精神障碍诊断与统计手册第4版精神分裂症诊断标准的患者（患者组）使用聚合酶链式反应扩增5-HTT基因的启动子区（5-HTrLPR）位点和内含子区（5-HTTVNTR）位点,以琼脂糖凝胶电泳分离法进行基因分型,并和300名正常人（正常对照组）进行对照。结果：患者组与正常对照组之间5-HTTLPR位点L／L、L／S和S／S基因型频率以及等位基因L、s频率分布上差异具有统计学意义（x2=47．882,x2=44．188;P〈0．01或P〈0．001）;5-HTTVNTR位点12／12、12／10、10／10基因型频率和等位基因10、12频率分布上差异无统计学意义（X2=0．335,X。=0．051;P均〉0．05）。结论：S／S基因型及S等位基因可能是精神分裂症患者的易感等位基因;5-HT．TVNTR位点在中国汉族人群精神分裂症发病机制中可能不起主要作用。     

偏头痛与5-羟色胺转运体基因多态性的相关性研究

目的研究5-羟色胺转运体(5-hydroxytryptamine transporter,5-HTT)基因多态性频率在汉族偏头痛人群的分布,探讨该基因多态性与偏头痛的相关性。方法采集40例偏头痛患者(实验组)和40例健康成人(对照组)的肘静脉血,通过DNA-PCR扩增等分子生物学技术,观察5-HTT基因多态性的基因型和等位基因频率在两组中的分布特点。结果5-HTT基因多态性的基因型和等位基因频率在实验组和对照组中的分布无统计学差异(P>0.05),在偏头痛各临床特征中的分布也无统计学差异(P>0.05)。结论5-HTT基因是否在汉族人群偏头痛发病中起作用,有待进一步研究。     

广泛性焦虑障碍与5-羟色胺转运体基因多态性的相关研究

目的　探讨广泛性焦虑障碍与 5 羟色胺转运体 (5 HTT)基因启动子区和内含子 2区两种多态性的相关性。方法　运用聚合酶链反应技术检测 4 7例广泛性焦虑障碍患者 (患者组 )和 90名健康对照者 (对照组 )两种基因多态性的分布频率。结果　患者组启动子区多态性 (5 HTTLPR)的short/short(SS)基因型和short(S)等位基因频率分别为 72 %和 83% ,对照组SS基因型和S等位基因频率分别为 4 9%和 71% ,两组间的差异有显著性 (P <0 0 5 )。内含子 2区数目可变的顺向重复多态性各基因型 (12 / 12 ,12 / 10 ,10 / 10 )频率在患者组中分别为 72 % ,2 6 % ,2 % ,在对照组中分别为 78% ,2 1% ,1% ,两组间的差异无显著性 (P >0 0 5 ) ;等位基因频率比较的差异亦无显著性 (P >0 0 5 )。结论　 5 HTTLPR的SS基因型可能是广泛性焦虑障碍的易感基因之一。     

原发性失眠的5-羟色胺转运体基因遗传多态性研究

目的　探讨原发性失眠与羟色胺转运体( 5 -HTT)基因遗传多态性的关系。方法　对85例病例组和54名对照组提取外周血基因组DNA ,进行PCR扩增,分析相应的基因型,并比较两组不同基因型患者的焦虑和抑郁评分有无差异。结果　两组的5 -HTTLPR和5 -HTTVNTR的基因型、等位基因频率及不同基因型频率的两两比较均无显著性差异(P >0 .0 5) ;病例组5- HTTLPR的S/S(S组)和S/L +L/L(L组)两组之间及5- HTTVNTR的1 0 / 1 0 + 1 0 / 1 2 ( 1 0组)和1 2 / 1 2 ( 1 2组)两组之间的焦虑、抑郁量表评分比较均无显著性差异(P >0 . 0 5)。结论　5- HTTLPR和5 -HTTVNTR两种基因遗传多态性与原发性失眠的关系尚需进一步探讨。     

5-羟色胺转运体基因多态性与自杀未遂的关联研究

目的探讨5-羟色胺转运体(5-HTT)基因启动子区多态性(5-HTTLPR)与自杀未遂的关系。方法运用聚合酶链反应技术(PCR)检测71例自杀未遂患者和80名健康对照5-HTTLPR基因型。结果自杀未遂组与对照组5-HTTLPR的基因型及等位基因(S/L)频率差异无统计学意义(P>0.05);进一步分析显示,有精神疾病自杀未遂组(37例)的短重复序列S等位基因频率为85.1%,与正常对照组(72.5%)及无精神疾病自杀未遂组(69.1%)的差异均具有统计学意义(X2=4.49,P=0.04;X2=5.21,P=0.03)。结论5-HTTLPR的S等位基因和精神病自杀未遂存在关联。     

5-羟色胺转运体基因第二内含子多态性与强迫症的关联分析

目的　探索上海地区汉族人口中 5 羟色胺转运体 ( 5 HTT)基因第二内含子多态性与强迫症的关系。方法　采用聚合酶链反应扩增片段长度多态 (PCR AmFLP)技术测定 10 2例强迫症 (OCD)患者和 110名健康对照的基因型。结果　强迫症患者 5 HTT第二内含子基因型与等位基因分布与健康对照之间均存在显著性差异 (P <0 0 5 ) ;等位基因 10和 12 / 10基因型与强迫症存在显著正关联 (OR值分别为 2 4 5和 2 4 2 ,P <0 0 5 )。结论　汉族人群中 5 HTT基因第二内含子多态性与强迫症的发病可能有遗传关联 ,等位基因 10和 12 / 10基因型可能是强迫症的风险因子     

5-羟色胺转运体启动子区基因多态性与强迫症的关联分析

目的:探索汉族人群中的5-羟色胺转运体启动子区(5-HTTLPR)基因多态性与强迫症的发病关系.方法:对强迫症患者(强迫症组)和正常对照者(对照组)分别采用聚合酶链反应扩增片断长度多态技术测定基因型.结果:强迫症组与对照组5-HTTLPR的基因型频率无显著性差异;两组的等位基因频率有显著性差异.L等位基因与强迫症呈正关联(OR=1.929,P＜0.05).结论:5-HTTLPR基因多态性的L等位基因与强迫症相关联,是强迫症的危险因子.     

5-羟色胺2A受体基因多态性与抑郁症的关联

目的：探讨中国汉族人群难治性抑郁症患者与5-羟色胺2A(5-HT2A)受体基因的T102C多态性之间的关系。方法：抽取79例难治性抑郁症患者作研究，以102名正常人作对照。应用聚合酶链式反应(PCR)扩增技术及限制性片段长度多态性(RFLP)分别测定所有研究对象的5-HT2A受体基因的基因型和等位基因。结果：5-HT2A受体基因的3种基因型(A1／A1，A1／A2和A2／A2)在难治性抑郁症组的分布分别为31．6％、54．4％和13．9％，在对照组分别为29．4％、45．1％和25．5％，两组间差异无显著性。结论：5-HB。受体基因的T102C多态性与难治性抑郁症之间无显著关联。     

Platelet 5-HT uptake in post-stroke depression

Serotonin (5-HT) uptake into platelets is reduced in functionally depressed patients. Depression following stroke (cerebrovascular accident; CVA) is common and severe. Sixteen patients who had suffered a CVA within 6 to 12 months and who were medication-free had blood taken for measurement of platelet 5-HT uptake. Seven of these patients were depressed. These were compared with age- and sex-matched hospital controls. No difference in platelet 5-HT uptake was found across these groups.     

Association study of 5'-UTR polymorphisms of the human dopamine transporter gene with manic depression

Objectives:  To determine the degree of association of five single nucleotide polymorphisms at the 5'-untranslated region (5'-UTR) of the human dopamine transporter gene (hSLC6A3; hDAT1) in bipolar affective disorder.
Methods:  In a case–control design study, the polymorphisms were genotyped for allelic and genotypic distribution between 105 index cases (50 males) with bipolar affective disorder according to DSM IV and 199 unaffected control subjects (120 males).
Results:  At the 5'-UTR locus of hSLC6A3, no significant allelic or genotypic differences were observed between index cases and controls. However, distinct 5-locus genotypes accumulated in subjects with bipolar affective disorder compared to control subjects (p = 0.029, odds ratio 1.84, 95% confidence interval 1.12–3.02).
Conclusions:  In conclusion, our data do not provide evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder. A minor contribution of distinct genotypes may be possible and warrants replication in extended samples.     

Extended evaluation of serotonin transporter gene functional polymorphisms in subjects with post-stroke depression.

OBJECTIVE: As an extension of our previous observation, relating a serotonin transporter gene-linked promoter region (5-HTTLPR) diallelic functional polymorphism (short [S] and long [L] alleles) to the risk of post-stroke major depression (PSD), this study investigated the role of 2 other functional polymorphisms of the serotonin transporter gene (5-HTT) in the same sample of subjects with PSD. METHOD: In a clinical sample of 26 patients with PSD and 25 unrelated nondepressed stroke patients of Caucasian descent, we examined the frequencies of a functional single nucleotide variant (A/G) within the promoter region (rs25531) and located in L (16-repeat) and S (14-repeat) alleles of 5-HTTLPR, and a variable number tandem repeat (VNTR) polymorphism in intron 2. RESULTS: There were significant intergroup differences in the allelic frequencies of 5-HTTLPR/rs25531 (SA, LA, and LG) (P < 0.05) and in the combined frequencies of lower-expressing alleles (SA and LG) and higher-expressing alleles (LA) (P < 0.025) between subjects with PSD and nondepressed stroke. However, the differences in the combined frequencies of lower-expressing (SA/SA, SA/LG, and LG/LG), intermediate-expressing (SA/LA and LA/LG), and higher-expressing (LA/LA) genotypes of 5-HTTLPR were not significant. Further, no significant intergroup differences were found in the allelic and genotypic frequencies of the intron 2 VNTR. CONCLUSIONS: These findings strengthen the support for an association between PSD and lower-expressing alleles of 5-HTTLPR.     

Serotonin transporter gene polymorphisms and treatment-resistant depression

Major Depression Disorder (MDD) is a serious mental illness that is one of the most disabling diseases worldwide. In addition, approximately 15% of depression patients are defined treatment-resistant (TRD). Preclinical and genetic studies show that serotonin modulation dysfunction exists in patients with TRD. Some polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4) are likely to be involved in the pathogenesis/treatment of MDD; however, no data are available concerning TRD.     

囊泡单胺转运蛋白2基因多态性与帕金森病患者抑郁状态相关性的研究

目的 研究囊泡单胺转运蛋白2（VMAT2）的rs363371和rs363324基因多态性与汉族人群中PD患者合并抑郁状态的相关性。方法 收集102例汉族帕金森病（PD）患者,通过采用17项汉密尔顿抑郁量表（HAMD-17）将患者分为PD合并抑郁组和PD未合并抑郁组,用连接酶法对VMAT2的rs363371和rs363324进行了基因型分型,运用二元Logistic回归检验分析PD患者合并抑郁的危险因素。结果 rs363371的AA基因型降低了PD患者合并抑郁的风险（OR=0.22,59%CI 0.07-0.75,P=0.015）。UP3的高分值增加了PD患者合并抑郁的风险（OR=1.08,59%CI 1.02-1.15,P=0.009）。较长的病程增加了PD患者合并抑郁的风险（OR=1.15,59%CI 1.01-1.31,P=0.038）。rs363324的基因多态性并未增加PD合并抑郁的风险。结论 VMAT2的rs363371的AA基因型降低了汉族人群PD患者合并抑郁的风险。     

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。