解偶联蛋白2基因启动子-866G／A多态性与2型糖尿病的相关性研究

研究解偶联蛋白-2基因启动子常见-866G／A基因多态性（UCP2—866G／A）与2型糖尿病发病相关性。用多聚酶链反应-限制内切酶长度多态性技术检测了76例非糖尿病对照（NDM）和115例糖尿病患者（DM）的UCP2—866G／A基因型分布,并分析各基因型与胰岛功能、代谢参数的差异性。结果DM的AA基因型分布显著高于NDM（32．2％vs15．8％,χ^2=6．526,P〈0．038）。在NDM组GG型携带者空腹C肽（FCP）水平高于AA和GG组（两两比较分别为t=2．99,P=0．005和t=2．229,P=0．03）;在DM各基因型之间FCP和餐后2小时C肽（2hCP）情况与NDM对照相似,各基因型混和餐刺激后2hCP差异更加明显。结论为UCP2—866G／A基因多态性与大连地区2型糖尿病发病相关,该基因多态性主要影响胰岛β细胞分泌功能。     

TPH2基因rs4570625多态性和母亲权威教养对创造力的交互作用

采用基因分型技术、自我报告及表现性评价对409名健康的中国汉族大学生的基因型、母亲教养方式、一般智力和创造力进行测量,综合运用分层回归分析和显著性区域分析（Regions of Significance, RoS）方法探讨了TPH2基因rs4570625多态性与母亲权威教养对创造力的交互作用及其交互作用模式。结果发现：（1）在创造力的流畅性和独创性维度上,rs4570625多态性和母亲权威存在显著的交互作用。（2）RoS分析结果均支持差别易感模型,T等位基因是母亲权威的“可塑性”基因。这些发现将有助于从遗传和环境相互作用的角度解释个体创造力差异的起源。     

COMT基因Val158Met多态性与同伴关系对青少年抑郁的影响

以1048名汉族青少年为被试,采用问卷法和基因分型技术,综合运用传统回归分析和新兴的再参数化回归分析,考察COMT基因Val158Met多态性与同伴关系对青少年抑郁的交互作用模式及其性别差异。结果发现,COMT基因与同伴接纳和同伴拒绝交互预测青少年抑郁,具体表现为,在低同伴接纳或高同伴拒绝环境中,携带ValVal基因型的青少年抑郁水平高于Met等位基因携带者;在高同伴接纳或低同伴拒绝环境中,携带ValVal基因型的青少年抑郁水平低于Met等位基因携带者。此外,COMT基因与同伴接纳和同伴拒绝的交互作用与男生抑郁的关联更加密切。结果显示,COMT基因与同伴关系的交互效应为不同易感性模型提供了证据,而且该基因×环境交互效应存在性别差异。     

COMT基因多态性与攻击行为的关系

攻击行为的发生具有重要的遗传学基础。近年来, 随着分子遗传学的发展, 对攻击行为发生机制的研究已经深入到分子水平, COMT基因成为攻击行为遗传学研究的候选基因之一, 然而以人类为被试的研究结论尚存在分歧, 甚至相互矛盾。通过回顾、梳理既有关于COMT基因多态性与个体攻击行为关系的研究, 剖析了研究结论尚存在分歧和矛盾的原因, 并在此基础上从SNP标记、被试群体、研究设计、神经生物机制等几个方面展望了未来研究的方向。     

反社会行为的遗传基础:基因多态性和DNA甲基化

反社会行为是受遗传与环境共同影响的不良行为。分子遗传学和神经生物学的研究发现,基因以基因多态性和DNA甲基化的方式影响脑结构、功能及脑内神经递质的产生和释放,进而影响反社会行为的发生发展。本文从基因多态性和DNA甲基化两方面整理了5-HTT、MAOA、OXTR等8个候选基因与反社会行为的关联。并提出未来研究需进一步探讨基因、脑和神经递质对反社会行为的联合作用。同时,扩展多基因位点、基因多态性与DNA甲基化、积极环境与基因交互作用对反社会行为影响的研究,以全面探索反社会行为发生的遗传基础,进而更加有效的预防反社会行为。     

Association of Catechol-O-Methyltransferase Polymorphism (Val108/158Met) With Parkinson's Disease: A Meta-Analysis

Parkinson's disease (PD) is a common neurodegenerative disease, the risk factors of which are gaining more attentions. Among all these risk factors, catechol-o-methyltransferase (COMT) has been widely studied, and believed to be associated with PD. However, the relationship between COMT polymorphism and PD has not been confirmed hitherto. Therefore, a meta-analysis was performed to evaluate the effect of COMT polymorphism on PD patients. A total of 24 study subjects comprising 3,807 patients with PD and 3,942 unrelated healthy controls were recruited in this meta-analysis. Heterogeneity testing and sensitivity analysis were conducted with Review Manager 5.0 software (The Nordic Cochrane Centre, The Cochrane Collaboration, Copenhagen, Denmark) and Stata software (StataCorp, College Station, TX), together with publication bias by funnel plot method and modified Egger's linear regression test. No evidences of publication bias and heterogeneity were detected. In the 24 studies, the estimated odds ratios (OR) in PD patients are 0.98 for the Met allele (95% confidence interval [0.92, 1.05]) under a fixed-effects model. The authors also conducted a stratified analysis according to geographic region among Europe, Asia, and North America, the ORs for the Met allele are 0.92, 1.02, and 1.10, respectively. According to the results of the meta-analysis, a conclusion could be drawn that polymorphism of Val108/158Met are not associated with the risk of PD. However, more convincing studies are warranted to have a solid conclusion supported.     

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

The 22q11.2 Deletion Syndrome (DiGeorge/velocardiofacial syndrome) is associated with elevated rates of psychosis, and is also characterized by severe attentional difficulties and executive dysfunction. Behavioral manifestations of this syndrome could result from haploinsufficiency of the catechol-O-methyltransferase (COMT) gene, located within the 22q11 region. The goal of the present study was to examine COMT genotype in relation to behavioral symptomatology in this syndrome. Val^158/108Met was genotyped in 38 patients (16 Met/-, 22 Val/-) with confirmed 22q11.2 deletions who had received the Child Behavior Checklist (CBCL) as part of a comprehensive evaluation. Results indicated that the Val genotype was associated with significantly greater internalizing and externalizing behavioral symptomatology in children with 22q11.2 deletions. Val allele status was associated with a greater-than-four-fold increase in risk for clinically significant behavior problems in children with this syndrome. These data are consistent with previous findings of increased psychopathology associated with the Val genotype in normal individuals and suggest that a functional genetic polymorphism in the 22q11 region may influence behavior in individuals with COMT haploinsufficiency.     

反社会行为的遗传基础:基因多态性和DNA甲基化

反社会行为是受遗传与环境共同影响的不良行为。分子遗传学和神经生物学的研究发现,基因以基因多态性和DNA甲基化的方式影响脑结构、功能及脑内神经递质的产生和释放,进而影响反社会行为的发生发展。本文从基因多态性和DNA甲基化两方面整理了5-HTT、MAOA、OXTR等8个候选基因与反社会行为的关联。并提出未来研究需进一步探讨基因、脑和神经递质对反社会行为的联合作用。同时,扩展多基因位点、基因多态性与DNA甲基化、积极环境与基因交互作用对反社会行为影响的研究,以全面探索反社会行为发生的遗传基础,进而更加有效的预防反社会行为。     

父母教养与MAOA基因rs6323多态性对学前儿童外化问题的共同作用

采用G×E交互作用的研究范式,以295名学前儿童（M=4.49）和其母亲、父亲作为研究对象,探讨母亲和父亲的教养方式与MAOA基因rs6323多态性对学前儿童外化问题行为的影响。结果发现：母亲、父亲教养方式和MAOA基因多态性对学前儿童外化问题行为的影响存在性别差异,预测男孩外化问题行为时,母亲和父亲教养方式的主效应显著,与MAOA基因多态性的交互作用不显著;在预测女孩外化问题行为时,父亲教养方式的主效应显著,母亲教养方式与MAOA基因多态性的交互作用显著,显著性区域分析发现,携带T等位基因的女孩更容易受到母亲消极教养的不利影响而产生更多外化问题行为,也更容易受到其积极教养的有利影响而减少外化问题行为,这一结果支持差别易感性理论模型。     

TNF-α和IL-6基因多态性与妊娠期糖尿病的相关研究

为探讨TNF-α和IL-6基因多态性在妊娠期糖尿病中的分布及其相关性,对照性检测了糖尿病及正常孕妇TNF-α和IL-6的基因型。结果显示：TNF-α的基因多态性与妊娠期糖尿病相关;TNF-α和IL-6基因多态性在妊娠期糖尿病中有协同作用,基因型之间的相互作用可能决定了妊娠期糖尿病的遗传易感性。