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。     

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。     

COMT基因rs6267多态性与青少年期亲子亲合与冲突的关系：性别与父母教养行为的调节作用分析

采用基因－环境设计, 以208名初中生为被试, 系统考察COMT基因rs6267多态性与青少年期亲子亲合与冲突的关系, 以及性别与父母教养行为在其中的调节作用。结果显示rs6267多态性对亲子关系无显著主效应, 但其与亲子亲合、母子情绪冲突的关联模式在男女青少年群体中相反; rs6267多态性与父母积极教养行为对亲子关系无显著交互作用, 但其与母亲消极教养行为对母子冲突具有交互作用趋势。     

人类情绪记忆的行为遗传学与神经遗传学研究进展述评

情绪记忆及其增强效应存在广泛的个体差异,这种个体差异可能有其神经与遗传基础。近来的行为遗传学与神经遗传学证实人类ADRA2B基因缺失突变以及BDNF Val66Met基因的多态性与情绪记忆增强及其神经机制的个体差异相联系。本文重点介绍与人类情绪记忆相关的这两种基因,梳理了行为与神经遗传学研究的最新进展,指出未来应关注更多候选基因,并重视多个脑区之间的交互作用;还应使用情绪面孔刺激探索BDNF Val66Met基因多态性对情绪记忆编码和提取的影响等。     

修复基因XRCC4启动子-1394多态性与胃癌关联性的研究

XRCC4基因是一个非常重要的DNA损伤修复基因,在维持基因组的完整性与稳定性方面起着重要的作用,有效预防肿瘤的发生。本研究选取了210例胃癌患者及254例性别、年龄相匹配的正常对照者进行研究,采用限制性片段长度多态性方法,明确胃癌患者及正常对照者基因型。XRCC4基因启动子-1394多态性两组间有显著差异。XRCC4基因启动子-1394多态性的G等位基因频率,胃癌组明显高于正常对照组（OR=2．35,95％CI=1．24～4．46,P=0．007）;基因型频率胃癌组与正常对照组有显著差异（P=0．008）：携带基因型TG的个体比TT的个体罹患胃癌的风险提高了2．46倍（95％CI=1．27—4．76）。总之,XRCC4基因启动子-1394位点的G等位基因在胃癌的发生过程中起着至关重要的作用。     

负性生活事件与青少年早期抑郁的关系：COMT基因Val158Met多态性与父母教养行为的调节作用

采用环境×基因×环境(E×G×E)研究设计, 以637名青少年为被试, 考察了负性生活事件、COMT基因Val158Met多态性和父母教养行为对青少年早期抑郁的影响。结果发现：负性生活事件对青少年早期抑郁具有显著正向预测作用, 且COMT基因Val158Met多态性和父亲积极教养行为在其中起调节作用, 但该调节作用仅存在于男青少年群体中：在携带Val/Val基因型的男青少年中, 当父亲积极教养行为水平较低时, 青少年的抑郁水平随负性生活事件的增多而显著上升, 当父亲积极教养行为水平较高时, 负性生活事件对抑郁无显著预测作用; 在携带Met等位基因的男青少年中, 上述交互作用不显著。     

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。     

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.     

5-HTTLPR基因多态性和早期养育压力对学前儿童问题行为的影响

本研究拟探讨5-HTTLPR基因多态性与母亲早期养育压力对中国汉族学前儿童问题行为的交互作用机制和性别差异。355名6个月婴儿及其父母参加了本研究。在婴儿6个月时，收集婴儿的口腔脱落细胞和母亲养育压力数据；在48个月时，再次邀请父母分别报告儿童的问题行为。结果发现：（1）当母亲养育压力较高时，s/s和s/l型男孩的外显问题行为显著高于l/l型男孩；但当母亲养育压力较低时，两组男孩没有显著差异；（2）当母亲养育压力较高时，l/l型女孩的内隐问题行为显著高于s/s和s/l型女孩；但当母亲养育压力较低时，两组女孩没有显著差异。研究结果表明，5-HTTLPR基因多态性与母亲养育压力在预测男孩外显问题行为和女孩内隐问题行为时的交互作用机制均支持素质-压力模型。