儿童注意缺陷多动障碍与5-羟色胺R2A基因多态性的相关性研究  

Association of 5-HT R2A Gene Polymorphism and Attention Deficit Hyperactivity Disorder in Children

作　　者：梁友芳[1] 农清清[2] 覃健敏[3] 韦宏旷[4] 郭尧平 范誉 班彩霞[5] 李慕军[1] 

机构地区：[1]广西医科大学第一附属医院,广西南宁市530021 [2]广西医科大学公共卫生学院 [3]南宁市疾病预防控制中心 [4]广西壮族自治区疾病预防控制中心 [5]广西壮族自治区妇幼保健院

出　　处：《中国全科医学》2016年第11期1287-1291,共5页Chinese General Practice

基　　金：国家自然科学基金资助项目(81360420);广西自然科学基金面上项目(2011GXNSFA018294);广西高等学校重点资助科研项目(201202ZD020)

摘　　要：目的探讨5-羟色胺(5-HT)R2A基因单核苷酸多态性与儿童注意缺陷多动障碍(ADHD)的关系。方法于2011年12月—2013年1月广西儿童ADHD流行病学抽样调查筛查出的ADHD患儿中,采用随机数字表法选取158例为病例组,另在与ADHD患儿同一聚居区非ADHD者中选择性别、年龄匹配的159例为对照组。取外周静脉血5 ml,提取DNA。根据Hap Map提供的存在于中国人群5-HT R2A基因的单核苷酸多态位点(SNPs)数据,及国内外相关文献,选择14个SNPs进行研究,并设计引物序列。PCR扩增,于反应终点判读基因型。结果病例组与对照组rs2770304、rs985934和rs6311位点的基因型分布不同,病例组CC/CT基因型频率高于对照组,TT基因型频率低于对照组,差异有统计学意义(P<0.05)。病例组rs2770304、rs985934、rs4941573、rs2070040、rs6313和rs6311位点关联等位基因频率高于对照组,差异有统计学意义(P<0.05)。rs1745837、rs3742279和rs2296972位点两两间存在强连锁不平衡(D'和r2均大于0.95),rs2770304、rs985934和rs4941573位点两两间存在较强连锁不平衡,rs2070040与rs6313、rs6311位点存在较强连锁不平衡。病例组单体型CCA、ACC频率高于对照组,单体型TTG、GTT频率低于对照组,差异均有统计学意义(P<0.05)。结论 5-HT R2A基因rs2770304、rs985934、rs4941573、rs2070040、rs6313和rs6311位点多态性及单体型CCA、ACC、TTG、GTT可能与儿童ADHD的发生有关。Objective To investigate the association between 5-HT R2A gene single nucleotide polymorphisms and attention deficit hyperactivity disorder（ ADHD）in children. Methods By random number table method,we enrolled 158 ADHD children as case group,from ADHD children found in the ADHD epidemiological sampling survey among children in Guangxi Province conducted from December 2011 to January 2013. We also enrolled 159 children without ADHD with matching genders and ages among normal population in the same residential areas of children with ADHD as control group. From each subject,5 ml peripheral venous blood was sampled,and DNA was extracted. According to the data about SNPs in the 5-HT R2A gene of Chinese provided by HapMap and relevant literature published at home and abroad,we selected 14 SNPs and designed primer sequence. After PCR amplification,genotypes were determined at the reaction endpoint. Results Case group and control group were significantly different in the genotype distribution of rs2770304,rs985934 and rs6311 locus;case group was higher in the frequency of CC/ CT genotype and lower in the frequency of TT genotype than control group（ P 〈 0. 05）. Case group was higher than control group in the frequency of alleles associated with rs2770304,rs985934,rs4941573,rs2070040,rs6313 and rs6311 locus（P 〈 0. 05）. Strong linkage disequilibrium existed among rs1745837,rs3742279 and rs2296972 locus（D＇ and r2 were both larger than 0. 95 ）,among rs2770304,rs985934 and rs4941573 locus,among rs2070040,rs6313 and rs6311 locus. Case group was higher in the haplotype frequency of CCA and ACC and lower in the frequency of haplotype TTG and GTT than control group（ P 〈 0. 05）. Conclusion The polymorphism of rs2770304,rs985934,rs4941573,rs2070040,rs6313 and rs6311 locus and haplotype CCA,ACC,TTG and GTT of 5-HT R2A gene may be correlated with ADHD in children.

关 键 词：注意力缺陷障碍伴多动 5-羟色胺 多态性 单核苷酸 连锁不平衡 

分 类 号：R742.89[医药卫生—神经病学与精神病学]