注意缺陷多动障碍患儿COMT基因rs6267多态性分析

张跃兵; 罗学荣; 刘霞; 钟燕; 朱峰; 陈雷音

PDF(970 KB)

中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (2) : 127-130.

论著·临床研究

注意缺陷多动障碍患儿COMT基因rs6267多态性分析

张跃兵，罗学荣，刘霞，钟燕，朱峰，陈雷音

作者信息 +

Catechol-O-methyltransferase gene rs6267 polymorphism in children with attention deficit hyperactivity disorder

ZHANG Yue-Bing, LUO Xue-Rong, LIU Xia, ZHONG Yan, ZHU Feng, CHEN Lei-Yin

Author information +

文章历史 +

摘要

目的：分析儿茶酚胺氧位甲基转移酶（COMT）基因 rs6267 多态性位点与注意缺陷多动障碍（ADHD）的关联，寻找ADHD的易感基因。方法：采用聚合酶链反应-限制性片段长度多态性技术分析 114 例ADHD 儿童与 76 例正常对照组的 COMT 基因 rs6267 多态性位点频率，并用儿童行为量表（CBCL）评定儿童行为问题。结果：rs6267 多态性各基因型及等位基因在 ADHD 组和正常对照组之间的分布差异无统计学意义（P＞0.05）。基因型为G/G的ADHD患儿的思维问题和违纪问题（分别为1.7±1.9，4.5±3.7)明显多于基因型为G/T的患儿（分别为1.0±0.9，2.2±1.4）（P＜0.05）。结论：COMT 基因 rs6267 多态性可能不是 ADHD 的易感因素；rs6267 多态性可能与 ADHD 的某些临床特征有关。

Abstract

OBJECTIVE: To study the relationship between rs6267 polymorphism of catechol-O-methyltransferase (COMT) gene and attention deficit hyperactivity disorder (ADHD). METHODS: One hundred and fourteen children with ADHD and 76 normal volunteers were enrolled. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques were used for detecting COMT rs6267 polymorphism. The behavioral problems were assessed by Child Behavior Checklist (CBCL). RESULTS: There were no significant differences in the COMT genotype distribution and allele frequencies between the ADHD and normal control groups. The frequencies of thinking problems (1.7±1.9 vs 1.0±0.9) and disciplinary problems (4.5±3.7 vs 2.2±1.4) in ADHD children carrying genotype G/G were significantly higher than those in children carrying G/T (P＜0.05). CONCLUSIONS: COMT rs6267 polymorphism may not contribute to susceptibility to ADHD. However, there might be an association between rs6267 polymorphism and some clinical characters of ADHD.

导出引用

张跃兵, 罗学荣, 刘霞, 钟燕, 朱峰, 陈雷音. 注意缺陷多动障碍患儿COMT基因rs6267多态性分析[J]. 中国当代儿科杂志. 2011, 13(2): 127-130

ZHANG Yue-Bing, LUO Xue-Rong, LIU Xia, ZHONG Yan, ZHU Feng, CHEN Lei-Yin. Catechol-O-methyltransferase gene rs6267 polymorphism in children with attention deficit hyperactivity disorder[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(2): 127-130

中图分类号： R749.94

参考文献

［1］管冰清，罗学荣，邓云龙，韦臻，叶海森，袁秀洪，等. 湖南省中小学生精神障碍患病率调查［J］. 中国当代儿科杂志, 2010, 12(2): 123-127. ［2］Rietveld MJ, Hudziak JJ, Bartels M, van Beijsterveldt CE, Boomsma DI. Heritability of attention problems in children: cross-section all results from a study of twins, age 3-12 years［J］. Am Med Genet, 2003, 117B(1): 102-113. ［3］Qian Q, Wang Y, Zhou R, Li J, Wang B, Glatt S, et al. Family-based and case control association studies of catechol-O-methyltransferase in attention deficit hyperactivity disorder suggest genetic sexual dimorphism［J］. Am J Med Genet B Neuropsychiatr Genet, 2003, 118B(1): 103-109. ［4］Sengupta S, Grizenko N, Schmitz N, Schwartz G, Bellingham J, Polotskaia A, et al. COMT Val(108/158)Met polymorphism and the modulation of task-oriented behavior in children with ADHD［J］. Neuropsychopharmacology, 2008, 33(13): 3069-3077. ［5］Lee SG, Joo Y, Kim B, Chung S, Kim HL, Lee I, et al. Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans［J］. Hum Genet, 2005, 116: 319-328. ［6］Hong JP, Lee JS, Chung S, Jung J, Yoo HK, Chang SM, et al. New functional single nucleotide polymorphism(Ala72Ser) in the COMT Gene is associated with aggressive behavior in male schizophrenia［J］. Am J Med Genet Part B (Neuropsychiatr Genet), 2008, 147B(5): 658-660. ［7］American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorder ［M］.4th ed. Washington DC: American Psychiatric Association, 1994: 129-130. ［8］张作记. 行为医学量表手册［M］. 北京：中华医学电子音像出版社，2005: 455-459. ［9］Lotta T, Vidqren J, Tilqmann C, Ulmanen I, Melen K, Jalkunen I, et al. Kinetics of human soluble and membrane-bound catechol O-meth yltransferase: a revised mechanism and description of the thermolabile variant of the enzyme［J］. Biochemistry, 1995, 34(13): 4202-4210. ［10］Turic D, Williams H, Langley K, Owen M, Thapar A, O'Donovan MC. A family based study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD)［J］. Am J Med Genet Part B Neuropsychiatr Genet, 2005, 133B(1): 64-67. ［11］Song EY, Paik KC, Kim HW, Lim MH. Association between catechol-O-methyltransferase gene polymorphism and attention-deficit hyperactivity disorder in Korean population［J］. Genet Test Mol Biomarkers, 2009, 13(2): 233-236. ［12］Cheuk DK, Wong V. Meta-analysis of association between a catechol-O-methyltransferase gene polymorphism and attention deficit hyperactivity disorder［J］. Behav Genet, 2006, 36(5): 651-659. ［13］Eisenberg J, Mei-Tal G, Steinberg A, Tartakovsky E, Zohar A, Gritsenko I, et al. Haplotype relative risk study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD): association of the high-enzyme activity Val allele with ADHD impulsive-hyperactive phenotype［J］. Am J Med Genet, 1999, 88(5): 497-502. ［14］Cheon KA, Jun JY, Cho DY. Association of the catechol-O-methyltransferase polymorphism with methylphenidate response in a classroom setting in children with attention-deficit hyperactivity disorder［J］. Int Clin Psychopharmacol, 2008, 23(5): 291-298. ［15］Dempster EL, Mill J, Craig IW, Collier DA. The quantification of COMT mRNA in post mortem cerebellum tissue: diagnosis, genotype, methylation and expression［J］. BMC Med Genet, 2006, 7: 10. ［16］Strous RD, Lapidus R, Viglin D, Kotler M, Lachman HM. Analysis of an association between the COMT polymorphism and clinical symptomanology in schizophrenia［J］. Neurosci Lett, 2006, 393(2-3): 170-173. ［17］Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, et al. Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome［J］. Clin Genet, 2006, 69(3): 234-238.