注意缺陷多动障碍与突触体联系蛋白25基因的关联研究

目的 探讨中国汉族人群中注意缺陷多动障碍(ADHD)与突触体联系蛋白25(SNAP-25)基因微卫星(STR)和单核苷酸多态性(SNP)的关系.方法 本组100例,均为学龄期的ADHD患儿,通过唾液取样获取他们及其父母的DNA样本.同时选取符合年龄段的正常儿童97名作为对照组,DNA样本从血液中提取.检测100个ADHD核心家系和97个对照的SNAP-25基因STR,同时对rs363006和rs362549两段SNP进行基因分型,并进行病例对照的关联分析和传递不平衡检验(TDT).结果 SIR病例对照分析结果显示ADHD组和对照组(TAAA)n的等位基因频率和基因型频率差异无统计学意义(P均＞0.05);rs363006和rs362549两段SNP的家系TDT研究表明,SNAP-25基因和ADHD之间不存在关联(P均＞0.05).按照亚型分组后,rs362549在注意缺陷型中有优先传递等位基因A的趋势(x2=8.00,P＜0.01),而在混合型中有优先传递等位基因G的趋势(x2=4.122,P＜0.05).结论 SNAP-25基因STR和上述两段SNP和ADHD之间也许不存在关联,但rs362549这段SNP的多态性和ADHD亚型可能存在关联,尚需扩大样本进一步验证才能得出确切结论.

Association between SNAP-25 gene polymorphism and attention deficit hyperactivity disorder

Objective To analyse the association between polymorphism in human synaptosomal associated protein of 25 000 (SNAP-25)gene and attention deficit hyperactivity disorder (ADHD) in Han Chinese children.Methods The study samples were eomprised of 1130 integrated ADHD trios(included proband and biological parents)and 97 unrelated controls.Association of polymorphism with ADHD and its subtype was examined by:(1) comparing eases and controls;(2) using family-based association study in transmission disequilibrium test (TDT).Results Case-control analysis of short tandem repeat (STR) showed that there was no significant difference between the two groups in allele gene frequency and genotype frequency(P＞0.05 );TDT analysis of the rs363006 SNP and the rs362549 SNP revealed no association between SNAP-25 polymorphisms and ADHD(P＞0.05).But after a stratification by ADHD subtype,the rs62549 SNP A allele showed a tendency to preferentially transmitted to ADHD-I subtype(X2=8.00,P＜0.01);and the rs362549 SNP G allele had a tendency to preferentially transmitted to ADHD-C subtype (X2=4.122,P＜0.05).Conclusions No association was found between SNAP-25 polymorphiaras and ADHD.There was a possible association between rs362549 SNP polymorphism and ADHD subtypes,but the findings require replication before drawing a definitive conclusion.