Kent L, Doerry U, Hardy E, Parmar R, Gingell K, Hawi Z, Kirley A, Lowe N, Fitzgerald M, Gill M, Craddock N
Molecular Psychiatry Group, Division of Neuroscience, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Birmingham B15 2QZ, UK.
Mol Psychiatry. 2002;7(8):908-12. doi: 10.1038/sj.mp.4001100.
Reduced central serotonergic activity has been implicated in poor impulse regulation and aggressive behaviour in animals, adults and also young children.(1,2) Two recently published studies have implicated variation at a polymorphism in the promoter of the serotonin transporter (5HTT; hSERT) in influencing susceptibility to ADHD.(3,4) Consistent with these results we have also found a trend for the long allele of the promoter polymorphism to influence susceptibility to ADHD in a sample of 113 ADHD parent proband trios (65 transmissions vs 49 non-transmissions, chi(2) = 2.25, P = 0.13). A pooled analysis of our, and these published results demonstrated a significant over representation of the long allele of the promoter in ADHD probands compared to controls (chi(2) = 7.14, P = 0.008). We have also examined two other 5HTT polymorphisms (the VNTR in intron 2 and the 3' UTR SNP). TDT analysis demonstrated preferential transmission of the T allele of the 3' UTR SNP (chi(2) = 4.06, P = 0.04). In addition, ETDT analysis of haplotypes demonstrated significant preferential transmission of haplotypes containing the T allele of the 3' UTR SNP with the long allele of the promoter polymorphism (chi(2) = 13.18, 3 df, P = 0.004) and the 10 repeat of the VNTR (chi(2) = 8.77, 3 df, P = 0.03). This study provides further evidence for the possible involvement of the serotonin transporter in susceptibility to ADHD.
中枢5-羟色胺能活性降低与动物、成人及儿童的冲动控制不佳和攻击行为有关。(1,2)最近发表的两项研究表明,血清素转运体(5HTT;hSERT)启动子多态性的变异会影响对注意力缺陷多动障碍(ADHD)的易感性。(3,4)与这些结果一致,我们在113个ADHD患者-父母-先证者三联体样本中也发现,启动子多态性的长等位基因有影响ADHD易感性的趋势(65次传递对49次非传递,χ² = 2.25,P = 0.13)。对我们的研究结果与已发表结果进行的汇总分析表明,与对照组相比,ADHD先证者中启动子长等位基因的比例显著过高(χ² = 7.14,P = 0.008)。我们还研究了另外两个5HTT多态性(内含子2中的可变数目串联重复序列和3'非翻译区单核苷酸多态性)。传递不平衡检验(TDT)分析表明,3'非翻译区单核苷酸多态性的T等位基因存在优先传递(χ² = 4.06,P = 0.04)。此外,单倍型的扩展传递不平衡检验(ETDT)分析表明,包含3'非翻译区单核苷酸多态性T等位基因与启动子多态性长等位基因的单倍型存在显著优先传递(χ² = 13.18,自由度为3,P = 0.004),以及内含子2可变数目串联重复序列10次重复的单倍型也存在优先传递(χ² = 8.77,自由度为3,P = 0.03)。本研究为血清素转运体可能参与ADHD易感性提供了进一步证据。