Li Jun, Wang Yufeng, Zhou Rulun, Zhang Haobo, Yang Li, Wang Bing, Faraone Stephen V
Institute of Mental Health, Peking University, Peking University Sixth Hospital, Beijing, PR China.
Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):14-9. doi: 10.1002/ajmg.b.30373.
Prior work has shown reduced serotonin transmission to be associated with impulsivity and behavioral problems. The current study assessed the association between ADHD and two variants of the serotonin transporter gene: the 44-bp deletion/insertion polymorphism (5-HTTLPR) and the 17 bp-repeat polymorphism in intron 2 (STin2.VNTR). We hypothesized that ADHD phenotypes associated with impulsivity would show an association with these variants. Two-hundred and ninety-three ADHD trios were genotyped and analyzed using transmission disequilibrium test (TDT) analysis and haplotype analysis. We found no association between the STin2.VNTR and ADHD, but did find preferential transmission of the S allele of the 5-HTTLPR polymorphism (chi(2) = 5.751, P = 0.016) to probands with ADHD. Haplotype analysis found the L/10 haplotype was over-transmitted (chi(2) = 6.172, P = 0.013), while L/12 was under-transmitted to probands with ADHD (chi(2) = 4.866, P = 0.027).
先前的研究表明，血清素传递减少与冲动性和行为问题有关。本研究评估了注意力缺陷多动障碍（ADHD）与血清素转运体基因的两个变体之间的关联：44碱基对缺失/插入多态性（5-HTTLPR）和内含子2中的17碱基重复多态性（STin2.VNTR）。我们假设，与冲动性相关的ADHD表型会与这些变体存在关联。对293个ADHD三联体进行基因分型，并使用传递不平衡检验（TDT）分析和单倍型分析。我们发现STin2.VNTR与ADHD之间没有关联，但确实发现5-HTTLPR多态性的S等位基因向ADHD先证者的优先传递（卡方 = 5.751，P = 0.016）。单倍型分析发现L/10单倍型过度传递（卡方 = 6.172，P = 0.013），而L/12单倍型向ADHD先证者的传递不足（卡方 = 4.866，P = 0.027）。
