Department of Psychiatry, The State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, China.
Department of Psychiatry, Kwai Chung Hospital, Hospital Authority, Hong Kong, China.
Ann Hum Genet. 2024 Sep;88(5):382-391. doi: 10.1111/ahg.12560. Epub 2024 Apr 16.
To investigate the association of attention-deficit/hyperactivity disorder (ADHD) with the 48-base pair (bp) variable number of tandem repeats (VNTR) in exon 3 of the dopamine receptor D4 (DRD4) gene, we genotyped 240 ADHD patients and their parents from Hong Kong. The 4R allele was most common, followed by 2R. We examined association between the 2R allele (relative to 4R) and ADHD by Transmission Disequilibrium Test (TDT). The odds ratio (OR) (95% confidence interval) was 0.90 (0.64-1.3). The p-value was 0.6. Examining subgroups revealed nominally significant association of 2R with inattentive ADHD: OR = 0.33 (0.12-0.92) and p = 0.03. Because our study used TDT analysis, we meta-analyzed the association of 2R with ADHD in Asians (1329 patient alleles), revealing results similar to ours: OR = 0.97 (0.80-1.2) and p = 0.8. To examine the association of 2R with inattentive ADHD, we meta-analyzed all studies (regardless of analysis type or ethnicity, in order to increase statistical power): 702 patient alleles, 1420 control alleles, OR = 0.81 (0.57-1.1) and p = 0.2. Overall, there is no evidence of association between ADHD and the 2R allele, but the suggestive association with the inattentive type warrants further investigation.
为了研究注意缺陷多动障碍（ADHD）与多巴胺受体 D4（DRD4）基因外显子 3 中的 48 碱基对（bp）可变串联重复（VNTR）之间的关联，我们对来自香港的 240 名 ADHD 患者及其父母进行了基因分型。4R 等位基因最为常见，其次是 2R。我们通过传递不平衡测试（TDT）检查了 2R 等位基因（相对于 4R）与 ADHD 之间的关联。比值比（OR）（95%置信区间）为 0.90（0.64-1.3）。p 值为 0.6。检查亚组发现，2R 与注意力不集中型 ADHD 之间存在显著关联：OR=0.33（0.12-0.92），p=0.03。由于我们的研究使用了 TDT 分析，因此我们对亚洲人（1329 个患者等位基因）中 2R 与 ADHD 的关联进行了荟萃分析，结果与我们的结果相似：OR=0.97（0.80-1.2），p=0.8。为了检查 2R 与注意力不集中型 ADHD 的关联，我们对所有研究进行了荟萃分析（无论分析类型或种族如何，以增加统计效力）：702 个患者等位基因，1420 个对照等位基因，OR=0.81（0.57-1.1），p=0.2。总体而言，没有证据表明 ADHD 与 2R 等位基因有关，但与注意力不集中型的提示性关联需要进一步研究。
