Attention-deficit hyperactivity disorder (ADHD) has been proposed to stem from multiple etiologies, perhaps genetic in nature with biological and psychosocial motivates. Tryptophan hydroxylase 2 (TPH2) and Reelin (RELN) genes may play a key role in triggering ADHD. The purpose of this case-controlled study was to explore the linkage of the genetic variants of TPH2 and RELN genes with ADHD. One hundred Egyptian children with ADHD and 105 age and sex matched controls constituted the study samples. Genotyping was performed for TPH2 (rs11179027; rs1843809) and RELN (rs736707; rs362691) gene polymorphisms using real time PCR assay. The alleles and genotype frequencies of TPH2 and RELN gene polymorphisms were assessed in all study participants. The frequencies of the alleles of TPH2 rs11179027 (OR = 1.75, 95% CI = 1.08–2.85, p = 0.022), TPH2 rs1843809 (OR = 3.67, 95% CI = 1.82–7.43, p = <0.001), and RELN rs736707 (OR = 1.61, 95% CI = 1.03–2.51, p = 0.035) were significantly associated with ADHD, while there was no significant difference between ADHD patients and controls regarding the frequency of RELN rs362691 (OR = 1.34, 95% CI = 0.73–2.48, p = 0.34). The frequencies of CTAG, CTGG, CTAC, CTGC, and GTAC haplotypes were significantly higher in ADHD patients than in controls (p = 0.011, 0.005, 0.015, 0.001, and 0.027, respectively). In conclusion, TPH2 rs11179027, TPH2 rs1843809, and RELN rs736707 gene alleles and haplotypes might be significantly correlated with the genetic susceptibility to ADHD in Egyptian children.

中文翻译：

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色氨酸羟化酶 2 和 Reelin 基因的遗传变异和单倍型可能与埃及儿童的注意力缺陷多动障碍有关。

已经提出注意缺陷多动障碍（ADHD）源于多种病因，可能是遗传性的，具有生物学和心理社会动机。色氨酸羟化酶 2 ( TPH2 ) 和 Reelin ( RELN ) 基因可能在触发 ADHD 中起关键作用。这项病例对照研究的目的是探索TPH2和RELN基因的遗传变异与 ADHD 的联系。一百名患有多动症的埃及儿童和 105 名年龄和性别匹配的对照组构成了研究样本。使用实时 PCR 分析对TPH2 (rs11179027; rs1843809) 和RELN (rs736707; rs362691) 基因多态性进行基因分型。等位基因和基因型频率在所有研究参与者中评估了TPH2和RELN基因多态性。TPH2 rs11179027 (OR = 1.75, 95% CI = 1.08–2.85, p = 0.022)、TPH2 rs1843809 (OR = 3.67, 95% CI = 1.82–7.43, p = <0.001)和RELN rs736707等位基因的频率(OR = 1.61, 95% CI = 1.03–2.51, p = 0.035) 与 ADHD 显着相关，而 ADHD 患者和对照组之间关于RELN rs362691的频率没有显着差异(OR = 1.34, 95% CI = 0.73 –2.48, p= 0.34)。ADHD 患者中 CTAG、CTGG、CTAC、CTGC 和 GTAC 单倍型的频率显着高于对照组（分别为p = 0.011、0.005、0.015、0.001 和 0.027）。总之，TPH2 rs11179027、TPH2 rs1843809和RELN rs736707基因等位基因和单倍型可能与埃及儿童多动症的遗传易感性显着相关。