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DRD4 基因分型可能有助于区分注意缺陷多动障碍和迟钝认知加工速度障碍的症状。

DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo.

机构信息

Department of Medical Genetics, Balikesir Atatürk City Hospital, Balikesir, Turkey.

Department of Child and Adolescent Psychiatry, Ege University, Izmir, Turkey.

出版信息

Braz J Psychiatry. 2020 Nov-Dec;42(6):630-637. doi: 10.1590/1516-4446-2019-0630.

Abstract

OBJECTIVE

Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the prevalence of two variable-number tandem repeats (VNTRs) located within the 3'-untranslated region of the DAT1 gene and in exon 3 of the dopamine D4 receptor (DRD4) gene differ among four groups (31 subjects with SCT but no ADHD, 146 individuals with ADHD but no SCT, 67 subjects with SCT + ADHD, and 92 healthy controls).

METHODS

We compared the sociodemographic profiles, neurocognitive domains, and prevalence of two VNTRs in SCT and ADHD subjects versus typically developing (TD) controls.

RESULTS

The SCT without ADHD group had a higher proportion of females and lower parental educational attainment. Subjects in this group performed worse on neuropsychological tests, except for psychomotor speed and commission errors, compared to controls. However, the ADHD without SCT group performed significantly worse on all neuropsychological domains than controls. We found that 4R homozygosity for the DRD4 gene was most prevalent in the ADHD without SCT group. The SCT without ADHD group had the highest 7R allele frequency, differing significantly from the ADHD without SCT group.

CONCLUSION

The 7R allele of DRD4 gene was found to be significantly more prevalent in SCT cases than in ADHD cases. No substantial neuropsychological differences were found between SCT and ADHD subjects.

摘要

目的

减少注意力缺陷多动障碍(ADHD)异质性的研究增加了对迟钝认知节奏(SCT)概念的兴趣。本研究旨在调查位于 DAT1 基因 3'-非翻译区和多巴胺 D4 受体(DRD4)基因外显子 3 内的两个可变数目串联重复(VNTR)在四个组(31 名 SCT 但无 ADHD 的患者、146 名 ADHD 但无 SCT 的患者、67 名 SCT+ADHD 的患者和 92 名健康对照者)中的发生率是否存在差异。

方法

我们比较了 SCT 和 ADHD 患者与正常发育(TD)对照组的社会人口学特征、神经认知领域和两种 VNTR 的患病率。

结果

无 ADHD 的 SCT 组女性比例较高,父母受教育程度较低。与对照组相比,该组的神经心理学测试除运动速度和错误外,表现均较差。然而,无 SCT 的 ADHD 组在所有神经心理学领域的表现均显著差于对照组。我们发现,DRD4 基因的 4R 纯合子在无 SCT 的 ADHD 组中最为常见。无 SCT 的 ADHD 组的 7R 等位基因频率最高,与无 SCT 的 ADHD 组差异显著。

结论

DRD4 基因的 7R 等位基因在 SCT 病例中明显比在 ADHD 病例中更为常见。在 SCT 和 ADHD 患者之间未发现明显的神经心理学差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fd1/7678899/d7cdc8cd9eda/bjp-42-06-630-g001.jpg

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