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候选基因能否区分自闭症谱系障碍患者与注意力缺陷/多动障碍患者,是否存在终生物质使用障碍的影响?

Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders?

机构信息

Dimence Institute of Mental Health, Deventer, The Netherlands.

出版信息

World J Biol Psychiatry. 2010 Aug;11(5):699-708. doi: 10.3109/15622975.2010.480985.

Abstract

OBJECTIVE

Autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD) are developmental disorders that overlap in a number of domains, sometimes complicating clinical distinction between both disorders. Although there is some evidence for a genetic overlap, there are no reports on genes that could differentiate between ASD and ADHD. Furthermore, it is not known whether this genetic overlap is influenced by co-morbid substance use disorders (SUD).

METHODS

A total of 110 adult patients with ASD (n=61) or ADHD (n=49) with or without a lifetime history of SUD participated in a study in which we genotyped polymorphisms in five known candidate genes for (one of) the disorders, i.e. the 5HTTLPR in SLC6A4/5-HTT, rs1800497 (TaqIA C>T) in DRD2, rs7794745 in CNTNAP2, rs1843809 in TPH2, and rs6565113 in CDH13. Genotyping was by Taqman-based analysis or by simple sequence length analysis, where appropriate.

RESULTS

ASD could be differentiated from ADHD with nominal statistical significance by the 5HTTLPR, and the polymorphisms in TPH2 and CNTNAP2. The results were independent of lifetime SUD status.

CONCLUSIONS

Serotonergic genes could prove to play an important role in differentiating between ASD and ADHD, but the results of this exploratory study need replication.

摘要

目的

自闭症谱系障碍(ASD)和注意缺陷多动障碍(ADHD)是在多个领域重叠的发育障碍,有时会使两种疾病的临床鉴别复杂化。尽管有一些证据表明存在遗传重叠,但没有关于可以区分 ASD 和 ADHD 的基因的报告。此外,尚不清楚这种遗传重叠是否受共患物质使用障碍(SUD)的影响。

方法

共有 110 名患有 ASD(n=61)或 ADHD(n=49)的成年患者,无论是否有 SUD 的终生病史,均参与了一项研究,我们对五个已知的候选基因的多态性进行了基因分型(一种)疾病,即 SLC6A4/5-HTT 中的 5HTTLPR,DRD2 中的 rs1800497(TaqIA C>T),CNTNAP2 中的 rs7794745,TPH2 中的 rs1843809 和 CDH13 中的 rs6565113。基因分型采用 Taqman 分析或简单序列长度分析,视情况而定。

结果

ASD 可以通过 5HTTLPR 以及 TPH2 和 CNTNAP2 的多态性与 ADHD 进行名义上的统计学区分。结果与终生 SUD 状况无关。

结论

血清素能基因可能在区分 ASD 和 ADHD 方面发挥重要作用,但这项探索性研究的结果需要复制。

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