在注意力缺陷多动性障碍中罕见的染色体删除和重复:全基因组分析
Nigel M Williams1, Irina Zaharieva, Andrew Martin
1MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK. williamsnm@cf.ac.uk
复制数变异 (CNVs) 在注意力缺陷多动症 (ADHD) 中显著增加,提供了ADHD不仅仅是社会构造的遗传证据. 这项研究强调了遗传因素在ADHD发展中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 人体生理学 人体生理学
背景情况:
- 副本数变异 (CNVs),即大量的染色体删除和重复,与神经发育障碍有关.
- 之前的研究已将CNV与类似于注意力缺陷多动障碍 (ADHD) 的疾病相关联.
研究的目的:
- 为了确定是否有增加的负担的NVs在患有ADHD的个体.
- 调查在ADHD中发现的CNV是否富含先前与自闭症和精神分裂症相关的遗传位置.
主要方法:
- 在410名患有多动症的儿童和1156名使用SNP基因定型的对照儿童中对CNV进行全基因组分析.
- CNV分析侧重于大 (>500 kb),罕见 (<1%人口频率) 变异.
- 在825名冰岛ADHD患者和35,243名对照患者的独立队列中复制发现.
主要成果:
- 与对照组 (0.075) 相比,在ADHD儿童中观察到大量,罕见的CNV的显著增加率 (0.156).
- 这种增加的CNV率在智力障碍者中尤为明显,但在没有智力障碍者中也存在.
- 在ADHD组中发现过多的16p13.11染色体重复,并在冰岛样本中复制. 在ADHD中,CNV对与自闭症和精神分裂症相关的位置进行了丰富.
结论:
- 这项研究提供了基因证据,支持在被诊断患有多动症的个体中增加大型CNV的发生率.
- 这些发现表明,ADHD具有显著的遗传成分,而不是纯粹的社会构造.
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