从早期发育的综合性多omics数据来识别潜在的注意力缺陷/多动性障碍的基因和细胞类型
Shufen Jiao1, Li Bao1, Xiaowen Lu2
1Department of Depression, Wuhan Mental Health Center, Wuhan, Hubei, 430012, China.
BMC psychiatry
|July 31, 2025
概括
这项研究整合了遗传和基因表达数据,以识别新的ADHD相关基因,LSM6和RPS26,特别是涉及早期胎儿大脑发育和ADHD病变发生中的刺激神经元.
科学领域:
- 神经遗传学 神经遗传学
- 发育神经科学的发展神经科学.
- 精神病学基因组学 精神病学基因学
背景情况:
- 全基因组关联研究 (GWAS) 已经确定了许多注意力缺陷/多动症 (ADHD) 局部.
- 大多数已识别的位点位于非编码区域,阻碍了对ADHD病变的理解.
研究的目的:
- 使用基于总结数据的门德尔随机化 (SMR) 方法,将表达量化特征位置 (eQTL) 数据与ADHD GWAS 数据集成在一起.
- 通过细胞类型丰富分析识别参与ADHD病变的特定细胞类型.
主要方法:
- 应用SMR到eQTL数据来自大量的死后组织,胎儿大脑和诱导多能干细胞 (iPSC) 衍生的神经元.
- 整合了eQTL数据与ADHD GWAS数据.
- 进行了细胞类型丰富分析.
主要成果:
- 通过使用胎儿大脑和iPSC衍生的神经元eQTL数据,确定LSM6和RPS26与ADHD有显著关联.
- 来自胎儿大脑和iPSC衍生的神经元的基因在发育早期表达高;死后基因在发病前表达低.
- 基于SNP的ADHD遗传性在激发性谷氨酸性神经元中富含,在质细胞中富含较低.
结论:
- 发育性基因表达动态对于综合性ADHD分析至关重要.
- 遗传变异可能通过在早期神经发育期间改变胎儿大脑基因表达来影响ADHD.
更多相关视频
10:02Event Related Potentials ERPs and other EEG Based Methods for Extracting Biomarkers of Brain Dysfunction: Examples from Pediatric Attention Deficit/Hyperactivity Disorder ADHD
Published on: March 12, 2020
15.9K
12:21Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging
Published on: September 12, 2011
25.3K
相关概念视频
01:30Attention-Deficit/Hyperactivity Disorder
294
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
294
01:28Human Genetics
727
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
727
02:02Genomics
37.5K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
37.5K