整合功能评分和监管数据来预测非编码SNP在复杂神经疾病中的影响
Daniela Felício1,2,3, Miguel Alves-Ferreira1,3,4,5, Mariana Santos1,4
1Instituto de Investigação e Inovação em Saúde (i3S), Porto 4200-135, Portugal.
Briefings in functional genomics
|May 31, 2023
概括
本研究提出了一种工作流程,用于识别功能性非编码单核酸多态 (SNP) 在神经系统疾病,如偏头痛. 它优先考虑SNP影响基因表达,有助于理解复杂疾病遗传学.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 神经科学是一个神经科学.
背景情况:
- 大多数与疾病相关的单核酸多态 (SNP) 存在于非编码区域,但它们的功能影响尚不清楚.
- 了解非编码SNP对于破译疾病的复杂遗传贡献至关重要.
- 多基因神经系统疾病,如偏头痛,由于多种遗传因素的复杂相互作用而带来挑战.
研究的目的:
- 建立和展示一个工作流程,以优先考虑非编码SNP在神经疾病候选基因中的功能相关性.
- 将这种工作流应用于偏头痛,一个复杂的多因素疾病,并识别可能具有影响力的非编码变体.
- 预测优先级非编码SNP对基因表达和疾病易感性的功能后果.
主要方法:
- 开发了一个逐步的工作流程来分析非编码的SNP.
- 使用公共数据库,注释选定的SNP与监管要素的重叠.
- 使用预测算法和功能基因组学数据评估对基因表达的潜在影响.
- 专注于22个与偏头痛相关的神经传递和突触机械基因中的非编码SNP.
主要成果:
- 优先考虑22个与偏头痛易感性相关的非编码SNP.
- 确定了三个具有高监管潜力的新型非编码SNP:VAMP2_rs1150,STX1A_rs6951030和SNAP25_rs2327264.
- 预测的特定功能影响:VAMP2_rs1150可能会影响miRNA向,STX1A_rs6951030可能会改变转录因子结合,SNAP25_rs2327264可能是转录因子结合部位.
结论:
- 在复杂的神经疾病中,开发的工作流有效地优先考虑潜在的功能性非编码SNP.
- 已识别的SNP (VAMP2_rs1150,STX1A_rs6951030,SNAP25_rs2327264) 提供了对偏头痛病原学的见解.
- 这种方法有助于预测非编码变异的功能影响,推进多基因疾病的研究.
更多相关视频
04:41Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
19.0K
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
33.9K
相关概念视频
Genome-wide Association Studies-GWAS
13.7K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.7K
Neural Regulation
39.6K
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
39.6K
Single Nucleotide Polymorphisms-SNPs
15.3K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.3K
Comparing Copy Number Variations and SNPs
17.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.8K
