测序分析表明,复杂的遗传架构有助于脊柱二叉裂的风险
Madison Strain1, Melanie E Garrett1, Max Bucklan1
1Duke Molecular Physiology Institute, Duke University Medical Center, Durham, North Carolina, USA.
Birth defects research
|September 27, 2025
概括
这项研究研究了脊柱裂变 (SB) 的遗传风险因素,这是一个常见的神经管缺陷. 研究人员确定了16个关联基因,揭示了对SB的新见解.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 公共卫生 公共卫生
背景情况:
- 脊柱裂 (SB) 是一种常见的神经管缺陷 (NTD),具有复杂且不完全理解的遗传基础.
- 之前的研究在SB中发现了罕见的有害单核酸变体 (SNV),但更广泛的遗传风险贡献需要进一步调查.
研究的目的:
- 通过使用无偏的测序方法来调查脊柱裂 (SB) 中的共同遗传风险.
- 为了确定单个变异的关联,并评估SNVs在基因中的累积效应.
主要方法:
- 在 256 个 SB 试验组和 395 个对照组中对 46,887 个 SNV 进行了一项外基因组范围的关联研究 (ExWAS).
- 进行基因负担测试,使用所有变异和罕见变异 (MAF <0.05),在510个父母中重复测试,以评估突变负担.
主要成果:
- 确定了16个与SB相关的基因,包括SRCIN1,PDE4DIP和HLA-A.
- ExWAS发现了11个显著的SNV (9个常见的);负载测试揭示了7个基因 (4个显著的罕见变异).
- 五个与负担相关的基因没有被ExWAS检测到,四个在父母中显示丰富,这表明遗传风险.
结论:
- 这些发现为脊柱裂变的多因素遗传景观提供了新的见解.
- 突出了公正测序方法在开发神经管缺陷遗传模型的有用性.
更多相关视频
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.6K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
9.0K
相关概念视频
Genome-wide Association Studies-GWAS
15.3K
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...
15.3K
Pedigree Analysis
88.8K
Overview
88.8K
Epistasis Analysis
5.7K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.7K
Single Nucleotide Polymorphisms-SNPs
17.9K
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,...
17.9K
Next-generation Sequencing
97.8K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
97.8K
Human Genetics
1.5K
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...
1.5K
