UCP2基因3'UTR I/D和A55V多态和神经管缺陷易感性之间的关联:系统性审查,元分析和试验顺序分析
Haokun Tian1,2, Zhen Guan1, Shen Li1
1Laboratory of Translational Medicine, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.
Frontiers in neurology
|July 31, 2024
概括
在中国人群中,UCP2基因3'UTR I/D多态,特别是D等位基因,增加神经管缺陷 (NTD) 风险. 需要进一步的研究来证实这些关于NTD易感性的发现.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 公共卫生 公共卫生
背景情况:
- 神经管缺陷 (NTD) 是一种严重的先天性异常.
- 特定基因多态性在NTD易感性中的作用是正在进行的研究领域.
- 解蛋白2 (UCP2) 基因变异可能会影响NTD风险.
研究的目的:
- 评估UCP2基因3'未翻译区域插入/删除 (3'UTR I/D) 与A55V多态性和神经管缺陷 (NTD) 易感性之间的关联.
- 通过元分析和试验顺序分析 (TSA) 综合现有证据.
主要方法:
- 系统的文献搜索到2023年10月.
- 包含的七项研究的元分析和TSA.
- 进行了子组,敏感性和出版偏差分析.
主要成果:
- UCP2 3'UTR I/D 多态表现出显著的异质性. DD基因型和D等位基因与增加NTD风险有关.
- 在A55V变异中没有发现显著的关联.
- 亚组分析表明,中国人群中ID基因型的风险增加.
结论:
- UCP2基因3'UTR I/D多态,特别是D等位基因,是中国人群中NTD的风险因素.
- A55V多态性与NTD风险没有显著关联.
- 建议进行进一步的高质量研究以验证.
相关概念视频
Neurulation
41.8K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
41.8K
Comparing Copy Number Variations and SNPs
17.7K
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%...
17.7K
Single Nucleotide Polymorphisms-SNPs
14.9K
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,...
14.9K
Genome-wide Association Studies-GWAS
13.3K
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...
13.3K
Translation
14.7K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
14.7K
Human Genetics
552
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...
552


