甲基基酸减少酶基因多态性作为冠状动脉疾病的危险因素
K Sowndarya1, Poornima A Manjrekar1, Ramya Shenoy2
1Department of Biochemistry, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575004 India.
Indian journal of clinical biochemistry : IJCB
|January 21, 2025
概括
与冠状动脉疾病 (CAD) 相关的高血型囊血症 (HHcy) 与MTHFR基因变异有关. 虽然MTHFRC677T在CAD患者中很常见,但其与HHcy水平的直接联系仍在争论中.
科学领域:
- 心血管遗传学 心血管遗传学
- 营养遗传学 营养遗传学
- 分子医学是分子医学.
背景情况:
- 超同胞蛋白血症 (HHcy) 是冠状动脉疾病 (CAD) 发展的一个公认的危险因素.
- 遗传变异,特别是在甲基基酸减少酶 (MTHFR) 基因中,涉及到HHcy的发病.
- MTHFR基因编码了一个关键的酶在homocysteine代谢.
研究的目的:
- 在CAD患者中审查和综合MTHFR基因多态和HHcy之间的关联的发现.
- 评估与CAD相关的特定MTHFR多态度 (C677T和A1298C) 的流行率.
主要方法:
- 在PubMed数据库中搜索了研究MTHFR基因多态化和CAD中的同类氨酸水平的研究.
- 确定了143篇文章,并选择了20项相关研究进行详细分析.
- 选择的研究评估了MTHFRC677T,MTHFRA1298C或两种遗传变异.
主要成果:
- 在所有包括CAD患者的研究中检测到MTHFRC677T多态性.
- 估计的同类氨酸 (Hcy) 水平从正常到升高 (HHcy) 不同.
- 研究发现,MTHFR基因多态化与CAD中的Hcy水平之间的关联在所有研究中都是有争议的.
结论:
- 在冠状动脉疾病患者中,MTHFR基因多态,特别是MTHFRC677T,很普遍.
- 在CAD中MTHFR基因变异和高血糖蛋白血的程度之间的直接相关性需要进一步调查.
- 澄清这种关系可能会为CAD预防和管理提供新的治疗策略的见解.
更多相关视频
07:00A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
10.0K
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
11.8K
相关概念视频
01:31Translation
141.4K
Lesson: Translation
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...
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...
141.4K
01:05Single Nucleotide Polymorphisms-SNPs
13.9K
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,...
13.9K
01:33Pleiotropy
39.6K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.6K
01:28Human Genetics
529
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...
529
02:26Comparing Copy Number Variations and SNPs
17.1K
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%...
17.1K
01:11Genome-wide Association Studies-GWAS
12.4K
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...
12.4K