协会 之间的 A>G 多态性和敏感性 静脉形
Guitao Wu1, Xi Lin1, Hua Jiang1
1Department of Interventional Radiology and Vascular Anomalies, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, 510623, People's Republic of China.
International journal of general medicine
|February 15, 2024
概括
miR-100 rs1834306 A>G多态性与中国南部儿童的静脉形易感性无关. 需要对不同种群进行进一步的研究,以证实这些关于静脉形遗传标记的发现.
科学领域:
- 遗传学 是一个遗传学.
- 血管生物学 血管生物学
- 分子医学是分子医学.
背景情况:
- 静脉形涉及影响血管内皮细胞的遗传因素.
- 导致静脉形的特定遗传变异在很大程度上是未知的.
- 调查遗传多态度可能会揭示静脉形的敏感性标志物.
研究的目的:
- 评估miR-100 rs1834306 A>G多态性作为静脉形风险的潜在生物标志物.
- 要确定 rs1834306 A>G 变种是否会影响特定人群对静脉形的易感性.
主要方法:
- 一项病例对照研究对来自中国南部的1113名患者和1158名对照进行.
- 使用TaqMan实时PCR进行了miR-100 rs1834306 A>G多态的基因定型.
- 统计分析涉及多变量逻辑回归来评估与静脉形的关联.
主要成果:
- 在miR-100 rs1834306 A>G多态性和静脉形易感性之间没有发现显著的关联.
- 聚合的几率比率和95%置信区间没有表明这种遗传变异带来的风险.
- rs1834306 A>G多态性在不同的解剖部位中没有与静脉形相关.
结论:
- 在中国南部的儿童中,miR-100 rs1834306 A>G多态性与静脉形风险无关.
- 这些发现表明,这种特定的遗传标志物在这个队列中的静脉形发育中没有作用.
- 建议在不同种族群体进行进一步的验证,以确认miR-100 rs1834306在静脉形的作用.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
15.1K
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,...
15.1K
Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
Pleiotropy
40.4K
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,...
40.4K
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
MicroRNAs
3.0K
MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
3.0K
Genetic Lingo
102.8K
Overview
102.8K


