发现KYNU作为hidradenitis suppurativa的一个特征基因
Chen Liang1, Yue Yu1, Qinyu Tang2
1Department of Dermatology, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.
International journal of immunopathology and pharmacology
|November 24, 2023
概括
这项研究确定KYNU是 hidradenitis suppurativa (HS) 的关键基因,这是一种慢性炎症性皮肤疾病. 一个涉及MUC19,miR-382-5p和KYNU的新型调节途径为HS提供了潜在的治疗点.
科学领域:
- 皮肤病学 皮肤病学
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
背景情况:
- 补腺炎 (HS) 是一种慢性炎症性皮肤疾病,其病因不明.
- 对于HS患者而言,有效的治疗选择有限.
研究的目的:
- 确定HS病变发生过程中的关键基因和调节途径.
- 发现HS的潜在治疗点.
主要方法:
- 对HS样本的差异基因表达分析.
- 机器学习和权重基因共同表达网络分析 (WGCNA) 用于特征基因识别.
- 基因本体学 (GO),KEGG,Metascape和基因组变异分析 (GSVA) 用于丰富分析.
- CIBERSORT和ssGSEA用于免疫细胞透分析.
主要成果:
- 确定了29个差异表达基因 (DEGs),其中大部分在HS上升调节.
- 丰富性分析表明,它与免疫反应和细胞因子活性有关.
- 突出显示IL-17,类风湿性关节炎和TNF信号通路.
- 揭示了中性粒细胞,单细胞和CD8 T细胞的主要免疫透.
- 确定KYNU是HS的一个关键特征基因.
- 发现了59种HS治疗的潜在药物.
- 发现了MUC19_hsa-miR-382-5p_KYNU通路作为一个潜在的监管轴.
结论:
- KYNU 是一种与HS相关的显著特征基因.
- MUC19_hsa-miR-382-5p_KYNU ceRNA网络代表了HS的潜在监管途径.
更多相关视频
07:58qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
Published on: March 6, 2019
8.6K
12:49Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
14.0K
相关概念视频
Pleiotropy
40.5K
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,...
40.5K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Genome-wide Association Studies-GWAS
13.5K
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...
13.5K
NF-κB-dependent Signaling Pathway
7.5K
The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
NF-κB-dependent Signaling Mechanism
The...
7.5K
Epistasis
46.9K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
46.9K
Single Nucleotide Polymorphisms-SNPs
15.2K
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,...
15.2K
