突转录全基因组相关性研究表明,关节炎风险的基础是新的基因
Shou-Ye Hu1,2, Feng Jiang2, Hui-Miao Song2
1Department of Joint Surgery, Honghui Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, P. R. China.
Rheumatology (Oxford, England)
|December 10, 2024
概括
这项研究确定了与类风湿性关节炎 (RA) 相关的突组织中的新基因. 这些发现进一步了解了RA的遗传基础,并提出了新的治疗点.
科学领域:
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
- 分子生物学分子生物学
背景情况:
- 突组织是类风湿性关节炎 (RA) 的首要目标,但基因表达数据有限.
- 了解突内遗传调节对于RA的发病过程至关重要.
研究的目的:
- 在突组织中识别与类风湿性关节炎 (RA) 相关的基因.
- 为了解决RA受影响的突膜中基因表达调节数据的稀缺性.
主要方法:
- 开发了用于突组织的基因表达预测模型,使用来自202个受试者的基因型和表达数据.
- 进行了一项全转录组关联研究 (TWAS),结合了最大的RA GWAS元分析 (n=276,2020).
- 进行了条件/联合分析,因果分析,差异表达和基因组丰富分析.
主要成果:
- 确定了8个与RA相关的基因,包括3个新型基因:TPRA1,HIP1和RP11-73E17.2.2.
- 发现了四个具有与RA显著因果关系的基因,以及RA患者的差异性表达.
- 发现突组织中识别的基因与其他组织中的基因有所不同,突出了组织特异性的作用.
结论:
- 这是第一个模拟RA突发性关节组织基因表达的研究.
- 发现了RA的新型遗传决定因素,提高了对其遗传结构的理解.
- 打开了针对性疗法和类风湿性关节炎药物重定向的道路.
相关概念视频
Genome-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
The JAK-STAT Signaling Pathway
8.7K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
8.7K
Single Nucleotide Polymorphisms-SNPs
14.0K
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,...
14.0K
Leaky Scanning
5.1K
During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R...
5.1K
Human Genetics
534
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...
534
Ribosome Profiling
3.5K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
3.5K


