开发和外部验证风湿性关节炎疼痛遗传风险评分
Katie J McMenamin1, Thomas R Riley2,3, Kristin Wipfler4
1Boston University Medical Center, Boston, MA.
Arthritis care & research
|June 30, 2025
概括
与疼痛相关的单核酸多态 (SNP) 相关的遗传风险得分与类风湿性关节炎 (RA) 疼痛和疾病活性相关. 这表明,对疼痛的遗传倾向会影响RA的临床结果,包括缓解.
科学领域:
- 遗传学 是一个遗传学.
- 类风湿病学 类风湿病学
- 疼痛医学 医学 疼痛医学
背景情况:
- 单核酸多态 (SNPs) 与慢性疼痛综合征有关.
- 了解对类风湿性关节炎 (RA) 疼痛的遗传贡献对于个性化治疗至关重要.
研究的目的:
- 调查遗传变异与类风湿性关节炎 (RA) 疼痛/疾病活动之间的关联.
- 开发和验证RA患者疼痛的遗传风险评分 (GRS).
主要方法:
- 利用两个独立的RA队伍 (FORWARD和VARA) 进行培训和验证.
- 根据36个与纤维肌痛相关的SNP计算了与疼痛相关的遗传风险评分 (GRS).
- 采用多变量线性回归和概括估计方程来分析GRS与疼痛和疾病活动的关联.
主要成果:
- 该研究包括来自FORWARD的756名参与者和来自VARA的2,176名参与者.
- 在VARA队列中,疼痛GRS的较高四分位数与基线疼痛的增加显著相关.
- 在VARA参与者的随访期间,高的GRS预测了更大的疼痛和更高的疾病活性.
结论:
- 来自与疼痛相关的SNP的遗传风险得分表明,与RA疼痛和疾病活动存在显著联系.
- 这些发现强调了遗传性疼痛倾向在治疗RA方面的临床相关性.
- 影响疼痛的遗传因素可能会影响治疗反应和在RA中实现缓解的可能性.
相关概念视频
Genome-wide Association Studies-GWAS
14.4K
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...
14.4K
The JAK-STAT Signaling Pathway
9.3K
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...
9.3K
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
70
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
70
Human Genetics
738
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...
738


