循环生物标志物与疾病风险的关联:一个双样本的孟德尔随机化研究
Abdulkadir Elmas1, Kevin Spehar2,3,4,5, Ron Do1
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
International journal of molecular sciences
|July 13, 2024
概括
这项研究使用门德尔随机化 (MR) 来探索212个生物标志物和99种疾病之间的因果关系. 研究人员发现葡萄糖与双相情感障碍的cystatin C之间存在新的联系.
科学领域:
- 遗传学和个性化医学
- 发现生物标志物的发现.
- 在疾病病因学中的因果推断.
背景情况:
- 循环生物标志物对于个性化医学至关重要,但很难确定与疾病的因果关系.
- 门德尔随机化 (MR) 是一种强大的遗传方法,用于推断因果关系.
- 使用多种MR方法可以提高已识别的因果关联的可靠性.
研究的目的:
- 使用多种MR方法,研究广泛的循环生物标志物和复杂疾病之间的因果关系.
- 确定疾病的新型因果生物标志物,特别是双相情感障碍.
- 验证已知的生物标志物与疾病的关联,并探索心血管疾病的潜在因果关系.
主要方法:
- 采用多种门德尔随机化 (MR) 方法:逆方差加权,简单模式,加权模式,加权中位数和MR-Egger.
- 使用了MR-base资源 (v0.5.6) 来获取基因仪器数据.
- 分析了来自不同数据源的99种复杂疾病的212种循环生物标志物 (英国生物银行,Shin等人,Roederer等人,Kettunen等人,MRC IEU,日本生物银行).
主要成果:
- 确定了葡萄糖和双极性障碍 (平均效果大小:0.39) 和囊素C和双极性障碍 (平均效果大小: -0.31) 之间的新因果关系,得到了四种或更多的MR方法的支持.
- 已确认的已知关联:尿酸与痛风,肌酸与慢性病.
- 发现了心血管疾病的潜在因果关系:冠心病中的阿波利波蛋白B,胆固醇,LDL,脂蛋白A和甘油三;心肌梗塞中的脂蛋白A,LDL,胆固醇和阿波利波蛋白B.
结论:
- 该研究成功证实了已知的生物标志物与疾病的联系,并发现了两种新的双相情感障碍潜在因果生物标志物.
- 这些发现有助于了解循环生物标志物在疾病发展中的病因作用.
- 这些结果支持通过更好地了解生物标志物疾病途径来推进精确诊断和干预.
相关概念视频
Genome-wide Association Studies-GWAS
13.3K
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...
13.3K
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
125
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
125
Randomized Experiments
6.9K
The randomization process involves assigning study participants randomly to experimental or control groups based on their probability of being equally assigned. Randomization is meant to eliminate selection bias and balance known and unknown confounding factors so that the control group is similar to the treatment group as much as possible. A computer program and a random number generator can be used to assign participants to groups in a way that minimizes bias.
Simple randomization
Simple...
Simple randomization
Simple...
6.9K
Odds Ratio
123
The odds ratio (OR) is a statistical measure used extensively in epidemiology and research to quantify the strength of association between exposure and outcome across different groups. Unlike relative risk, which compares the probabilities of an event occurring, the odds ratio compares the odds of an event occurring in the exposed group to the odds of it occurring in the unexposed group. The odds, in this context, are calculated as the probability of the event happening divided by the...
123
Probability Laws
40.7K
Overview
40.7K
Mechanistic Models: Compartment Models in Individual and Population Analysis
36
Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least...
36


