循环生物标记物与疾病风险的关联:一个双样本的门德尔随机化研究
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.
medRxiv : the preprint server for health sciences
|July 15, 2024
概括
门德尔随机化确定了葡萄糖和囊素C与双相情感障碍之间新的因果关系. 这项研究还证实了已知的生物标志物与疾病的关系,并突出了其他关于心血管疾病的情况.
科学领域:
- 遗传学和基因组学 在
- 生物标志物和诊断方法
- 个性化医疗是个性化的医疗.
背景情况:
- 循环生物标志物对于个性化医学至关重要,有助于疾病查,预防和治疗.
- 建立生物标志物和疾病之间的因果关系是复杂的.
- 门德尔随机化 (MR) 使用遗传仪器推断因果关系,使用多种方法提高可靠性.
研究的目的:
- 使用多种MR方法,研究212种循环生物标志物和99种复杂疾病之间的因果关系.
- 为了确定新的和确认已知的生物标志物和疾病的关联.
主要方法:
- 采用多种门德尔随机化 (MR) 技术:反变异加权,简单模式,加权模式,加权中位数和MR Egger.
- 利用了MR基础资源,分析了来自英国生物库和其他大规模遗传研究的数据.
- 评估了212种生物标志物与99种复杂疾病之间的关联.
主要成果:
- 鉴定出葡萄糖和双相情感障碍 (平均效果大小:0.39) 和囊素C和双相情感障碍 (平均效果大小: -0.31) 之间存在新的因果关系,至少有四种MR方法支持.
- 已确认的已知关联,包括尿酸与痛风和肌酸与慢性病.
- 发现了几种脂质生物标志物 (阿波蛋白B,胆固醇,LDL,脂质蛋白A,甘油三) 与冠心病和心肌梗塞等心血管疾病之间的潜在因果关系.
结论:
- 证实了生物标志物和疾病之间的现有因果关系.
- 发现了两种新的双相情感障碍的潜在因果生物标志物,需要进一步研究.
- 提供了有关疾病病因学的见解,以及改善精确诊断和干预的潜力.
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


