应用Bayesian方法评估~（308）TNF- $α$ SNP诱发冠心病的概率
A Bayesian approach to the probability of coronary heart disease subject to the --308 tumor necrosis factor-$α$ SNP
摘要：
我们研究了肿瘤坏死因子α（TNF- $α$）基因-308位点单核苷酸多态性（SNP）与冠心病（CHD）发生的相关性。我们还考虑了2型糖尿病（t2 DM）发生的影响。使用贝叶斯推断，我们首先追求一个自下而上的方法来计算工作假设和概率推导出的数据。然后，我们追求一个自上而下的方法，通过建模的信号通路，因果关系连接的SNP与冠心病的出现。我们计算的功能形式的冠心病的概率条件的SNP的存在下，在统计和生化性质的系统。从一个给定的风险因素条件下的疾病发生的概率，我们探讨了提取信息的可能性，参与疾病的发生的途径。这是第一个研究，我们希望系统化成一个全面的形式主义，以应用于推理的机制连接的风险因素的疾病。
英文摘要：
We study the correlation of the occurrence of coronary heart disease (CHD) with the presence of the single-nucleotide polymorphism (SNP) at the -308 position of the tumor necrosis factor alpha (TNF-$α$) gene. We also consider the influence of the occurrence of type 2 diabetes (t2DM). Using Bayesian inference, we first pursue a bottom-up approach to compute the working hypothesis and the probabilities derivable from the data. We then pursue a top-down approach by modelling the signal pathway that causally connects the SNP with the emergence of CHD. We compute the functional form of the probability of CHD conditional on the presence of the SNP in terms of both the statistical and biochemical properties of the system. From the probability of occurrence of a disease conditional on a given risk factor, we explore the possibility of extracting information on the pathways involved in the occurrence of the disease. This is a first study that we want to systematise into a comprehensive formalism to be applied to the inference of the mechanism connecting the risk factors to the disease.
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