基于SNP互作识别类风湿性关节炎的潜在致病基因

Identification of potential pathogenesis genes of rheumatoid arthritis based on the SNP interactions

目的探讨单核苷酸多态性(SNP)间的上位作用对类风湿性关节炎产生的影响。方法依据人类基因,复杂疾病相关信号通路,以及人类蛋白质互作网络识别3个不同层面互作的SNP对。采用Logistic回归模型来检测互作SNP与疾病的显著相关性。结果分析疾病相关SNP对,获得34个潜在的类风湿性关节炎疾病风险基因,其中5个为类风湿性关节炎已知疾病基因,16个已有文献证实为疾病风险基因。结论通过对SNP间上位效应的研究可获得类风湿性关节炎新的潜在疾病基因。

Objective To explore the role of the epistatic effects of single nucleotide polymorphism（ SNP） in rheumatoid arthritis. Methods Different SNP pairs for human genome,diseases related signaling pathways,as well as the human protein interaction network were built to identify three different levels of interaction of SNP pairs. Logistic regression model in Plink was used to detect interactions between SNP. Results Thirty-four potential disease genes of rheumatoid arthritis were identified by analyzing disease-associated SNP pairs,in which 5 were rheumatoid arthritis known disease genes,and in which 16 had been identified that were rheumatoid arthritis significant candidate genes. Conclusion Rheumatoid arthritis new potential candidate disease genes could be identified through the epistasis effect of SNPs.