Guo Xuan
Department of Computer Science and Engineering, University of North Texas, Denton, TX, United States.
Front Genet. 2020 Oct 30;11:507038. doi: 10.3389/fgene.2020.507038. eCollection 2020.
Taking advantage of the high-throughput genotyping technology of Single Nucleotide Polymorphism (SNP), Genome-Wide Association Studies (GWASs) have been successfully implemented for defining the relative role of genes and the environment in disease risk, assisting in enabling preventative and precision medicine. However, current multi-locus-based methods are insufficient in terms of computational cost and discrimination power to detect statistically significant interactions with different genetic effects on multifarious diseases. Statistical tests for multi-locus interactions (≥2 SNPs) raise huge analytical challenges because computational cost increases exponentially as the growth of the cardinality of SNPs in an interaction module. In this paper, we develop a simple, fast, and powerful method, named JS-MA, based on Jensen-Shannon divergence and agglomerative hierarchical clustering, to detect the genome-wide multi-locus interactions associated with multiple diseases. From the systematical simulation, JS-MA is more powerful and efficient compared with the state-of-the-art association mapping tools. JS-MA was applied to the real GWAS datasets for two common diseases, i.e., Rheumatoid Arthritis and Type 1 Diabetes. The results showed that JS-MA not only confirmed recently reported, biologically meaningful associations, but also identified novel multi-locus interactions. Therefore, we believe that JS-MA is suitable and efficient for a full-scale analysis of multi-disease-related interactions in the large GWASs.
利用单核苷酸多态性(SNP)的高通量基因分型技术,全基因组关联研究(GWAS)已成功用于确定基因和环境在疾病风险中的相对作用,助力实现预防医学和精准医学。然而,当前基于多位点的方法在计算成本和判别能力方面存在不足,难以检测出与多种疾病不同遗传效应具有统计学显著意义的相互作用。多位点相互作用(≥2个SNP)的统计检验带来了巨大的分析挑战,因为随着相互作用模块中SNP基数的增加,计算成本呈指数增长。在本文中,我们基于 Jensen-Shannon 散度和凝聚层次聚类开发了一种简单、快速且强大的方法,名为 JS-MA,用于检测与多种疾病相关的全基因组多位点相互作用。通过系统模拟,与现有最先进的关联映射工具相比,JS-MA 更具威力且效率更高。JS-MA 应用于类风湿性关节炎和 1 型糖尿病这两种常见疾病的真实 GWAS 数据集。结果表明,JS-MA 不仅证实了最近报道的具有生物学意义的关联,还识别出了新的多位点相互作用。因此,我们认为 JS-MA 适用于并高效用于大规模 GWAS 中多疾病相关相互作用的全面分析。