Sun Yan, Wang Jing, Zhang Yaxuan, Shang Junliang, Liu Jin-Xing
College of Engineering, Qufu Normal University, Rizhao, Shandong, China.
School of Computer Science, Qufu Normal University, Rizhao, Shandong, China.
Hum Mutat. 2025 Jun 13;2025:7656300. doi: 10.1155/humu/7656300. eCollection 2025.
Epistatic interaction detection plays a pivotal role in understanding the genetic mechanisms underlying complex diseases. The effectiveness of epistatic interaction detection methods primarily depends on their interaction quantification measures and search strategies. In this study, a two-stage ant colony optimization algorithm based on composite multiscale part mutual information (ACOCMPMI) is proposed for detecting epistatic interactions. In the first stage, composite multiscale part mutual information is developed to quantify epistatic interactions, and an improved ant colony optimization algorithm incorporating filter and memory strategies is employed to search for potential epistatic interactions. In the second stage, an exhaustive search strategy and a Bayesian network score are adopted to further identify epistatic interactions within the candidate SNP set obtained in the first stage. ACOCMPMI is compared with five state-of-the-art methods, including epiACO, FDHE-IW, AntEpiSeeker, SIPSO, and MACOED, using simulation data generated from 11 epistatic interaction models. Furthermore, ACOCMPMI is applied to detect epistatic interactions in a real dataset of age-related macular degeneration. The experimental results show that ACOCMPMI is a promising method for epistatic interaction detection.
上位性相互作用检测在理解复杂疾病的遗传机制中起着关键作用。上位性相互作用检测方法的有效性主要取决于其相互作用量化度量和搜索策略。在本研究中,提出了一种基于复合多尺度部分互信息的两阶段蚁群优化算法(ACOCMPMI)用于检测上位性相互作用。在第一阶段,开发复合多尺度部分互信息来量化上位性相互作用,并采用一种结合过滤和记忆策略的改进蚁群优化算法来搜索潜在的上位性相互作用。在第二阶段,采用穷举搜索策略和贝叶斯网络得分来进一步识别在第一阶段获得的候选单核苷酸多态性(SNP)集合内的上位性相互作用。使用从11个上位性相互作用模型生成的模拟数据,将ACOCMPMI与五种最先进的方法进行比较,包括epiACO、FDHE - IW、AntEpiSeeker、SIPSO和MACOED。此外,将ACOCMPMI应用于检测年龄相关性黄斑变性的真实数据集中的上位性相互作用。实验结果表明,ACOCMPMI是一种有前途的上位性相互作用检测方法。