基因水平关联分析方法_罗旭红.pdfVIP

HEREDITAS (Beijing) 2013 9 , 35(9): 1065 1071 ISSN 0253-9772 DOI: 10.3724/SP.J.1005.2013.01065 , , , 315211 (Genome wide association study, GWAS) , GWAS , GWAS , , (Single nucleotide polymorphism, SNP), SNP SNP SNP , ; ; ; SNP Advances on gene-based association analysis LUO Xu-Hong, LIU Zhi-Fang, DONG Chang-Zheng Department of Preventive Medicine , School of Medicine, Ningbo University, Ningbo 315211, China Abstract: Genome-wide association studies (GWAS) have been widely used for hunting the susceptibility genes for common diseases in the past years; however, the abundant information for the disease mechanism based on the GWAS data has not been fully mined. Recently, some researchers focused on the biological network and pathway analysis for the GWAS data to explore the potential disease mechanism. Since genes are the basic units for the biological network and pathway, the genetic effects from all or part of single nucleotide polymorphisms (SNPs) in the genes should be integrated into genetic scores, which are so-called “gene-based association analysis”. Gene-based association analysis takes into ac- count some important factors such as genetic effects of the SNPs, the number of the SNPs in the genes and the linkage dis- equilibrium structure of the SNPs. In this review, we will focus on the progress, principle and application of gene-base