Similar to common diseases such as diabetes and hypertension, tuberculosis is a disease in which genetic predisposition is deeply involved. Linkage analysis, candidate gene association studies and animal models have been used to determine disease susceptibility genes to tuberculosis. Although many associated genes (NRAMP1, VDR, MBL and so on) have been reported thus far, the results are often inconsistent, partly because non-genetic host factors, environmental factors and virulence of pathogens also confer the risk and partly because systematic approaches have been adopted insufficiently. Genome wide association studies and large-scale international collaborative studies have recently been promoted, which are expected to identify high-risk individuals who develop the disease and to prevent tuberculosis effectively.