Multinodular goiter is a worldwide-distributed disease, but yet its pathology and genetic etiology are not clear. At present, most researches have been restrained to traditional epidemiological survey and the disease has been rarely studied at the level of molecular genetics. The pathogenesis of multinodular goiter, as is generally accepted by most researchers, can be attributed to many factors such as hormones, growth factors and the inherent functional heterogeneity of thyroid follicles. Since hormone and iodine metabolization are widely recognized as a major mechanism in determining the formation of multinodular goiter, some reports in literature are mainly focused on such genes that are responsible for hormone synthesis and iodine metabolization. Mapping experimental data were available to support location of multinodular goiter gene(s) onto chromosome 14q by whole genome scanning in a large pedigree analysis. Additional data, particularly those extracted from large scaled marker-assisted mapping experiments, are important so as to confirm the gene location, to improve resolution of the location, and finally to dissect the genes underlying the disease at molecular level.