Familial and large-scale case-control studies identify genes associated with nasopharyngeal carcinoma

Nasopharyngeal carcinoma (NPC) is an epithelial malignancy and has a remarkable geographic distribution, which is highly prevalent in southern China, Southeast Asia, and North Africa. Although most of the NPC are sporadic cases, the familial clustering of NPC has been demonstrated worldwide. Accumulating studies have proposed that the etiology of NPC is multi-stage and multi-factorial, involving genetic lesions, Epstein-Barr virus infection, and environmental exposure. Genetic variations result in differences in gene function, which in turn lead to different susceptibility to disease. Many studies have been carried out to dissect the genetic variants that contribute to NPC susceptibility. This article reviews the current progress of genetic studies to identify genes associated with NPC, focusing on the familial linkage and large-scale case-control study designs.