State Key Laboratory of Oncology in South China, Sun Yat-sen University Cancer Center, Guangzhou 510060, China.
Semin Cancer Biol. 2012 Apr;22(2):96-106. doi: 10.1016/j.semcancer.2012.01.012. Epub 2012 Feb 1.
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.
鼻咽癌（NPC）是一种上皮恶性肿瘤，具有显著的地理分布特征，在中国南方、东南亚和北非地区高发。虽然大多数 NPC 是散发病例，但 NPC 的家族聚集性已在全球范围内得到证实。越来越多的研究提出 NPC 的病因是多阶段和多因素的，涉及遗传损伤、EB 病毒感染和环境暴露。遗传变异导致基因功能的差异，进而导致对疾病的不同易感性。许多研究已经致力于剖析导致 NPC 易感性的遗传变异。本文综述了目前用于识别与 NPC 相关基因的遗传研究进展，重点介绍了家族连锁和大规模病例对照研究设计。
