Genetic analysis of a large multiplex Nasopharyngeal Carcinoma (NPC)family from S

一个大型多发性鼻咽癌 (NPC) 家族的遗传分析

• 批准号: 8474696
• 负责人: James Dowling MCKAY
• 金额: $ 5.41万
• 依托单位: INTERNATIONAL AGENCY FOR RES ON CANCER
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-05-25 至 2014-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8474696
• 关键词: Asians; Back; Biocompatible Materials; Blood specimen; Case-Control Studies; Collection; DNA; DNA Sequence; Disease; Environmental Risk Factor; Etiology; Exposure to; Family; Family member; Far East; First Degree Relative; Food Preservation; Founder Effect; Genealogy; Genes; Genetic; Genetic Markers; Genetic Predisposition to Disease; Genetic Risk; Genotype; High Prevalence; Human Herpesvirus 4; Incidence; Indonesia; Infectious Agent; International Agency for Research on Cancer; Interview; Life Style; Malaysia; Malaysian; Mutation; Nasopharynx Carcinoma; Oral; Play; Population; Predisposition; Prevalence; Questionnaires; Recording of previous events; Recruitment Activity; Role; Sarawak; Series; Singapore; Subgroup; Thailand; Work; base; cancer epidemiology; cancer genetics; density; environmental agent; exome; exome sequencing; genetic analysis; genetic linkage analysis; genetic pedigree; genetic variant; human disease; insight; interest; repository; trait

DESCRIPTION (provided by applicant): Nasopharyngeal carcinoma (NPC) has an extremely heterogeneous geographical and ethnic distribution. Environmental factors such as suboptimal food preservation and exposure to EBV appear involved in the etiology of NPC. Genetic susceptibility is also likely to be involved but the identity of the genes involved in susceptibiliy to NPC remains elusive. Isolated populations, particularly those with unusually high diseases prevalence, offer rare opportunities to investigate the genetic cause of human disease. The Bidayuh ethnic subgroup of Sarawak Malaysia has unusually high prevalence of NPC. We have identified one exceptionally large Bidayuh multiplex pedigree in which 26 NPC cases can be traced back to a single founding village. We have focused extensive recruitment of the NPC cases allowing the collection of blood samples from 11 of the NPC cases, and can to infer genetic information for an additional 7 NPC cases. This application aims to perform comprehensive genetic analysis of this pedigree using a combination of high density genotyping and direct whole exome DNA sequencing. The genes of interest identified in this exceptionally large pedigree will be validated and replicated in additional populations.

描述（由申请人提供）：鼻咽癌（NPC）具有极其异质的地理和种族分布。不良食品保存和接触 EBV 等环境因素似乎与 NPC 的病因有关。遗传易感性也可能参与其中，但与鼻咽癌易感性相关的基因的身份仍然难以捉摸。孤立的人群，特别是那些疾病患病率异常高的人群，为研究人类疾病的遗传原因提供了难得的机会。马来西亚沙捞越州的 Bidayuh 族群的鼻咽癌患病率异常高。我们已经确定了一个异常庞大的 Bidayuh 多重谱系，其中 26 例 NPC 病例可追溯到同一个创始村庄。我们重点广泛招募 NPC 病例，从 11 例 NPC 病例中采集血液样本，并可以推断另外 7 例 NPC 病例的遗传信息。该应用旨在结合高密度基因分型和直接全外显子组 DNA 测序，对该谱系进行全面的遗传分析。在这个异常庞大的谱系中识别出的感兴趣的基因将在其他群体中得到验证和复制。