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Basic Characteristics of Mutations
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Mutation Site
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G162852T |
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Mutation Site Sentence
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The three SNPs 162507C>T, 162852G>T and 162215C>A reaching genome-wide significance are labeled as green. |
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Mutation Level
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Nucleotide level |
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Mutation Type
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Gene/Protein/Region
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BALF2 |
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Standardized Encoding Gene
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BALF2
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Genotype/Subtype
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- |
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Viral Reference
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NC007605.1
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Functional Impact and Mechanisms
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Disease
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Nasopharyngeal Carcinoma
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Immune
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- |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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- |
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Treatment
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- |
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Location
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China |
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Literature Information
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PMID
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31209392
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Title
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Genome sequencing analysis identifies Epstein-Barr virus subtypes associated with high risk of nasopharyngeal carcinoma
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Author
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Xu M,Yao Y,Chen H,Zhang S,Cao SM,Zhang Z,Luo B,Liu Z,Li Z,Xiang T,He G,Feng QS,Chen LZ,Guo X,Jia WH,Chen MY,Zhang X,Xie SH,Peng R,Chang ET,Pedergnana V,Feng L,Bei JX,Xu RH,Zeng MS,Ye W,Adami HO,Lin X,Zhai W,Zeng YX,Liu J
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Journal
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Nature genetics
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Journal Info
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2019 Jul;51(7):1131-1136
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Abstract
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Epstein-Barr virus (EBV) infection is ubiquitous worldwide and is associated with multiple cancers, including nasopharyngeal carcinoma (NPC). The importance of EBV viral genomic variation in NPC development and its striking epidemic in southern China has been poorly explored. Through large-scale genome sequencing of 270 EBV isolates and two-stage association study of EBV isolates from China, we identify two non-synonymous EBV variants within BALF2 that are strongly associated with the risk of NPC (odds ratio (OR) = 8.69, P = 9.69 x 10(-25) for SNP 162476_C; OR = 6.14, P = 2.40 x 10(-32) for SNP 163364_T). The cumulative effects of these variants contribute to 83% of the overall risk of NPC in southern China. Phylogenetic analysis of the risk variants reveals a unique origin in Asia, followed by clonal expansion in NPC-endemic regions. Our results provide novel insights into the NPC endemic in southern China and also enable the identification of high-risk individuals for NPC prevention.
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Sequence Data
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MK540241-MK540470
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