GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer

GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer

Abstract Based on our initial genome-wide association study (GWAS) on esophageal squamous cell carcinoma (ESCC) in Han Chinese, we conducted a follow-up study to examine the single nucleotide polymorphisms (SNPs) associated with family history (FH) of upper gastrointestinal cancer (UGI) cancer in ca...

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Autores principales: Xin Song, Wen-Qing Li, Nan Hu, Xue Ke Zhao, Zhaoming Wang, Paula L. Hyland, Tao Jiang, Guo Qiang Kong, Hua Su, Chaoyu Wang, Lemin Wang, Li Sun, Zong Min Fan, Hui Meng, Tang Juan Zhang, Ling Fen Ji, Shou Jia Hu, Wei Li Han, Min Jie Wu, Peng Yuan Zheng, Shuang Lv, Xue Min Li, Fu You Zhou, Laurie Burdett, Ti Ding, You-Lin Qiao, Jin-Hu Fan, Xiao-You Han, Carol Giffen, Margaret A. Tucker, Sanford M. Dawsey, Neal D. Freedman, Stephen J. Chanock, Christian C. Abnet, Philip R. Taylor, Li-Dong Wang, Alisa M. Goldstein
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/ee819a9753a54ca2a0f945426e94214d
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Sumario:Abstract Based on our initial genome-wide association study (GWAS) on esophageal squamous cell carcinoma (ESCC) in Han Chinese, we conducted a follow-up study to examine the single nucleotide polymorphisms (SNPs) associated with family history (FH) of upper gastrointestinal cancer (UGI) cancer in cases with ESCC. We evaluated the association between SNPs and FH of UGI cancer among ESCC cases in a stage-1 case-only analysis of the National Cancer Institute (NCI, 541 cases with FH and 1399 without FH) and Henan GWAS (493 cases with FH and 869 without FH) data (discovery phase). The top SNPs (or their surrogates) from discovery were advanced to a stage-2 evaluation in additional Henan subjects (2801 cases with FH and 3136 without FH, replication phase). A total of 19 SNPs were associated with FH of UGI cancer in ESCC cases with P < 10−5 in the stage-1 meta-analysis of NCI and Henan GWAS data. In stage-2, the association for rs79747906 (located at 18p11.31, P = 5.79 × 10−6 in discovery) was replicated (P = 0.006), with a pooled-OR of 1.59 (95%CI: 1.11-2.28). We identified potential genetic variants associated with FH of UGI cancer. Our findings may provide important insights into new low-penetrance susceptibility regions involved in the susceptibility of families with multiple UGI cancer cases.

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