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
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Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/ee819a9753a54ca2a0f945426e94214d
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spelling oai:doaj.org-article:ee819a9753a54ca2a0f945426e94214d2021-12-02T15:05:26ZGWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer10.1038/s41598-017-04822-22045-2322https://doaj.org/article/ee819a9753a54ca2a0f945426e94214d2017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-04822-2https://doaj.org/toc/2045-2322Abstract 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.Xin SongWen-Qing LiNan HuXue Ke ZhaoZhaoming WangPaula L. HylandTao JiangGuo Qiang KongHua SuChaoyu WangLemin WangLi SunZong Min FanHui MengTang Juan ZhangLing Fen JiShou Jia HuWei Li HanMin Jie WuPeng Yuan ZhengShuang LvXue Min LiFu You ZhouLaurie BurdettTi DingYou-Lin QiaoJin-Hu FanXiao-You HanCarol GiffenMargaret A. TuckerSanford M. DawseyNeal D. FreedmanStephen J. ChanockChristian C. AbnetPhilip R. TaylorLi-Dong WangAlisa M. GoldsteinNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
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
GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
description 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.
format article
author 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
author_facet 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
author_sort Xin Song
title GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
title_short GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
title_full GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
title_fullStr GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
title_full_unstemmed GWAS follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
title_sort gwas follow-up study of esophageal squamous cell carcinoma identifies potential genetic loci associated with family history of upper gastrointestinal cancer
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/ee819a9753a54ca2a0f945426e94214d
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