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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 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?

SUBMITTER: Song X

PROVIDER: S-EPMC5498542 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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

Song Xin X Li Wen-Qing WQ Hu Nan N Zhao Xue Ke XK Wang Zhaoming Z Hyland Paula L PL Jiang Tao T Kong Guo Qiang GQ Su Hua H Wang Chaoyu C Wang Lemin L Sun Li L Fan Zong Min ZM Meng Hui H Zhang Tang Juan TJ Ji Ling Fen LF Hu Shou Jia SJ Han Wei Li WL Wu Min Jie MJ Zheng Peng Yuan PY Lv Shuang S Li Xue Min XM Zhou Fu You FY Burdett Laurie L Ding Ti T Qiao You-Lin YL Fan Jin-Hu JH Han Xiao-You XY Giffen Carol C Tucker Margaret A MA Dawsey Sanford M SM Freedman Neal D ND Chanock Stephen J SJ Abnet Christian C CC Taylor Philip R PR Wang Li-Dong LD Goldstein Alisa M AM

Scientific reports 20170705 1

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 ...[more]

PMID: 28680059

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Project description:Gastrointestinal (GI) cytomegalovirus (CMV) disease is a major cause of morbidity and mortality in immunocompromised patients. Diagnosis of GI CMV disease mostly relies on endoscopy examination and histopathologic findings. There are limited data on the need for follow-up endoscopy with histopathologic examination in patients with upper gastrointestinal (UGI) CMV disease. All adult patients with confirmed and probable UGI CMV disease at a tertiary hospital over a 16-year period whose follow-up endoscopy was available were enrolled. The patients were classified as endoscopic responders if they showed complete or partial improvement on follow-up endoscopy, and as endoscopic nonresponders if there was no improvement or worsening. CMV tissue clearance was defined as absence of any visible CMV inclusion bodies, negative CMV immunohistochemistry and negative CMV polymerase chain reaction in follow-up biopsy tissues. During the study period, 77 patients with UGI CMV disease were analyzed. The median time to follow-up endoscopy was 19 days (interquartile range, 14-27). Of these 77 patients, 52 (68%) were classified as responders, and the remaining 25 (32%) as nonresponders. GI bleeding was more common in the nonresponders than the responders (36% vs 12%, respectively; P?=?0.02). There was no significant difference in CMV tissue clearance between the responders and nonresponders (56% vs 69%, respectively; P?=?0.38), median durations of treatment (20 days vs 21 days, respectively; P?=?0.48), and relapse rates (10% vs 8%, respectively; P?>?0.99). Multivariate analysis showed that the only independent predictive factor for relapse of CMV antigenemia or CMV GI disease was multiorgan CMV disease (odds ratio?=?12.4, 95% confidence interval 1.6-97.9; P?=?0.02). Endoscopic responses were obtained in about two-thirds of patients with UGI CMV disease 2 or 3 weeks after antiviral therapy. However, these follow-up endoscopic findings neither reflected CMV tissue clearance nor predicted disease relapse. These findings suggest that the routine follow-up endoscopy may not be warranted in patients with UGI CMV disease.

Dataset Information

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

Publications

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

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