Review
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World J Gastrointest Pathophysiol. Aug 15, 2014; 5(3): 335-343
Published online Aug 15, 2014. doi: 10.4291/wjgp.v5.i3.335
Epidemiological studies of esophageal cancer in the era of genome-wide association studies
An-Hui Wang, Yuan Liu, Bo Wang, Yi-Xuan He, Ye-Xian Fang, Yong-Ping Yan
An-Hui Wang, Bo Wang, Yong-Ping Yan, Department of Epidemiology, School of Public Health, Fourth Military Medical University, Xi’an 710032, Shaanxi Province, China
Yuan Liu, Clinic of Xi’an Communication College, Xi’an 710106, Shaanxi Province, China
Yi-Xuan He, Ye-Xian Fang, Medical Student of Fourth Military Medical University, Xi’an 710032, Shaanxi Province, China
Author contributions: Wang AH contributed to the conception, design, editing and revision of the manuscript; Liu Y, He YX and Fang YX contributed to drafting the article; Wang B and Yan YP contributed to manuscript review and revision.
Correspondence to: An-Hui Wang, Associate Professor, Department of Epidemiology, School of Public Health, Fourth Military Medical University, No. 169 Changle West Road, Xi’an 710032, Shaanxi Province, China. wanganhui@hotmail.com
Telephone: +86-29-84774871 Fax: +86-29-84774876
Received: January 27, 2014
Revised: April 17, 2014
Accepted: May 31, 2014
Published online: August 15, 2014
Processing time: 219 Days and 17.3 Hours
Abstract

Esophageal cancer (EC) caused about 395000 deaths in 2010. China has the most cases of EC and EC is the fourth leading cause of cancer death in China. Esophageal squamous cell carcinoma (ESCC) is the predominant histologic type (90%-95%), while the incidence of esophageal adenocarcinoma (EAC) remains extremely low in China. Traditional epidemiological studies have revealed that environmental carcinogens are risk factors for EC. Molecular epidemiological studies revealed that susceptibility to EC is influenced by both environmental and genetic risk factors. Of all the risk factors for EC, some are associated with the risk of ESCC and others with the risk of EAC. However, the details and mechanisms of risk factors involved in the process for EC are unclear. The advanced methods and techniques used in human genome studies bring a great opportunity for researchers to explore and identify the details of those risk factors or susceptibility genes involved in the process of EC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era to the era of genome wide association studies (GWAS). Here we review the epidemiological studies of EC (especially ESCC) in the era of GWAS, and provide an overview of the general risk factors and those genomic variants (genes, SNPs, miRNAs, proteins) involved in the process of ESCC.

Keywords: Esophageal cancer; Epidemiology; Genome wide association study; Single nucleotide polymorphism; MicroRNA

Core tip: Epidemiological study methods advance as the science and technique progress. In the era of genome wide association studies (GWAS), human genome epidemiology (HuGE) provide a great chance for epidemiologists and clinical scientists to explore the cause of disease and evaluate genomic biomarkers for diagnosis or prognosis. More and more epidemiological studies use GWAS methods to analyze genomic variants and the association with esophageal cancer. Here we review epidemiological studies of esophageal cancer in the era of GWAS, and briefly introduce the case-control study and cohort study methods in HuGE studies.