Research Papers: Gastrointestinal CancerMethyl-CpG binding domain 4 tagging polymorphisms and esophageal cancer risk in a Chinese populationYin, Juna,*; Shi, Yijuna,*; Zuo, Junbob; Tang, Weifenga; Wang, Limingc; Wang, Xua; Shao, Aizhonga; Ding, Guowena; Liu, Chaoa; Liu, Ruipingd; Chen, Suochenga; Gu, Haiyonga; Zheng, Liange Author Information Departments of aCardiothoracic Surgery bGeneral Surgery, Affiliated People’s Hospital of Jiangsu University cChemotherapy, Cancer Institute, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, Jiangsu dDepartment of Orthopedics, Affiliated Hospital of Nanjing Medical University, Changzhou Second People’s Hospital eDepartment of Cardiothoracic Surgery, The First People’s Hospital of Changzhou and The Third Affiliated Hospital of Suzhou University, Changzhou, China * Jun Yin and Yijun Shi contributed equally to the writing of this article. Correspondence to: Haiyong Gu, PhD, Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang 212000, China Tel: +86 511 85231018; fax: +86 511 85234387; e-mail: [email protected] Received January 19, 2014 Accepted July 30, 2014 European Journal of Cancer Prevention: March 2015 - Volume 24 - Issue 2 - p 100-105 doi: 10.1097/CEJ.0000000000000081 Buy Metrics Abstract In 2009, esophageal cancer was recorded as the fifth most commonly diagnosed cancer and the fourth leading cause of cancer-related death in China. Esophageal squamous cell carcinoma (ESCC) accounts for more than 90% of esophageal cancers. Genetic factors might play an important role in the carcinogenesis of ESCC. We conducted a hospital-based case–control study to evaluate the association between methyl-CpG binding domain 4 (MBD4) rs3138373 A>G, rs2005618 T>C, and rs3138355 G>A tag single nucleotide polymorphisms and the risk of developing ESCC. A total of 629 ESCC patients and 686 controls were recruited. Genotypes were determined using the ligation detection reaction method. When the MBD4 rs3138355 GG homozygous genotype was used as the reference group, the GA, AA, and GA/AA genotypes were not associated with ESCC risk. In the recessive model, when the MBD4 rs3138355 GG/GA genotypes were used as the reference group, the AA homozygous genotype was associated with a 28% decreased risk for ESCC (AA vs. GG/GA: adjusted odds ratio=0.72, 95% confidence interval=0.53–0.99, P=0.040). The MBD4 rs3138373 A>G and rs2005618 T>C single nucleotide polymorphisms were not associated with ESCC risk. The MBD4 rs3138355 G>A polymorphism was associated with a significantly decreased risk of ESCC among male and older patients. The MBD4 rs3138355 GG genotype was associated with a decreased risk of ESCC among male patients and the elderly. Additional, larger studies are required to confirm these current findings. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.