CDH1 polymorphisms and haplotypes in sporadic diffuse and intestinal gastric cancer: a case–control study based on direct sequencing analysis

World Journal of Surgical Oncology

Research

Horng-Jyh Harn¹  Cheng-Ping Yu²  Chi-Ming Chu³  Hurng-Sheng Wu⁴  Jyh-cherng Yu⁵  De-Chuan Chan⁵  Yao-Chi Liu⁵  Cheng-Jueng Chen⁵  Ming-Hsin Yang⁵  Tzu-Ming Chang⁶  Chen-Yang Shen⁷ 

[1] Department of Pathology, China Medical University Hospital, No. 2, Yuhder Road, 40447, Taichung, Taiwan;Department of Pathology, Tri-Service General Hospital, National Defense Medical Center, No. 325, Sec. 2, Cheng-Kung Road, 11490, Taipei, Neihu, Taiwan;Division of Biostatistics and Informatics, Department of Epidemiology, School of Public Health, National Defense Medical Center, No. 161, Sec. 6, Min-Quan E. Road, 11490, Taipei, Neihu, Taiwan;Division of General Surgery, Department of Surgery, Show Chwan Memorial Hospital, No. 6-1, Lugong Road, 50005, Lukang Township, Changhua, Taiwan;Division of General Surgery, Department of Surgery, Tri-Service General Hospital, National Defense Medical Center, No. 325, Sec. 2, Cheng-Kung Road, 11490, Taipei, Neihu, Taiwan;Division of General Surgery, Department of Surgery, Tungs’ Taichung MetroHarbor Hospital, No. 699, Sec. 8, Taiwan Blvd., 43502, Taichung City, Wuqi District, Taiwan;Institute of Biomedical Sciences, Academia Sinica, No. 128, Sec. 2, Academy Road, 11529, Taipei, Nangang, Taiwan;

关键词: CDH1;    Direct sequencing;    Haplotypes;    Single-nucleotide polymorphisms;    Sporadic diffuse and intestinal gastric cancer;   

DOI  :  10.1186/1477-7819-12-80

 received in 2013-10-18, accepted in 2014-02-10,  发布年份 2014

来源: Springer

【 摘 要 】

BackgroundFindings related to the influence of the −160C → A promoter polymorphism and haplotypes of the E-cadherin (CDH1) gene have not been consistent in previous studies regarding the risk for sporadic gastric cancer. Investigators in most previous studies detected those genotypes using restriction fragment length polymorphism analysis. Therefore, we conducted a case–control study to investigate the association of the CDH1 − 160C → A promoter polymorphism and haplotypes for cancer risk related to sporadic diffuse and intestinal gastric cancer by direct sequencing analysis.MethodsWe included 107 diffuse gastric cancer cases, 60 intestinal gastric cancer cases and 134 controls. The genotypic polymorphisms in the −160 promoter region, exons and intron–exon boundaries of CDH1 were detected by direct sequencing analysis. Genotype frequencies were compared. The CDH1 − 160C → A promoter polymorphism and four polymorphisms (48 + 6 T → C, 2076C → T, 2253C → T and 1937–13 T → C) were included in the haplotype analyses, which were estimated using the expectation–maximization algorithm.ResultsCompared to controls, the frequency of the −160A allele was significantly higher in diffuse gastric cancer cases (P = 0.005), but it was not significantly different in intestinal gastric cancer cases (P = 0.119). Two sets of three-marker haplotypes (−160C → A, 48 + 6 T → C, 2076C → T and −160C → A, 1937–13 T → C, 2253C → T) were associated with the risk of diffuse gastric cancer (P = 0.011 and P = 0.042, respectively).ConclusionBased on direct sequencing analysis, our findings suggest that the CDH1 − 160C → A promoter polymorphism and haplotypes play significant roles in cancer risk for sporadic diffuse gastric cancer, but not for intestinal gastric cancer, in a Taiwanese population.

【 授权许可】

Unknown   
© Chu et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.