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

Ming-Hsin Yang³  Cheng-Ping Yu⁷  Horng-Jyh Harn²  Jyh-cherng Yu³  Tzu-Ming Chang⁶  Chen-Yang Shen¹  Yao-Chi Liu³  Hurng-Sheng Wu⁴  De-Chuan Chan³  Cheng-Jueng Chen³  Chi-Ming Chu⁵ 

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

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

Others  :  820088
DOI  :  10.1186/1477-7819-12-80

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

【 摘 要 】

Background

Findings 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.

Methods

We 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.

Results

Compared 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).

Conclusion

Based 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】

   
2014 Chu et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 9.

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