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- Title
Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer.
- Authors
Humar, Bostjan; Graziano, Francesco; Cascinu, Stefano; Catalano, Vincenzo; Ruzzo, Anna M; Magnani, Mauro; Toro, Tumi; Burchill, Tudor; Futschik, Matthias E; Merriman, Tony; Guilford, Parry
- Abstract
Truncating mutations in the gene for the cell to cell adhesion protein E-cadherin are the most consistent genetic alterations observed in sporadic and hereditary diffuse gastric cancer (DGC). In addition to these inactivating mutations, a CDH1 promoter polymorphism at position -160 has been reported to lead to transcriptional downregulation of the gene in vitro. We therefore performed a case–control study to investigate whether this variant is associated with an increased susceptibility to DGC. The frequency of the -160A allele was significantly higher (P<0.005) in 53 diffuse gastric cancer cases compared to 70 matched controls. The odds ratio associated with the A-allele was 2.27 for CA-heterozygotes (95%CI 1.16–4.44) and 7.84 for AA-homozygotes (95%CI 2.89–21.24). Two additional polymorphisms (the 48+6T→C and the 2076C→T variant) were genotyped and shown to be equally distributed among cases and controls. Haplotype analysis with the three polymorphisms confirmed an association with disease (P<0.004). However, this analysis suggested the -160C→A CDH1 promoter polymorphism may be in linkage disequilibrium with a distinct aetiological locus or acts in combination with other functional variants in or near the CDH1 region.Oncogene (2002) 21, 8192–8195. doi:10.1038/sj.onc.1205921
- Subjects
CELL adhesion; HEREDITARY diffuse gastric cancer; ZYGOTES; CELLS
- Publication
Oncogene, 2002, Vol 21, Issue 53, p8192
- ISSN
0950-9232
- Publication type
Article
- DOI
10.1038/sj.onc.1205921