Characterization of DNA polymorphisms in the E-cadherin gene (CDH1) promoter region

Nakamura, Akihiro; Shimazaki, Tomoe; Kaneko, Kazuhiro; Shibata, Minoru; Matsumura, Takuya; Nagai, Maho; Makino, Reiko; Mitamura, Keiji

doi:10.1016/s0027-5107(02)00024-6

Cited by 59 publications

(47 citation statements)

References 18 publications

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“…Shin et al (23) reported that the À347del allele increased the transcriptional efficiency of E-cadherin in several cell lines (AGS, CV-1, HeLa, KATO-III, and Sun-719) compared with the À347A allele. However, Nakamura et al (41) reported that variants À347del and À347A displayed the same promoter activity in the CV-1 cell line. The promoter fragment (À647-+147 or À410-+125) they used did not cover the +178 and +234 alleles, which we found linked with the À347 allele almost completely.…”

Section: Discussionmentioning

confidence: 99%

Genetic Polymorphisms of the E-Cadherin Promoter and Risk of Sporadic Gastric Carcinoma in Chinese Populations

Zhang¹,

Pan²,

Liu³

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Frequent mutations and loss of expression of E-cadherin have been reported in a number of cancers. E-cadherin germ line mutations lead to a high risk of familial diffused gastric carcinoma. In the present study, to evaluate the effect of genetic polymorphisms in the E-cadherin promoter on the risk of sporadic gastric carcinoma (SGC), a comprehensive study was conducted in two populations with high and low risk of SGC in China, respectively. Five hundred seventytwo SGC cases and 625 controls from low-risk area and 589 individuals enrolled in a long-term follow-up survey in high-risk area were studied. Polymorphisms of E-cadherin around transcription start site (À437 to +314) were analyzed by sequencing. Five variations of À347del>A, À160C>A, À73A>C, +178T>C, and +234 13N ins>del were linked tightly. The À347del/del and its strongly linked +178T/T, +234 13N ins/ins genotypes increased male SGC risk in the high-risk area significantly [odds ratio (OR), 2.22; 95% confidence intervals (95% CI), 1.10-4.46] and correlated with the severity of gastric lesions. A synergetic effect was also observed between À347del/del genotype and Helicobacter pylori infection (OR, 4.93; 95% CI, 1.65-14.71). Compared with À347del-containing haplotypes, the À347A-containingdecreased the risk of SGC among male subjects (OR, 0.61; 95% CI, 0.37-1.01). Such correlation could not be observed among subjects from the low-risk area. The present data suggest that the À347del allele of E-cadherin strongly links with the +178T and +234 13N ins alleles. The À347del/del genotype may increase the susceptibility of SGC among males in the high-risk area of China. (Cancer Epidemiol Biomarkers Prev 2008;17(9):2402 -8)

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Section: Discussionmentioning

confidence: 99%

Genetic Polymorphisms of the E-Cadherin Promoter and Risk of Sporadic Gastric Carcinoma in Chinese Populations

Zhang¹,

Pan²,

Liu³

et al. 2008

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…For -160 C>A, only 39 studies with available data were enrolled in the pooled analysis, which two papers with two cancer types presented two separate studies individually (Nakamura et al, 2002;Zhang et al, 2007) and a publication with five cancer types provided five independent studies (Cattaneo et al, 2006). Breast cancer (3 studies), gastric cancer (13 studies), colorectal cancer (7 studies), prostate cancer (7 studies) and the others were included in the pooled analysis.…”

Section: Characteristics Of Studiesmentioning

confidence: 99%

Roles of E-Cadherin (CDH1) Genetic Variations in Cancer Risk: a Meta-analysis

Deng¹,

He²,

Pan³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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E-Cadherin (CDH1) genetic variations may be involved in invasion and metastasis of various cancers by altering gene transcriptional activity of epithelial cells. However, published studies on the association of CDH1 gene polymorphisms and cancer risk remain contradictory, owing to differences in living habits and genetic backgrounds. To derive a more better and comprehensive conclusion, the present meta-analysis was performed including 57 eligible studies of the association between polymorphisms of CDH1 gene promoter -160 C>A, -347 G>GA and 3'-UTR +54 C>T and cancer risk. Results showed that these three polymorphisms of CDH1 were significantly associated with cancer risk. For -160 C>A polymorphism, -160A allele carriers (CA and CA+AA) had an increased risk of cancer compared with the homozygotes (CC), and the similar result was discovered for the -160A allele in the overall analyses. In the subgroup analyses, obvious elevated risk was found with -160A allele carriers (AA, CA, CA+AA and A allele) for prostate cancer, while a decreased colorectal cancer risk was shown with the AA genotype. For the -347 G>GA polymorphism, the GAGA genotype was associated with increased cancer risk in the overall analysis with homozygous and recessive models. In addition, results of subgroup analysis indicated that the elevated risks were observed in colorectal cancer and Asian descendants. For +54 C>T polymorphism, a decreased risk of cancer was found in heterozygous, dominant and allele models. Moreover, +54T allele carriers (CT, CT+TT genotype and T allele) showed a potential protective factor in gastric cancer and Asian descendants.

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“…We have sequenced exons and their flanking regions, including the promoter region (1.5 kb), to discover variants in 24 Korean unregulated individual DNA samples using the ABI PRISM 3700 DNA analyzer (Applied Biosystems, Foster City, CA Genotyping with fluorescence polarization detection Twenty polymorphisms of eight candidate genes that might be implicated in clearance of HBV infection and HCC occurrence were genotyped in this study, including -532C＞T, -217G＞A, -6A＞G, and +3889C ＞T in AGT -472insdelA, -285C＞A, +76003A＞C, +84762C＞G, and +86123C＞T in CDH1 (Humar et al, 2002;Nakamura et al, 2002;Wang et al, 2003); -162C＞G, +3552G＞A, and +5789T＞C in COX2 (Fritsche et al, 2001); -2518G＞A and -2076A＞T in MCP1 (Aguilar et al, 2001;Szalai et al, 2001;Kim et al, 2002); +69219G＞T and +91191T＞C in MDR1 (Jamroziak et al, 2004;Kajinami et al, 2004); -403G＞A and -28C＞G in RANTES (Liu et al, 1999); +36412T＞G in THBS2; and +30275G＞ C in THBS4 (Topol et al, 2001;Boekholdt et al, 2002). In addition, three polymorphisms in chemokine receptor 4 (CXCR4) and vimentin (VIM), identified in this study, were also genotyped (Table 2).…”

Section: Sequence Analysis Of the Human Cxcr4 And Vimmentioning

confidence: 99%

Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance

Park

Kim²,

Cheong³

et al. 2006

Exp Mol Med

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Hepatocellular carcinoma (HCC) is one of the most common malignant cancers closely associated with chronic infection by the hepatitis B virus (HBV) or the hepatitis C virus (HCV) throughout the world. In this study, the genetic associations of 20 known polymorphisms in eight candidate genes, including angiotensinogen (AGT), cadherin 1 (CDH1), cyclooxygenase 2 (COX2), monocyte chemotactic protein-1 (MCP1), multidrug resistance 1 (MDR1), chemokine ligand 5 (RANTES), thrombospondin 2 (THBS2), and thrombospondin 4 (THBS4), were analyzed in a large chronic hepatitis B cohort (n = 1,095) recruited from the Korean population. In addition, three polymorphisms in chemokine receptor 4 (CXCR4) and vimentin (VIM) identified in this study were also genotyped. Using logistic regression analysis controlling possible confounding factors, one common (freq.=0.367) promoter polymorphism of MCP1 (MCP1-2518G>A) among analyzed polymorphisms was significantly associated with clearance of HBV infection. The frequency of homozygotes for the MCP1-2518A allele (MCP1-2518A/A) among chronic hepatitis B virus (HBV) carrier patients was significantly higher than that among spontaneously recovered (SR) subjects (17.7% vs. 10.4%)(OR=1.78, P = 0.004). Our findings imply a plausible explanation for the contribution of host genetic determinants to the variable outcome of HBV infection, which might provide valuable information for future genetic study in this area.

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Characterization of DNA polymorphisms in the E-cadherin gene (CDH1) promoter region

Cited by 59 publications

References 18 publications

Genetic Polymorphisms of the E-Cadherin Promoter and Risk of Sporadic Gastric Carcinoma in Chinese Populations

Genetic Polymorphisms of the E-Cadherin Promoter and Risk of Sporadic Gastric Carcinoma in Chinese Populations

Roles of E-Cadherin (CDH1) Genetic Variations in Cancer Risk: a Meta-analysis

Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance

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