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Familial Cancer
Published in: Familial Cancer 3/2014

Open Access 01-09-2014 | Original Article

Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate

Authors: Kamil K. Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Barbara Offert, Adam Balcerek, Izabella Dunin-Wilczyńska, Paweł P. Jagodziński

Published in: Familial Cancer | Issue 3/2014

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Abstract

The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Six single nucleotide polymorphisms (SNPs) of the CDH1 gene (rs16260, rs9929218, rs7186053, rs4783573, rs16958383, and rs1801552) were genotyped using the TaqMan SNP genotyping assays in 250 patients with NSCL/P and 540 controls from the Polish population. Comparison between patient and control groups showed that the CDH1 rs1801552 variant, under the assumption of recessive model, was associated with a two-fold decrease in the risk of NSCL/P (ORTT vs CT + CC = 0.481, 95 % CI 0.281–0.824, p = 0.007). This association remained statistically significant even after the multiple testing correction. No significant associations with NSCL/P risk were found for the other five tested SNPs. We found a strong association between the cancer predisposing gene CDH1 and the risk of NSCL/P in the Polish population. This result, together with previous observations of co-occurrence of orofacial clefts and a variety of cancer types, suggests the need for replication studies testing rs1801552 in NSCL/P cohorts with a known cancer history.
Literature
1.
2.
Sperber GH, Sperber SM (2013) Embryogenetics of cleft lip and palate. In: Berkowitz S (ed) Cleft lip and palate. Diagnosis and management. Springer, Heidelberg, pp 3–33CrossRef
3.
Bőhmer AC, Mangold E, Tessmann P, Mossey PA, Steegers-Theunissen RP, Lindemans J, Bouwman-Both M, Rubini M, Franceschelli P, Aiello V, Peterlin B, Molloy AM, Nőthen MM, Knapp M, Ludwig KU (2013) Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample. Am J Med Genet 161A:2545–2549PubMed
4.
Taioli E, Ragin C, Robertson L, Linkov F, Thurman NE, Vieira AR (2010) Cleft lip and palate in family members of cancer survivors. Cancer Invest 28:958–962PubMedCrossRef
5.
Vieira AR, Khaliq S, Lace B (2012) Risk of cancer in relatives of children born with isolated cleft lip and palate. Am J Med Genet 158A:1503–1504PubMedCrossRef
6.
Popoff DA, Coelho MP, Martelli DR, Saini R, Coletta RD, Martelli-Junior H (2013) Non-syndromic oral clefts and risk of cancer: a systematic review. Dentistry 3000(1):a002
7.
Gonzales CA, Sala N, Rokkas T (2013) Gastric cancer: epidemiologic aspects. Helicobacter 18(Suppl 1):34–38CrossRef
8.
Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Gulford P, Blair V, Chung DC, Norton J, Ragunath K, van Krieken JH, Dwerryhouse S (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436–444PubMedPubMedCentralCrossRef
9.
Corso D, Marrelli D, Roviello F (2011) Familial gastric cancer: update for practice management. Fam Cancer 10:391–396PubMedCrossRef
10.
Stemmler MP, Bedzhov I (2010) A Cdh1 HA knock-in allele rescues the Cdh1 −/−phenotype but shows essential Cdh1 function during placentation. Dev Dyn 239:2330–2344PubMedCrossRef
11.
Chen B, Zhou Y, Yang P, Liu L, Qin X-P, Wu X-T (2011) CDH1—160C>A polymorphism is an ethnicity-dependent risk factor for gastric cancer. Cytokine 55:266–273PubMedCrossRef
12.
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadion C et al (2006) Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 43:138–142PubMedPubMedCentralCrossRef
13.
Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simoes-Correia J, van Krieken JH, Ligtenberg MJ, Figueiredo J, van Riel E, Sijmons RH, Plukker JT, van Hillegersberg R, Dekker E, Oliveira C, Cats A, Hoogerbrugge N (2012) CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer 131:367–376PubMedCrossRef
14.
Benusiglio PR, Caron O, Consolino E, Duvillard P, Coulet F, Blayau M, Malka D (2013) Cleft lip, cleft palate, hereditary diffuse cancer and germline mutations in CDH1. Int J Cancer 132:2470PubMedCrossRef
15.
Li LC, Chui RM, Sasaki M, Nakajima K, Perinchery G, Au HC et al (2000) A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities. Cancer Res 60:873–876PubMed
16.
Cattaneo F, Venesio T, Molatore S, Russo A, Fiocca R, Frattini M et al (2006) Functional analysis and case-control study of −160C/A polymorphism in E-cadherin gene promoter association with cancer risk. Anticancer Res 26:4627–4632PubMed
17.
Wang Y, Yang H, Li L, Wang H, Zhang C, Xia X (2012) E-cadherin (CDH1) gene promoter polymorphism and risk of colorectal cancer. Int J Colorectal Dis 27:151–158PubMedCrossRef
18.
Zhan Z, Wu J, Zhang J, Yang P, Tong S, Zhang C, Li J, Yang X, Dong W (2012) CDH1 gene polymorphisms, plasma CDH1 levels and risk of gastric cancer in a Chinese population. Mol Biol Rep 39:8107–8113PubMedCrossRef
19.
Song Y, Zhang S (2011) Association of CDH1 promoter polymorphism and the risk of non-syndromic orofacial clefts in a Chinese Han population. Arch Oral Biol 56:68–72PubMedCrossRef
20.
Rafighdoost H, Hashemi M, Narouei A, Eskanadri-Nasab E, Dashti-Khadivaki G, Taheri M (2013) Association between CDH1 and MSX1 gene polymorphisms and the risk of nonsyndromic cleft lip and/or palate in a Southeast Iranian population. Cleft Palate Craniofac J 50:e98–e104PubMedCrossRef
21.
Vogelaar IP, Figueiredo J, van Rooij IA, Simoes-Correia J, van der Post RS, Melo S, Seruca R, Carels CE, Ligtenberg MJ, Hoogerbrugge N (2013) Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. Hum Mol Genet 22:919–926PubMedCrossRef
22.
23.
Jacobs G, Hellmig S, Huse K, Titz A, Franke A, Kwiatkowski R, Ott S, Kosmahl M, Fischbach W, Lucius R, Klapper W, Folsch UR, Hampe J, Schreiber S, Rosenstiel S (2011) Polymorphisms in the 3′-untranslated region of the CDH1 gene are a risk factor for primary gastric diffuse large B-cell lymphoma. Haematologica 96:987–995PubMedPubMedCentralCrossRef
24.
Pinheiro H, Bordeira-Carrico R, Seixas S, Carvalho J, Senz J, Oliveira P, Inacio P, Gusmao L, Rocha J, Huntsman D, Seruca R, Oliveira C (2010) Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Hum Mol Genet 19:943–952PubMedPubMedCentralCrossRef
25.
Beeghly-Fadiel A, Lu W, Gao Y-T, Long J, Deming SL, Cai Q, Zheng Y, Shu X, Zheng W (2010) E-cadherin polymorphism and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat 121:445–452PubMedPubMedCentralCrossRef
26.
Ierodiakonou D, Postma DS, Koppelman GH, Boezen HM, Gerritsen J, ten Hacken N, Timens W, Vonk JM (2011) E-cadherin gene polymorphisms in asthma patients using inhaled corticosteroids. Eur Respir J 38:1044–1052PubMedCrossRef
27.
Letra A, Menezes R, Granjeiro JM, Vieira AR (2009) AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Res A 85:169–173CrossRef
28.
Lubbe SJ, Di Bernardo MC, Broderick P, Chandler I, Houlston RS (2011) Comprehensive evaluation of the impact of 14 genetic variants on colorectal cancer phenotype and risk. Am J Epidemiol 175:1–10PubMedCrossRef
29.
Abuli A, Lozano JJ, Rodriguez-Soler M, Jover R, Bessa X, Munoz J, Esteban-Jurado C et al. (2013) Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis Advance Access published May 27, 2013
30.
Fierro-Gonzalez JC, White MD, Silva JC, Plachta N (2013) Cadherin-dependent filopodia control preimplantation embryo compaction. Nat Cell Biol 15:1424–1433PubMedCrossRef
31.
Gortardi CJ, Wong E, Gumbiner BM (2001) E-cadherin suppresses cellular transformation by inhibiting beta-catenin signaling in an adhesion-independent manner. J Cell Biol 153:1049–1060CrossRef
32.
Mostowska A, Hozyasz KK, Biedziak B, Wojcicki P, Lianeri M, Jagodzinski PP (2012) Genotype and haplotype analysis of WNT genes in non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 120:1–8PubMedCrossRef
33.
Naoe H, Chiyoda T, Ishizawa J, Masuda K, Saya H, Kuninaka S (2013) The APC/C activator Cdh1 regulates the G2/M transition during differentiation of placental trophoblast stem cells. Biochem Biophys Res Commun 430:757–762PubMedCrossRef
Metadata
Title
Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate
Authors
Kamil K. Hozyasz
Adrianna Mostowska
Piotr Wójcicki
Agnieszka Lasota
Barbara Offert
Adam Balcerek
Izabella Dunin-Wilczyńska
Paweł P. Jagodziński
Publication date
01-09-2014
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2014
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-014-9727-2

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