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

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 varia...

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Bibliographic Details
Published in:Familial cancer 2014-09, Vol.13 (3), p.415-421
Main Authors: Hozyasz, Kamil K., Mostowska, Adrianna, Wójcicki, Piotr, Lasota, Agnieszka, Offert, Barbara, Balcerek, Adam, Dunin-Wilczyńska, Izabella, Jagodziński, Paweł P.
Format: Article
Language:English
Subjects:
Adolescent
Biomedical and Life Sciences
Biomedicine
Brain - abnormalities
Cadherins - genetics
Cancer Research
Child
Child, Preschool
Cleft Lip - genetics
Cleft Palate - genetics
Epidemiology
Female
Genotype
Human Genetics
Humans
Infant
Male
Original
Original Article
Poland
Polymorphism, Single Nucleotide - genetics
Risk Factors
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Summary: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 (OR TT 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.
ISSN:1389-9600
1573-7292
DOI:10.1007/s10689-014-9727-2