Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate |
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Authors: | Kamil K. Hozyasz Adrianna Mostowska Piotr Wójcicki Agnieszka Lasota Barbara Offert Adam Balcerek Izabella Dunin-Wilczyńska Paweł P. Jagodziński |
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Affiliation: | 1. Department of Paediatrics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211, Warsaw, Poland 2. Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland 3. University Clinic of Medical Academy, Wroclaw, Poland 4. Department of Plastic Surgery, Specialist Medical Center, Polanica Zdroj, Poland 5. Department of Jaw Orthopaedics, Medical University of Lublin, Lublin, Poland 6. Department of Paediatric Surgery, Institute of Mother and Child, Warsaw, Poland
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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. |
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