An over-dominant effect associated with an SNP in a TP63 regulatory region is implicated in susceptibility to non-syndromic orofacial clefts.
| العنوان: | An over-dominant effect associated with an SNP in a TP63 regulatory region is implicated in susceptibility to non-syndromic orofacial clefts. |
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| المؤلفون: | João Mendes, Adriana Rocha Guimarães, Joana Martins Ribeiro, Bárbara Cecília Oliveiros, Luís Alcides Mesquita, Maria Helena Fernandes, Francisco José Fernandes do Vale, Henriqueta Coimbra Silva |
| سنة النشر: | 2023 |
| المجموعة: | Zenodo |
| مصطلحات موضوعية: | Non-syndromic orofacial clefts, overdominance, single nucleotide polymorphism, candidate gene, TP63 |
| الوصف: | Background: Non-syndromic orofacial clefts (NSOC) are complex phenotypes, involving multiple low penetrance genetic and environmental factors. Using a candidate gene approach, we aimed to analyze the role of four single nucleotide polymorphisms (SNPs) in the susceptibility to NSOC. Methods: A total of 254 individuals, 120 patients with NSOC, and 134 controls, all of Portuguese origin and non-consanguineous, were recruited. About 92% of patients had cleft lip with or without cleft palate (NSCL/P) and 8% had cleft palate (NSCP). Four SNPs in the MTHFR, IRF6, PAX7, and TP63 genes were studied, using a real-time approach with TaqMan probes. Statistical analysis was performed with IBM SPSS Statistics and included chi-squared, Cochran test for trend and binomial logistic regression. Bonferroni correction was applied. Statistical significance was set to 0.05. Results: All SNPs were in Hardy-Weinberg equilibrium. A significant statistical association was found for TP63 rs9332461 in an over-dominant model (p = 0.016; OR 1.897 (1.144 - 3.147)). Discussion and conclusion: Few SNPs have been so far identified in TP63 in population association studies. In our sample, a significant association was only highlighted for rs9332461, localized in upstream regulatory region. Mechanisms involved in heterozygous advantage may underlie the association. |
| نوع الوثيقة: | dataset |
| اللغة: | unknown |
| العلاقة: | https://zenodo.org/record/8154675Test; https://doi.org/10.5281/zenodo.8154675Test; oai:zenodo.org:8154675 |
| DOI: | 10.5281/zenodo.8154675 |
| الإتاحة: | https://doi.org/10.5281/zenodo.8154675Test https://doi.org/10.5281/zenodo.8154674Test https://zenodo.org/record/8154675Test |
| حقوق: | info:eu-repo/semantics/openAccess ; https://creativecommons.org/licenses/by/4.0/legalcodeTest |
| رقم الانضمام: | edsbas.F4239B0A |
| قاعدة البيانات: | BASE |
| DOI: | 10.5281/zenodo.8154675 |
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