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ABSTRACT: Background
Cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha (TGFA) is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI (rs11466297) and RsaI (rs3732248), with CL/P was evaluated in an Iranian population.Methods
The frequencies of BamHI and RsaI variations were determined in 105 unrelated Iranian subjects with nonsyndromic CL/P and 218 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant.Results
The BamHI AC genotype was significantly higher (p=0.016) in the patients (12.4%) than the control group (5.0%). The BamHI C allele was significantly higher (p=0.001; OR=3.4, 95% CI: 1.6-7.4) in the cases (8.0%) compared with the control group (2.5%).Conclusion
Our study showed that there was an association between the TGFA BamHI variation and nonsyndromic CL/P in Iranian population.
SUBMITTER: Ebadifar A
PROVIDER: S-EPMC4629459 | biostudies-literature | 2015 Oct-Dec
REPOSITORIES: biostudies-literature
Ebadifar Asghar A Hamedi Roya R Khorram Khorshid Hamid Reza HR Saliminejad Kioomars K Kamali Koorosh K Aghakhani Moghadam Fatemeh F Esmaeili Anvar Nazanin N Ameli Nazilla N
Avicenna journal of medical biotechnology 20151001 4
<h4>Background</h4>Cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha (TGFA) is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI (rs11466297) and RsaI (rs3732248), with CL/P was evaluated in an Iranian population.<h4>Methods</h4>The frequen ...[more]