Avicenna J Med Biotech

arij002

Avicenna Journal of Medical Biotechnology

2008-2835 2008-4625

Avicenna Research Institute

ajmb222

Association of Transforming Growth Factor Alpha Polymorphisms with Nonsyndromic Cleft Lip and Palate in Iranian Population

Ebadifar

Asghar

Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran

Hamedi

Roya

Khorram Khorshid

Hamid Reza

Molecular Immunology and Vaccine Research Laboratory, Pasteur Institute of Iran , Tehran, Iran

Saliminejad

Kioomars

Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran

Kamali

Koorosh

Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR , Tehran, Iran

Aghakhani Moghadam

Fatemeh

Esmaeili Anvar

Nazanin

Department of Bioinformatics, Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, IranSchool of Biological Sciences, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran

Ameli

Nazila

Department of Clinical Biochemistry, Pasteur Institute of Iran, Tehran, Iran

7 4 168 172 5 12 2014 25 5 2015

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.