RFC1 and non-syndromic cleft lip with or without cleft palate: An association based study in Italy |
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| Institution: | 1. Department of Experimental, Diagnostic and Specialty Medicine, University di Bologna, Via Belmeloro 8, 40126 Bologna, Italy;2. Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Via Luigi Borsari 46, 44121 Ferrara, Italy;3. Head and Neck Department, University Hospital of Parma, Via Gramsci 14, 43100 Parma, Italy;1. Department of Plastic, Reconstructive and Maxillo-Facial Surgery, and Burn Unity Hospital de São João, Porto Medical School, Alameda Professor Hernâni Monteiro, 4202-451 Porto, Portugal;2. CMUP – Center for Mathematics of University of Porto, Faculdade de Ciências da Universidade do Porto, Rua do Campo Alegre, 687, 4169-007 Porto, Portugal;3. Spinal Neuronal Networks Group, IBMC – Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, 823, 4150-180 Porto, Portugal;1. Group of Research and Study on Laser in Dentistry (GEPLO), Department of Surgery and Integrated Clinic, Division of Periodontics, São Paulo State University, UNESP (“Univ. Estadual Paulista”), Araçatuba, SP, Brazil;2. Department of Periodontics, University Center of the Educational Foundation of Barretos (UNIFEB), Barretos, SP, Brazil;3. Department of Clinic and Surgery, Federal of University Alfenas, Alfenas, MG, Brazil;4. Department of Basic Science, São Paulo State University, UNESP (“Univ. Estadual Paulista”), Araçatuba, SP, Brazil;1. Department of Oral and Maxillofacial Surgery (Head: Prof. Dr. Sujata Mohanty, MDS), Maulana Azad Institute of Dental Sciences, New Delhi 110002, India;2. Department of Oral Pathology and Microbiology (Head: Prof. Dr. Adithya B Urs, MDS), Maulana Azad Institute of Dental Sciences, New Delhi 110002, India;1. Department of Plastic and Reconstructive Surgery, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Republic of Korea;2. Department of Plastic and Reconstructive Surgery, Keimyung University School of Medicine, Daegu, Republic of Korea;3. Department of Occupational and Environmental Medicine, Sungkyunkwan University Changwon Samsung Medical Center, Changwon, Republic of Korea;4. Department of Plastic and Reconstructive Surgery, Institute of Health Sciences, Gyeongsang National University Hospital, Gyeongsang National University School of Medicine, Jinju, Republic of Korea |
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| Abstract: | The molecular basis of orofacial development is largely unknown and needs to be unravelled. Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial malformation, with an incidence of about 1/700 live births, although variable according to ethnicity. Being a multifactorial disease, it arises as a result of an interplay between genetic and environmental factors. Several approaches have been developed to identify susceptibility genes. Genes belonging to the folate/homocysteine pathway are attracting increasing interest because folate supplementation before and during early pregnancy can reduce the risk of NSCL/P. We performed a family based association study in order to assess if a genetic variant of RFC1 could be involved in NSCL/P onset.We genotyped 404 unrelated probands and their relatives for three biallelic polymorphic variants (rs1051266, rs4818789 and rs3788205), that were selected because they produced conflicting results on previous investigations.Evidence of association was found between the investigated polymorphisms and NSCL/P in our sample of the Italian population, albeit with weak significance levels.Results from this investigation provided a support of previous studies suggesting a role of RFC1 in NSCL/P aetiology, reinforcing the concept that genetic predisposition to NSCL/P varies enormously within different ethnic groups. |
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| Keywords: | RFC1 Cleft lip with or without cleft palate Association study Polymorphism |
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