VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese |
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| Institution: | 1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, China;2. Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, USA;1. State Key Laboratory of Oral Disease, West China hospital of Stomatology, Sichuan University, Chengdu, PR China;2. Department of Cleft Lip and Palate Surgery, West China College of Stomatology, Sichuan University, Chengdu, PR China;3. Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, Los Angeles, CA 90095, United States;4. Department of Stomatology, The third People’s hospital of Chengdu, Chengdu, PR China;1. The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China;2. The medical department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China;3. The Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin, China;1. Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia;2. Clinical Institute of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, Slovenia;3. Department of Maxillofacial and Oral Surgery, University Medical Centre Ljubljana, Ljubljana, Slovenia;1. Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy;2. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, 81745-319 Isfahan, Iran;3. Plastic Surgery Unit, Sant’Orsola Malpighi University Hospital, Via Massarenti, 9, 40138 Bologna, Italy;4. Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Via Luigi Borsari, 46, 44121 Ferrara, Italy;5. Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, 81745-319 Isfahan, Iran;1. Department of Biomedical Sciences, Sri Ramachandra University, Chennai, India;2. Department of Plastic Surgery, Sri Ramachandra University, Chennai, India;3. Sickle Cell Institute Chhattisgarh, Raipur, India |
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| Abstract: | ObjectiveNon-syndromic cleft lip with or without palate (NSCL/P) is one of the most common human birth defects, it results from multiple genetic and environmental risk factors. Recently, GWA studies identified associations between NSCL/P and two genetic risk loci, rs7078160 and rs4752028, at VAX1.DesignCurrently, we tried to investigate the roles of the two loci among 302 NSCL/P trios (129 non-syndromic cleft lip only (NSCLO) trios and 173 non-syndromic cleft lip and cleft palate (NSCLP) trios) from Western Han Chinese. The two SNPs were genotyped by SNPscan method; Hardy–Weinberg equilibrium test, allelic TDT and parent-of-origin effect were performed by PLINK software, and genotypic TDT and haplotype by FBAT software.ResultsAllelic TDT analysis revealed allele A at rs7078160 was over-transmitted among NSCL/P group (P = 0.0086, ORtransmission = 1.36, 95%CI: 1.08–1.72). Parent-of-origin effect analysis revealed a paternal special over-transmission of allele A at rs708260 in NSCL/P group (P = 0.0079). Haplotype AC of rs7078160-rs4752028 was significant over-transmitted in the NSCL/P group.ConclusionsOur study firstly confirmed that allele A at rs7078160 at VAX1 gene was a risk factor for NSCL/P in Western Han Chinese population. |
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| Keywords: | Single nucleotide polymorphisms Non-syndromic cleft lip with or without palate GWA study hits |
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