Association between BMP4 gene polymorphisms and cleft lip with or without cleft palate in a population from South China |
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| Affiliation: | 1. Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, China;2. Central Lab, Guangzhou Women and Children’s Medical Center Guangzhou Medical University, China;1. Department of Biology, Faculty of Science, Mashhad Branch, Islamic Azad University, Mashhad, Iran;2. School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran;3. Department of Anatomy, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran;4. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran;1. College of Stomatology, Chongqing Medical University, Chongqing, China;2. Chongqing Key Laboratory for Oral Diseases and Biomedical Sciences, College of Stomatology, Chongqing Medical University, Chongqing, China;3. Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, College of Stomatology, Chongqing Medical University, Chongqing, China;1. Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, People''s Republic of China;2. Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, People''s Republic of China |
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| Abstract: | ObjectivePrevious studies have suggested an association between several polymorphisms of the BMP4 gene and susceptibility to non-syndromic cleft lip with or without cleft palate (NSCL/P) in various populations. However, this association may vary according to ethnic group and the form of NSCL/P. This study analyzed the association between the BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 with the risk of cleft lip only (CLO), cleft palate only (CPO), and cleft lip with palate (CLP) in a population from South China.MethodsThis case-control study included 165 patients with NSCL/P (53 patients with CPO, 52 with CLO, and 60 with CLP) and 52 healthy volunteers. Peripheral blood samples were collected from all subjects to genotype the rs762642, rs17563, and rs10130587 polymorphisms by direct sequencing. Genotype and allelic frequencies of these polymorphisms were compared between healthy volunteers and patients with various forms of NSCL/P.ResultsThe genotype and allelic frequencies of rs762642 differed significantly between subgroups (CPO and CLP) and normal controls, whereas a significant difference was observed only in the CLO subgroup for the rs17563 polymorphism and in the CLO and CLP groups for the rs10130587 polymorphism. In addition, we identified a novel association of a BMP4 gene polymorphism, which was in linkage disequilibrium with the rs10130587 polymorphism, with CLO and CLP.ConclusionThe BMP4 gene polymorphisms rs762642, rs17563, and rs10130587 exhibit different associations with different forms of NSCL/P, suggesting that different forms of NSCL/P may have different etiologies. |
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| Keywords: | BMP4 polymorphism non-syndromic cleft lip with or without cleft palate SNP |
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