Mitra Saket1, Kioomars Saliminejad2, Koorosh Kamali2, Fatemeh Aghakhani Moghadam3, Nazanin Esmaeili Anvar3, Hamid Reza Khorram Khorshid4. 1. Department of Genetics, Islamic Azad University, Damghan Branch, Damghan, Iran. 2. Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran. 3. Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. 4. Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: hrkk1@uswr.ac.ir.
Abstract
OBJECTIVE: Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP2 (bone morphogenetic protein 2) and BMP4 (bone morphogenetic protein 4) polymorphisms with non-syndromic CL/P to clarify the potential role of these genes in the etiology of CL/P in Iranian population. DESIGN: The allelic and genotypic frequencies of BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms were determined in 107 unrelated Iranian subjects with non-syndromic CL/P and 186 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 BMP2 rs235768 AT genotype was significantly higher (P=0.009, OR=3, 95% CI=1.3-7.0) in the CL/P (59.8%) than the control group (33.3%). Similarly, the BMP4 rs17563 TC genotype were significantly higher (P=0.008, OR=3.7, 95% CI=1.4-9.9) in the CL/P (70.0%) than the control group (44.6%). CONCLUSION: The BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms could be considered as the risk factor for non-syndromic CL/P in Iranian population.
OBJECTIVE:Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP2 (bone morphogenetic protein 2) and BMP4 (bone morphogenetic protein 4) polymorphisms with non-syndromic CL/P to clarify the potential role of these genes in the etiology of CL/P in Iranian population. DESIGN: The allelic and genotypic frequencies of BMP2rs235768 A>T and BMP4rs17563 T>C polymorphisms were determined in 107 unrelated Iranian subjects with non-syndromic CL/P and 186 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 BMP2rs235768 AT genotype was significantly higher (P=0.009, OR=3, 95% CI=1.3-7.0) in the CL/P (59.8%) than the control group (33.3%). Similarly, the BMP4rs17563 TC genotype were significantly higher (P=0.008, OR=3.7, 95% CI=1.4-9.9) in the CL/P (70.0%) than the control group (44.6%). CONCLUSION: The BMP2rs235768 A>T and BMP4rs17563 T>C polymorphisms could be considered as the risk factor for non-syndromic CL/P in Iranian population.
Authors: Sarah W Curtis; Daniel Chang; Myoung Keun Lee; John R Shaffer; Karlijne Indencleef; Michael P Epstein; David J Cutler; Jeffrey C Murray; Eleanor Feingold; Terri H Beaty; Peter Claes; Seth M Weinberg; Mary L Marazita; Jenna C Carlson; Elizabeth J Leslie Journal: HGG Adv Date: 2021-04-08
Authors: Bernardo Olsson; Mateus José da Silva; Camila Lago; Robson Diego Calixto; Lucas Alexandre Ramazzotto; Nelson Luis Barbosa Rebellato; Christian Kirschneck; Francisco Wanderley Garcia Paula-Silva; Erika Calvano Küchler; Rafaela Scariot Journal: Ann Maxillofac Surg Date: 2022-02-01