C Mehawej1, E Chouery1, R Elzein2,3, F Abdel-Sater4, N Jalkh5, F Ayoub6. 1. Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon. 2. Department of Pediatric Dentistry and Public Dental Health, Faculty of Dental Medicine, Lebanese University, Beirut, Lebanon. rolakarnib@yahoo.fr. 3. Medical Genetics Unit, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon. rolakarnib@yahoo.fr. 4. Laboratory of Cancer Biology and Cellular Immunology, Department of Biological Sciences, Faculty of Sciences, Lebanese University, Beirut, Lebanon. 5. Medical Genetics Unit, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon. 6. Department of Forensic Odontology, Human Identification and Anthropology, Faculty of Dental Medicine, Lebanese University, Beirut, Lebanon.
Abstract
OBJECTIVE: Molar-incisor hypomineralization (MIH) is a developmental qualitative enamel defect, causing a worldwide challenging dental problem. The etiology of this defect remains unclear. Here we identify by whole-exome sequencing (WES) new single-nucleotide polymorphisms (SNPs) in genes expressed during enamel mineralization and in those modulating prenatal, natal and postnatal risk factors among the Lebanese MIH children: immune system and xenobiotic detoxification. DESIGN: Dental examination for MIH was performed based on the MIH index for diagnostic criteria. Saliva samples were collected from 37 non-related, MIH-diagnosed subjects for DNA extraction. WES was performed on the Illumina HiSeq2000 platform. The χ2 test and Fisher's exact test were used to determine relationship between SNPs frequencies and MIH. OR and its 95% CI were used to report the strength of association. The significance threshold was set at 0.05. RESULTS: Among the Lebanese population, 37 SNPs presented a significant association with MIH in the following genes: AMTN, MMP-20, STIM1, STIM2, ORAI1, SLC34A2, SLC34A3, VDR, PVALB, HSP90B1, TRPM7, SLC24A4, CA6, SLC4A2, TNFRSF11A, IL10RB, ARNT, ESR1 and CYP1B1. CONCLUSION: This is the first WES study conducted in patients with MIH. Yet, interactions between polymorphisms in different gene categories are to be investigated for a better assessment of MIH susceptibility.
OBJECTIVE: Molar-incisor hypomineralization (MIH) is a developmental qualitative enamel defect, causing a worldwide challenging dental problem. The etiology of this defect remains unclear. Here we identify by whole-exome sequencing (WES) new single-nucleotide polymorphisms (SNPs) in genes expressed during enamel mineralization and in those modulating prenatal, natal and postnatal risk factors among the Lebanese MIH children: immune system and xenobiotic detoxification. DESIGN: Dental examination for MIH was performed based on the MIH index for diagnostic criteria. Saliva samples were collected from 37 non-related, MIH-diagnosed subjects for DNA extraction. WES was performed on the Illumina HiSeq2000 platform. The χ2 test and Fisher's exact test were used to determine relationship between SNPs frequencies and MIH. OR and its 95% CI were used to report the strength of association. The significance threshold was set at 0.05. RESULTS: Among the Lebanese population, 37 SNPs presented a significant association with MIH in the following genes: AMTN, MMP-20, STIM1, STIM2, ORAI1, SLC34A2, SLC34A3, VDR, PVALB, HSP90B1, TRPM7, SLC24A4, CA6, SLC4A2, TNFRSF11A, IL10RB, ARNT, ESR1 and CYP1B1. CONCLUSION: This is the first WES study conducted in patients with MIH. Yet, interactions between polymorphisms in different gene categories are to be investigated for a better assessment of MIH susceptibility.
Authors: Josephine Al-Alam; Ziad Fajloun; Asma Chbani; Maurice Millet Journal: J Environ Sci Health A Tox Hazard Subst Environ Eng Date: 2018-09-10 Impact factor: 2.269
Authors: E Bori; J Guo; R Rácz; B Burghardt; A Földes; B Kerémi; H Harada; M C Steward; P Den Besten; A L J J Bronckers; G Varga Journal: J Dent Res Date: 2016-01-20 Impact factor: 6.116