Identification by whole-exome sequencing of new single-nucleotide polymorphisms associated with molar-incisor hypomineralisation among the Lebanese population.

Autor: Elzein R; Department of Pediatric Dentistry and Public Dental Health, Faculty of Dental Medicine, Lebanese University, Beirut, Lebanon. rolakarnib@yahoo.fr.; Medical Genetics Unit, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon. rolakarnib@yahoo.fr., Abdel-Sater F; Laboratory of Cancer Biology and Cellular Immunology, Department of Biological Sciences, Faculty of Sciences, Lebanese University, Beirut, Lebanon., Mehawej C; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Jalkh N; Medical Genetics Unit, Faculty of Medicine, Saint-Joseph University, Beirut, Lebanon., Ayoub F; Department of Forensic Odontology, Human Identification and Anthropology, Faculty of Dental Medicine, Lebanese University, Beirut, Lebanon., Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Jazyk: angličtina
Zdroj: European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry [Eur Arch Paediatr Dent] 2022 Dec; Vol. 23 (6), pp. 919-928. Date of Electronic Publication: 2022 Aug 20.
DOI: 10.1007/s40368-022-00738-2
Abstrakt: 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 χ 2 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.
(© 2022. The Author(s), under exclusive licence to European Academy of Paediatric Dentistry.)
Databáze: MEDLINE
Externí odkaz: