Dissecting the Complexity of Skeletal-Malocclusion-Associated Phenotypes: Mouse for the Rescue

Lone, Iqbal M. M. and Zohud, Osayd and Nashef, Aysar and Kirschneck, Christian and Proff, Peter and Watted, Nezar and Iraqi, Fuad A. A. (2023) Dissecting the Complexity of Skeletal-Malocclusion-Associated Phenotypes: Mouse for the Rescue. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (3): 2570. ISSN , 1422-0067

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Abstract

Skeletal deformities and malocclusions being heterogeneous traits, affect populations worldwide, resulting in compromised esthetics and function and reduced quality of life. Skeletal Class III prevalence is the least common of all angle malocclusion classes, with a frequency of 7.2%, while Class II prevalence is approximately 27% on average, varying in different countries and between ethnic groups. Orthodontic malocclusions and skeletal deformities have multiple etiologies, often affected and underlined by environmental, genetic and social aspects. Here, we have conducted a comprehensive search throughout the published data until the time of writing this review for already reported quantitative trait loci (QTL) and genes associated with the development of skeletal deformation-associated phenotypes in different mouse models. Our search has found 72 significant QTL associated with the size of the mandible, the character, shape, centroid size and facial shape in mouse models. We propose that using the collaborative cross (CC), a highly diverse mouse reference genetic population, may offer a novel venue for identifying genetic factors as a cause for skeletal deformations, which may help to better understand Class III malocclusion-associated phenotype development in mice, which can be subsequently translated to humans. We suggest that by performing a genome-wide association study (GWAS), an epigenetics-wide association study (EWAS), RNAseq analysis, integrating GWAS and expression quantitative trait loci (eQTL), micro and small RNA, and long noncoding RNA analysis in tissues associated with skeletal deformation and Class III malocclusion characterization/phenotypes, including mandibular basic bone, gum, and jaw, in the CC mouse population, we expect to better identify genetic factors and better understand the development of this disease.

Item Type: Article
Uncontrolled Keywords: QUANTITATIVE TRAIT LOCI; HORMONE RECEPTOR GENE; CLASS-III MALOCCLUSION; SNAIL FAMILY GENES; MANDIBULAR PROGNATHISM; MICE; CRANIOSYNOSTOSIS; GROWTH; LINKAGE; HEIGHT; skeletal-malocclusion; complexity; genetic analysis; gene mapping; GWAS; EWAS; gene expression
Subjects: 500 Science > 570 Life sciences
600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Kieferorthopädie
Depositing User: Dr. Gernot Deinzer
Date Deposited: 12 Mar 2024 14:54
Last Modified: 12 Mar 2024 14:54
URI: https://pred.uni-regensburg.de/id/eprint/59844

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