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Erschienen in: Clinical Oral Investigations 4/2021

07.02.2021 | Review

Genetic factors contributing to skeletal class III malocclusion: a systematic review and meta-analysis

verfasst von: Alexandra Dehesa-Santos, Paula Iber-Diaz, Alejandro Iglesias-Linares

Erschienen in: Clinical Oral Investigations | Ausgabe 4/2021

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Abstract

Objectives

The present systematic review aims to report and critically assess the findings of the available scientific evidence from genetic association studies examining the genetic variants underlying skeletal class III malocclusion and its sub-phenotypes.

Material and methods

A pre-piloted protocol was registered and followed. The PubMed, Scopus, WOS, Cochrane Library, Gray Open literature, and CADTH databases were explored for genetic association studies following PICOS-based selection criteria. The research was reported in accordance with PRISMA statement and HuGE guidelines. The Q-genie tool was applied to assess the quality of genetic studies. Meta-analysis of genetic association studies was done by means of Meta-Genyo tool.

Results

A total of 8258 articles were retrieved, of which 22 were selected for in-depth analysis. Most of the studies did not differentiate between sub-phenotypes, and the cohorts were heterogeneous regarding ethnicity. Four to five principal components of class III malocclusion explained the phenotypic variation, and gene variants at MYO1H(rs10850110), BMP3(rs1390319), GHR (rs2973015,rs6184, rs2973015), FGF7(rs372127537), FGF10(rs593307), and SNAI3(rs4287555) (p < .05) explained most of the variation across the studies, associated to vertical, horizontal, or combined skeletal discrepancies. Meta-analysis results identified a statistically significant association between risk of class III malocclusion of A allele of the FBN3 rs7351083 [OR 2.13; 95% CI 1.1–4.1; p 0.02; recessive model].

Conclusion

Skeletal class III is a polygenic trait substantially modulated by ethnicity. A multicentric approach should be considered in future studies to increase sample sizes, applying multivariate analysis such as PCA and cluster analysis to characterize existing sub-phenotypes warranting a deeper analysis of genetic variants contributing to skeletal class III craniofacial disharmony.

Clinical relevance

Grasping the underlying mechanisms of this pathology is critical for a fuller understanding of its etiology, allowing generation of preventive strategies, new individualized therapeutic approaches and more accurate treatment planification strategies.
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Literatur
6.
Zurück zum Zitat Sidlaukas Antanas LK (2009) The prevalence of malocclusion among 7–15-year-old Lithuanian schoolchildren. Medicina (Kaunas) 45(2):147–152CrossRef Sidlaukas Antanas LK (2009) The prevalence of malocclusion among 7–15-year-old Lithuanian schoolchildren. Medicina (Kaunas) 45(2):147–152CrossRef
8.
Zurück zum Zitat Nowrin S, Alam M, Basri R (2015) Genetic effect and prevalence of class iii malocclusion in different population: An overview. Int J Pharm Bio Sci 6:910–918 Nowrin S, Alam M, Basri R (2015) Genetic effect and prevalence of class iii malocclusion in different population: An overview. Int J Pharm Bio Sci 6:910–918
11.
13.
Zurück zum Zitat Claes P, Roosenboom J, White JD, Swigut T, Sero D, Li J, Lee MK, Zaidi A, Mattern BC, Liebowitz C, Pearson L, Gonzalez T, Leslie EJ, Carlson JC, Orlova E, Suetens P, Vandermeulen D, Feingold E, Marazita ML, Shaffer JR, Wysocka J, Shriver MD, Weinberg SM (2018) Genome-wide mapping of global-to-local genetic effects on human facial shape. Nat Genet 50(3):414–423. https://doi.org/10.1038/s41588-018-0057-4CrossRefPubMedPubMedCentral Claes P, Roosenboom J, White JD, Swigut T, Sero D, Li J, Lee MK, Zaidi A, Mattern BC, Liebowitz C, Pearson L, Gonzalez T, Leslie EJ, Carlson JC, Orlova E, Suetens P, Vandermeulen D, Feingold E, Marazita ML, Shaffer JR, Wysocka J, Shriver MD, Weinberg SM (2018) Genome-wide mapping of global-to-local genetic effects on human facial shape. Nat Genet 50(3):414–423. https://​doi.​org/​10.​1038/​s41588-018-0057-4CrossRefPubMedPubMedCentral
14.
23.
Zurück zum Zitat Cunha A, Nelson-Filho P, Maranon-Vasquez GA, Ramos AGC, Dantas B, Sebastiani AM, Silverio F, Omori MA, Rodrigues AS, Teixeira EC, Levy SC, Araujo MC, Matsumoto MAN, Romano FL, Antunes LAA, Costa DJD, Scariot R, Antunes LS, Vieira AR, Kuchler EC (2019) Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns. Arch Oral Biol 97:85–90. https://doi.org/10.1016/j.archoralbio.2018.09.018CrossRefPubMed Cunha A, Nelson-Filho P, Maranon-Vasquez GA, Ramos AGC, Dantas B, Sebastiani AM, Silverio F, Omori MA, Rodrigues AS, Teixeira EC, Levy SC, Araujo MC, Matsumoto MAN, Romano FL, Antunes LAA, Costa DJD, Scariot R, Antunes LS, Vieira AR, Kuchler EC (2019) Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns. Arch Oral Biol 97:85–90. https://​doi.​org/​10.​1016/​j.​archoralbio.​2018.​09.​018CrossRefPubMed
26.
Zurück zum Zitat Little JHJe (2006) The HuGENetTM HuGE Review Handbook, version 1.0. Little JHJe (2006) The HuGENetTM HuGE Review Handbook, version 1.0.
33.
Zurück zum Zitat Marañón-Vásquez GA, Vieira AR, de Carvalho Ramos AG, Dantas B, Romano FL, Palma-Dibb RG, Arid J, Carpio K, Nelson-Filho P, de Rossi A, Scariot R, Levy SC, Antunes LAA, Antunes LS, Küchler EC (2020) GHR and IGF2R genes may contribute to normal variations in craniofacial dimensions: Insights from an admixed population. Am J Orthod Dentofac Orthop 158(5):722–730.e716. https://doi.org/10.1016/j.ajodo.2019.10.020CrossRef Marañón-Vásquez GA, Vieira AR, de Carvalho Ramos AG, Dantas B, Romano FL, Palma-Dibb RG, Arid J, Carpio K, Nelson-Filho P, de Rossi A, Scariot R, Levy SC, Antunes LAA, Antunes LS, Küchler EC (2020) GHR and IGF2R genes may contribute to normal variations in craniofacial dimensions: Insights from an admixed population. Am J Orthod Dentofac Orthop 158(5):722–730.e716. https://​doi.​org/​10.​1016/​j.​ajodo.​2019.​10.​020CrossRef
34.
Zurück zum Zitat Marañón-Vásquez GA, Dantas B, Kirschneck C, Arid J, Cunha A, Ramos AGC, Omori MA, Rodrigues AS, Teixeira EC, Levy SC, Schroeder A, Matsumoto MAN, Proff P, Antunes LAA, Vieira AR, Antunes LS, Küchler EC (2019) Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans. Arch Oral Biol 103:12–18. https://doi.org/10.1016/j.archoralbio.2019.05.008CrossRefPubMed Marañón-Vásquez GA, Dantas B, Kirschneck C, Arid J, Cunha A, Ramos AGC, Omori MA, Rodrigues AS, Teixeira EC, Levy SC, Schroeder A, Matsumoto MAN, Proff P, Antunes LAA, Vieira AR, Antunes LS, Küchler EC (2019) Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans. Arch Oral Biol 103:12–18. https://​doi.​org/​10.​1016/​j.​archoralbio.​2019.​05.​008CrossRefPubMed
40.
Zurück zum Zitat Tobón-Arroyave SI, Jiménez-Arbeláez GA, Alvarado-Gómez VA, Isaza-Guzmán DM, Flórez-Moreno GA, Pérez-Cano MI (2018) Association analysis between rs6184 and rs6180 polymorphisms of growth hormone receptor gene regarding skeletal-facial profile in a Colombian population. Eur J Orthod 40(4):378–386. https://doi.org/10.1093/ejo/cjx070CrossRefPubMed Tobón-Arroyave SI, Jiménez-Arbeláez GA, Alvarado-Gómez VA, Isaza-Guzmán DM, Flórez-Moreno GA, Pérez-Cano MI (2018) Association analysis between rs6184 and rs6180 polymorphisms of growth hormone receptor gene regarding skeletal-facial profile in a Colombian population. Eur J Orthod 40(4):378–386. https://​doi.​org/​10.​1093/​ejo/​cjx070CrossRefPubMed
43.
Zurück zum Zitat Ghergie M, Feştila D, Lupan I, Popescu O, Kelemen BS (2013) Testing the association between orthodonthic classes I, II, III and SNPs (rs731236, rs8004560, rs731236) in a Romanian clinical sample. Ann Romanian Soc Cell Biol 18:43–51 Ghergie M, Feştila D, Lupan I, Popescu O, Kelemen BS (2013) Testing the association between orthodonthic classes I, II, III and SNPs (rs731236, rs8004560, rs731236) in a Romanian clinical sample. Ann Romanian Soc Cell Biol 18:43–51
58.
64.
Zurück zum Zitat O'Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, Rajput B, Robbertse B, Smith-White B, Ako-Adjei D, Astashyn A, Badretdin A, Bao Y, Blinkova O, Brover V, Chetvernin V, Choi J, Cox E, Ermolaeva O, Farrell CM, Goldfarb T, Gupta T, Haft D, Hatcher E, Hlavina W, Joardar VS, Kodali VK, Li W, Maglott D, Masterson P, McGarvey KM, Murphy MR, O'Neill K, Pujar S, Rangwala SH, Rausch D, Riddick LD, Schoch C, Shkeda A, Storz SS, Sun H, Thibaud-Nissen F, Tolstoy I, Tully RE, Vatsan AR, Wallin C, Webb D, Wu W, Landrum MJ, Kimchi A, Tatusova T, DiCuccio M, Kitts P, Murphy TD, Pruitt KD (2016) Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44(D1):D733–D745. https://doi.org/10.1093/nar/gkv1189CrossRefPubMed O'Leary NA, Wright MW, Brister JR, Ciufo S, Haddad D, McVeigh R, Rajput B, Robbertse B, Smith-White B, Ako-Adjei D, Astashyn A, Badretdin A, Bao Y, Blinkova O, Brover V, Chetvernin V, Choi J, Cox E, Ermolaeva O, Farrell CM, Goldfarb T, Gupta T, Haft D, Hatcher E, Hlavina W, Joardar VS, Kodali VK, Li W, Maglott D, Masterson P, McGarvey KM, Murphy MR, O'Neill K, Pujar S, Rangwala SH, Rausch D, Riddick LD, Schoch C, Shkeda A, Storz SS, Sun H, Thibaud-Nissen F, Tolstoy I, Tully RE, Vatsan AR, Wallin C, Webb D, Wu W, Landrum MJ, Kimchi A, Tatusova T, DiCuccio M, Kitts P, Murphy TD, Pruitt KD (2016) Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res 44(D1):D733–D745. https://​doi.​org/​10.​1093/​nar/​gkv1189CrossRefPubMed
69.
Zurück zum Zitat Di Resta C, Ferrari M (2018) Next Generation Sequencing: From Research Area to Clinical Practice. EJIFCC 29(3):215–220PubMedPubMedCentral Di Resta C, Ferrari M (2018) Next Generation Sequencing: From Research Area to Clinical Practice. EJIFCC 29(3):215–220PubMedPubMedCentral
76.
Zurück zum Zitat Zhou W, Nielsen JB, Fritsche LG, Dey R, Gabrielsen ME, Wolford BN, LeFaive J, VandeHaar P, Gagliano SA, Gifford A, Bastarache LA, Wei WQ, Denny JC, Lin M, Hveem K, Kang HM, Abecasis GR, Willer CJ, Lee S (2018) Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. Nat Genet 50(9):1335–1341. https://doi.org/10.1038/s41588-018-0184-yCrossRefPubMedPubMedCentral Zhou W, Nielsen JB, Fritsche LG, Dey R, Gabrielsen ME, Wolford BN, LeFaive J, VandeHaar P, Gagliano SA, Gifford A, Bastarache LA, Wei WQ, Denny JC, Lin M, Hveem K, Kang HM, Abecasis GR, Willer CJ, Lee S (2018) Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. Nat Genet 50(9):1335–1341. https://​doi.​org/​10.​1038/​s41588-018-0184-yCrossRefPubMedPubMedCentral
Metadaten
Titel
Genetic factors contributing to skeletal class III malocclusion: a systematic review and meta-analysis
verfasst von
Alexandra Dehesa-Santos
Paula Iber-Diaz
Alejandro Iglesias-Linares
Publikationsdatum
07.02.2021
Verlag
Springer Berlin Heidelberg
Erschienen in
Clinical Oral Investigations / Ausgabe 4/2021
Print ISSN: 1432-6981
Elektronische ISSN: 1436-3771
DOI
https://doi.org/10.1007/s00784-020-03731-5

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