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CC BY 4.0 · Eur J Dent 2023; 17(01): 183-190
DOI: 10.1055/s-0042-1744371
Original Article

COL1A1 and FGFR2 Single-Nucleotide Polymorphisms Found in Class II and Class III Skeletal Malocclusions in Javanese Population

I Gusti Aju Wahju Ardani
1   Department of Orthodontics, Faculty of Dental Medicine, Universitas Airlangga, Surabaya, Indonesia
,
Melisa Budipramana
2   Department of Orthodontics, Faculty of Dental Medicine, Universitas Lambung Mangkurat, Banjarmasin, Indonesia
,
Erlina Rachmawati
1   Department of Orthodontics, Faculty of Dental Medicine, Universitas Airlangga, Surabaya, Indonesia
,
Alexander Patera Nugraha
1   Department of Orthodontics, Faculty of Dental Medicine, Universitas Airlangga, Surabaya, Indonesia
,
I Kade Karisma Gita Ardana
3   Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Negeri Malang, Malang, Indonesia
,
Theresia Indah Budhy
4   Department of Oral and Maxillofacial Pathology, Faculty of Dental Medicine, Universitas Airlangga, Surabaya, Indonesia
,
Rozita Hassan
5   Orthodontic Unit, School of Dental Sciences, Universiti Sains Malaysia, Kelantan, Malaysia
,
Dwi Listyorini 
6   Department of Biotechnology, Faculty of Mathematics and Natural Sciences, Universitas Negeri Malang, Malang, Indonesia
,
Riyanarto Sarno
7   Department of Informatics, Institute Technology of Sepuluh Nopember, Surabaya, Indonesia
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Abstract

Objective The aim of this article is to analyze and compare the presence of single-nucleotide polymorphisms (SNPs) of COL1A1 and FGFR2 in class II and class III Javanese populations.

Materials and Methods Cephalometric radiographs from total 63 patients of class II and III were analyzed. SNP analysis was performed based on both COL1A1 and FGFR2 sequences amplified from total DNA of patients' fresh blood. Principal component analysis was done to calculate the data and find the correlation of the cephalometric indicators influenced by each mutation. t-test and Mann–Whitney analysis were performed to check the significance of differences occurred in each studied parameter (p < 0.05).

Result There were three COL1A1 SNPs found in class II and only two in class III, while three FGFR2 SNPs found in both classes. Class II phenotype seemed to be strongly influenced by Y-axis and mandibular plane angle, while class III by lower gonial angle and mandibular plane angle.

Conclusion Based on this study, we suggest that rs2249492 of COL1A1 and rs2981582 of FGFR2 play important roles in class III, while rs2277632 of COL1A1 and rs2981582 of FGFR2 play important role in class II skeletal malocclusion in Javanese population.

Keywords

COL1A1 - FGFR2 - single-nucleotide polymorphisms - skeletal malocclusion - medicine


Publication History

Article published online:
07 June 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Doraczynska-Kowalik A, Nelke KH, Pawlak W, Sasiadek MM, Gerber H. Genetic factors involved in mandibular prognathism. J Craniofac Surg 2017; 28 (05) e422-e431
    CrossrefPubMedGoogle Scholar
  • 2 Proffit WR, Jackson TH, Turvey TA. Changes in the pattern of patients receiving surgical-orthodontic treatment. Am J Orthod Dentofacial Orthop 2013; 143 (06) 793-798
    CrossrefPubMedGoogle Scholar
  • 3 Moreno Uribe LM, Miller SF. Genetics of the dentofacial variation in human malocclusion. Orthod Craniofac Res 2015; 18 (Suppl. 01) 91-99
    CrossrefPubMedGoogle Scholar
  • 4 Alhammadi MS, Halboub E, Fayed MS, Labib A, El-Saaidi C. Global distribution of malocclusion traits: a systematic review. Dental Press J Orthod 2018; 23 (06) 40.e1-40.e10
    Google Scholar
  • 5 Liu H, Wu C, Lin J, Shao J, Chen Q, Luo E. Genetic etiology in nonsyndromic mandibular prognathism. J Craniofac Surg 2017; 28 (01) 161-169
    CrossrefPubMedGoogle Scholar
  • 6 Ardani IGAW, Dinata FC, Triwardhani A. The importance of the occlusal plane in predicting better facial soft tissue in class II malocclusion in ethnic Javanese. Eur J Dent 2020; 14 (03) 429-434
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Deng N, Zhou H, Fan H, Yuan Y. Single nucleotide polymorphisms and cancer susceptibility. Oncotarget 2017; 8 (66) 110635-110649
    CrossrefPubMedGoogle Scholar
  • 8 da Fontoura CSG, Miller SF, Wehby GL. et al. Candidate gene analyses of skeletal variation in malocclusion. J Dent Res 2015; 94 (07) 913-920
    CrossrefPubMedGoogle Scholar
  • 9 Cruz CV, Mattos CT, Maia JC. et al. Genetic polymorphisms underlying the skeletal Class III phenotype. Am J Orthod Dentofacial Orthop 2017; 151 (04) 700-707
    CrossrefPubMedGoogle Scholar
  • 10 Xiong X, Li S, Cai Y, Chen F. Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism. Medicine (Baltimore) 2017; 96 (25) e7240
    CrossrefPubMedGoogle Scholar
  • 11 Graber T, Vanarsdall R, Vig K. Orthodontics: Current Principles and Techniques. 4th edition. St. Louis: Mosby; 2015. (10): 350
    Google Scholar
  • 12 Mossey PA. The heritability of malocclusion: Part 1–genetics, principles and terminology. Br J Orthod 1999; 26 (02) 103-113
    CrossrefPubMedGoogle Scholar
  • 13 Ellsworth DL, Manolio TA. The emerging importance of genetics in epidemiologic research. I. Basic concepts in human genetics and laboratory technology. Ann Epidemiol 1999; 9 (01) 1-16
    CrossrefPubMedGoogle Scholar
  • 14 Nie X, Luukko K, Kettunen P. FGF signalling in craniofacial development and developmental disorders. Oral Dis 2006; 12 (02) 102-111
    CrossrefPubMedGoogle Scholar
  • 15 Kettunen P, Karavanova I, Thesleff I. Responsiveness of developing dental tissues to fibroblast growth factors: expression of splicing alternatives of FGFR1, -2, -3, and of FGFR4; and stimulation of cell proliferation by FGF-2, -4, -8, and -9. Dev Genet 1998; 22 (04) 374-385
    CrossrefPubMedGoogle Scholar
  • 16 Mina M. Regulation of mandibular growth and morphogenesis. Crit Rev Oral Biol Med 2001; 12 (04) 276-300
    CrossrefPubMedGoogle Scholar
  • 17 Gajko-Galicka A. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol 2002; 49 (02) 433-441
    CrossrefPubMedGoogle Scholar
  • 18 Ardani IGAW, Pratiknjo IS, Djaharu'ddin I. Correlation between dentoalveolar heights and vertical skeletal patterns in Class I malocclusion in ethnic Javanese. Eur J Dent 2021; 15 (02) 210-215
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Sengupta P, Xu Y, Wang L, Widom R, Smith BD. Collagen alpha1(I) gene (COL1A1) is repressed by RFX family. J Biol Chem 2005; 280 (22) 21004-21014
    CrossrefPubMedGoogle Scholar
  • 20 Stover DA, Verrelli BC. Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases. Mol Biol Evol 2011; 28 (01) 533-542
    CrossrefPubMedGoogle Scholar
  • 21 Kim TH, Bae CH, Jang EH. et al. Col1a1-cre mediated activation of β-catenin leads to aberrant dento-alveolar complex formation. Anat Cell Biol 2012; 45 (03) 193-202
    CrossrefPubMedGoogle Scholar
  • 22 Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002; 3 (05) 391-397
    CrossrefPubMedGoogle Scholar
  • 23 Ardani IGAW, Aulanni'am. Diyatri I. Single nucleotide polymorphisms (SNPs) of COL1A1 and COL11A1 in Class II skeletal malocclusion of ethnic Javanese patient. Clin Cosmet Investig Dent 2020; 12: 173-179
    CrossrefPubMedGoogle Scholar
  • 24 Li L, Sun Z, Chen J, Zhang Y, Shi H, Zhu L. Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse. Menopause 2020; 27 (02) 223-229
    CrossrefPubMedGoogle Scholar
  • 25 Zhang Y, Zeng X, Liu P. et al. Association between FGFR2 (rs2981582, rs2420946 and rs2981578) polymorphism and breast cancer susceptibility: a meta-analysis. Oncotarget 2017; 8 (02) 3454-3470
    CrossrefPubMedGoogle Scholar
  • 26 Zhu B, Wang J, Qin L. et al. FGFR2 gene polymorphism rs2981582 is associated with non-functioning pituitary adenomas in Chinese Han population: a case-control study. Biosci Rep 2018; 38 (06) 1-6
    Google Scholar
  • 27 Meyer KB, Maia AT, O'Reilly M. et al. Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol 2008; 6 (05) e108
    CrossrefPubMedGoogle Scholar
  • 28 Cox DG, Curtit E, Romieu G. et al. GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients. Oncotarget 2016; 7 (47) 77358-77364
    CrossrefPubMedGoogle Scholar
  • 29 O'Brien KM, Cole SR, Poole C. et al. Replication of breast cancer susceptibility loci in Whites and African Americans using a Bayesian approach. Am J Epidemiol 2014; 179 (03) 382-394
    CrossrefPubMedGoogle Scholar
  • 30 Jiang Q, Mei L, Zou Y. et al. Genetic polymorphisms in FGFR2 underlie skeletal malocclusion. J Dent Res 2019; 98 (12) 1340-1347
    CrossrefPubMedGoogle Scholar
  • 31 Sitasari PI, Narmada IB, Hamid T, Triwardhani A, Nugraha AP, Rahmawati D. East Java green tea methanolic extract can enhance RUNX2 and Osterix expression during orthodontic tooth movement in vivo. J Pharm Pharmacog Res 2020; 8 (04) 290-298
    Google Scholar
  • 32 Nugraha AP, Narmada IB, Ernawati DS. et al. Osteogenic potential of gingival stromal progenitor cells cultured in platelet rich fibrin is predicted by core-binding factor subunit-α1/Sox9 expression ratio ( in vitro). F1000 Res 2018; 7: 1134
    CrossrefPubMedGoogle Scholar