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. 2023 Feb;17(1):183-190.
doi: 10.1055/s-0042-1744371. Epub 2022 Jun 7.

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

I Gusti Aju Wahju Ardani  1 , Melisa Budipramana  2 , Erlina Rachmawati  1 , Alexander Patera Nugraha  1 , I Kade Karisma Gita Ardana  3 , Theresia Indah Budhy  4 , Rozita Hassan  5 , Dwi Listyorini  6 , Riyanarto Sarno  7
Affiliations

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

I Gusti Aju Wahju Ardani et al. Eur J Dent. 2023 Feb.

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.

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Conflict of interest statement

None declared.

Figures

Fig. 1
Fig. 1
Cephalometric tracing of ( A ) class II and ( B ) class III skeletal malocclusion.
Fig. 2
Fig. 2
Mal II/COL1A1 heterozygote 286C/G in sample no. 20 ( A ). Sample no 19 ( B ) exhibits a homozygosity.
Fig. 3
Fig. 3
T/C153 heterozygosity and T153C substitution in Mal II/COL1A1. ( A ) Sample no. 19; ( B ) sample no. 24; (C) sample no. 25.
Fig. 4
Fig. 4
Intron G/A heterozygosity and G/A substitution in Mal III/COL1A1. ( A ) G/A heterozygote sample; ( B ) normal sample; ( C ) G/A substitutive mutation. Examples from samples no. 31, 41, and 49, respectively.
Fig. 5
Fig. 5
Protein structure changing due to the mutation. ( A ) Normal control; ( B ) mutant (sample no. 20); ( C ) normal-mutant alignment; and ( D ) whole sequence alignment showing the position of the mutation (white circle). Normal sequence in blue, mutant sequence drawn in yellow.
See this image and copyright information in PMC

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