Role of matrilin-1 (MATN1) polymorphism in class III skeletal malocclusion with mandibular prognathism in Deutero-Malay race: a case-control study

Abstract

Background Several studies have identified different genes that control the final dimension and structure of the mandible. Prognathism of the mandible is thought to correlate with these genes; however, no specific gene has been assigned as a risk factor due to various genome-wide scan results in different races. Previous studies that involved the Han ethnic group in China and Korea suggested matrilin-1 (MATN1) polymorphism as the contributor for mandibular prognathism. To date, no study has been conducted to understand the role of MATN1 in Deutero-Malay population. This study aimed to detect MATN1 gene polymorphism in the promoter and exon 5 regions, which is a proposed risk factor in class III skeletal malocclusion with mandibular prognathism in Deutero-Malay population. This was a case-control study with purposive sampling method that involved 47 class III skeletal malocclusion subjects with mandibular prognathism (case group) and 47 class I skeletal relation subjects (control group) performed in the Molecular Genetics Laboratory of Faculty of Medicine, Universitas Padjadjaran, Indonesia. DNA isolated from buccal mucous epithelia and MATN1 gene was amplified using the polymerase chain reaction (PCR) and sequencing technique. Data were then analyzed statistically to observe the frequency of allele/genotype MATN1 in class III skeletal malocclusion and mandibular prognathism patients in comparison with the normal mandibular as well as to identify the risk factor of mandibular prognathism. Result The frequency of the 354 T > C(rs20566) CC genotype gene polymorphism in the case group was significantly higher than in the control group. The odd ratio (OR) value of the case group was also higher than in the control group (χ2 = 4.89; p = 0.027; OR = 6.27). Conclusions Our results show that the polymorphism of 354 T > C in the exon 5 region of the CC genotype MATN1 gene is a risk factor for class III skeletal malocclusion with mandible prognathism in Deutero-Malay population.

Skeletal Class III phenotype: Link between animal models and human genetics: A scoping review

“…This result agreed with the preventive effect described in a human study on the presence of the AA genotype of rs20566 (Jang et al, 2010), and was in line with the association of rs1149042 with mandibular retrognathism (Balkhande et al, 2018). In contrast, other human studies have shown an increased risk of mandibular prognathism in the presence of rs1065755 and an association of MATN1 with SCIII malocclusion in Korean (Jang et al, 2010), Indian (Kulkarni et al, 2021), and Deutero‐Malay (Laviana et al, 2021) populations. Similar results were observed for MYO1H (GOC:100/100; WGA:60.8/100) coding for unconventional myosin‐Ih APD:1.05), in which an increased risk of presenting with MP in the presence of rs3825393, a non‐synonymous common variant, C > T, p. Pro1001Leu, was reported by Sun et al in a knockdown zebrafish model (Sun et al, 2018).…”

Genes and Pathways Associated with Skeletal Sagittal Malocclusions: A Systematic Review

“…One possibility is that for each of these four genes, different SNPs may lead to a more active isoform or higher expression in one class malocclusion and a more inert isoform or less expression in the other. However, available GWAS studies [ 30 , 34 , 35 , 38 , 40 , 43 , 46 , 47 , 48 , 53 , 54 ] revealed that certain SNPs, including rs2249492 ( COL1A1 ), rs11200014 ( FGFR2 ), rs2162540 ( FGFR2 ), rs10850110 ( MYO1H ), and rs3825393 ( MYO1H ), were shared by skeletal class II and class III malocclusions ( Table 7 ), which cannot be explained by the hypothesis mentioned above. Surprisingly, most of the reported skeletal class II or class III malocclusion-associated SNPs are located in the introns of these four genes [ 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 ], indicating the importance of the noncoding regions of these DNA fragments in craniofacial development and skeletal malocclusion.…”

MATN1 gene variant (rs1065755) and malocclusion risk: Evidence from Romanian population analysis

“…In a different study (Kulkarni et al, 2020), albeit somewhat constrained by a small sample size, rs20566 and frameshift variants at rs1065755 exhibited notably higher frequencies in 35 skeletal Class III patients with mandibular prognathism compared to 30 control individuals from an Indian population. By studying the MATN1 gene's association with mandibular prognathism in the Deutero-Malay race in Indonesian subjects, Laviana et al (2021) indicate that polymorphism of exon 5 regions of the MATN1 gene, 354 T>C (rs20566) CC genotype, is the risk factor of such craniofacial disorder. In this case no CC genotype was identified in the control group.…”

“…Given the correlation of multiple single nucleotide polymorphisms (SNPs) with malocclusion, this paper focuses on the rs1065755 polymorphism (8572 C>T), which has been associated with an elevated risk of mandibular prognathism in Korean population (Jang et al, 2010). Other studies address the potential genetic predisposition linked to the MATN1 gene in various dental conditions across populations primarily from India (Rathod et al, 2023, Balkhande et al, 2018, Korea (Yamaguchi et al, 2005), and Indonesia (Laviana et al, 2021), leaving the European space a less explored territory.…”