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All Journal Dental Journal (Majalah Kedokteran Gigi) Global Medical and Health Communication
Saskia Lenggogeni Nasroen
Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Universitas Jenderal Achmad Yani, Cimahi
Dentistry

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The MYH9 Gene and MYH9 rs12107 Gene Polymorphism are associated with MYH9 mRNA Underexpression in Non-syndromic Cleft Lip and Palate among Indonesian Deutero-Malay Subrace Saskia Lenggogeni Nasroen; Jeffrey Jeffrey; Dewi Lidya Ichwana Nasution; Kayla Keishafa Siti Hallina; Annisa Namira; Unik Imiati Nurfadhillah
Global Medical & Health Communication (GMHC) Vol. 14 No. 1 (2026): Accredited Sinta 2
Publisher : UPT Publikasi Ilmiah Universitas Islam Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.29313/gmhc.v14i1.8575

Abstract

Genetic factors play a significant role in non-syndromic cleft lip and palate (NS-CLP) as a common congenital orofacial malformation. The myosin heavy chain 9 (MYH9) gene is one of the candidate genes associated with  NS-CLP. This study aimed to investigate changes in MYH9 gene mRNA expression in the oral epithelium of NS-CLP, to analyze the MYH9 rs12107 polymorphism as a risk factor for NS-CLP, and to associate each genotype of this polymorphism with MYH9 gene mRNA expression in the Indonesian Deutero-Malay population. This study is a case-control design with 60 samples: 30 NS-CLP subjects and 30 control subjects. All subjects were from the Deutero-Malay subrace, which is the majority subrace in Indonesia. For mRNA expression analysis, RNA was isolated from the oral epithelium of all subjects, and real-time (RT) polymerase chain reaction (PCR) was performed. The mRNA expression changes were analyzed using the Livak method (2−ΔΔCt), and statistical analysis was performed using the Mann-Whitney test. For the MYH9 rs12107 gene polymorphism, DNA was isolated from venous blood, followed by PCR and Sanger sequencing. Chi-square test was used to analyze allele and genotype frequencies. In general, MYH9 mRNA expression was 0.39 times lower in the NS-CLP compared to the control (underexpression), with a significant difference (p=0.001). For the MYH9 rs12107 gene polymorphism, it was shown that the T mutant allele (OR=1.217, p=0.658) was more in NS-CLP than in control, the CT genotype (OR=0.545, p=0.273) was more in control than in NS-CLP, and the TT genotype (OR=1.529, p=0.426) was more in NS-CLP than in control. The mRNA expression values for the CT and TT genotypes of MYH9 rs12107 were 0.239 and 0.178 lower in NS-CLP than in control (underexpression). In conclusion, among the Indonesian Deutero-Malay subrace, the MYH9 gene was underexpressed in NS-CLP, and the MYH9 rs12107 polymorphism was associated with underexpression in the CT and TT genotypes.
Analysis of MTR rs1805087 A2756G in non-syndromic cleft lip and palate and MTHFD1 rs2236225 G1958A in non-syndromic cleft palate among Indonesian Deutero-Malay population Saskia Lenggogeni Nasroen; Puteri Alvi Khoirianisa Sujaya; Nabila Ulul Azmi Ramadhani; Jeffrey; Rudi Satria Darwis
Dental Journal (Majalah Kedokteran Gigi) Vol. 59 No. 1 (2026): March
Publisher : Faculty of Dental Medicine, Universitas Airlangga https://fkg.unair.ac.id/en

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/j.djmkg.v59.i1.p68-73

Abstract

Background: Non-syndromic cleft lip and palate (NS CLP) and non-syndromic cleft palate (NS CP) are abnormalities arising from palate and lip fusion failure, which begins in the sixth week of pregnancy and is caused by multifactorial (genetic and environmental) factors. Methionine Synthase (MTR) rs1805087 A2756G and Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase, and Formyltetrahydrofolate Synthetase 1 (MTHFD1) rs2236225 G1958A are two genes suspected of being risk factors for NS CLP and NS CP, but they have not been studied in the Indonesian population. Purpose: This study aims to determine the risk factors for NS CLP and NS CP disorders in the Indonesian Deutero-Malay population. Methods: The results were obtained by analyzing the MTR rs1805087 A2756G (67 control and 35 NS CLP patients) and MTHFD1 rs2236225 G1958A (52 control and 49 NS CP patients) polymorphisms using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLPs) method. Results: This study found no polymorphism among all MTR rs1805087 A2756G participants. As for the MTHFD1 rs2236225 G1958A gene, there were no significant results found, but the A mutant allele (OR=0.613, p=0.115) and the AA mutant homozygote genotype (OR=0.521, p=1.000) appear to be protective factors. Conclusion: This study concluded that MTR rs1805087 A2756G and MTHFD1 rs2236225 G1958A are not risk factors for NS CLP and NS CP in the Indonesian Deutero-Malay population.
Co-Authors Annisa Namira Dewi Lidya Ichwana Nasution Jeffrey Jeffrey Jeffrey Kayla Keishafa Siti Hallina Nabila Ulul Azmi Ramadhani Puteri Alvi Khoirianisa Sujaya Rudi Satria Darwis Unik Imiati Nurfadhillah