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All Journal Global Medical and Health Communication Dental Journal (Majalah Kedokteran Gigi) Padjadjaran Journal of Dentistry Chimica et Natura Acta Jurnal Abdimas Kartika Wijayakusuma
Nasroen, Saskia Lenggogeni
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Agriculture, Biological Sciences & Forestry Humanities Biochemistry, Genetics & Molecular Biology Chemistry Dentistry Education Environmental Science Health Professions Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology Nursing Public Health Social Sciences Other

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Optimizing examination of methylenetetrahydrofolate reductase gene promoter methylation in cleft lip with or without cleft palate non-syndromic patients using the pyrosequencing method Maskoen, Ani Melani; Rahayu, Nurul Setia; Nasroen, Saskia Lenggogeni
Dental Journal (Majalah Kedokteran Gigi) Vol. 57 No. 3 (2024): September
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.v57.i3.p184-188

Abstract

Background: Cleft lip with or without cleft palate (CL/P) is the most common congenital anomaly found in Indonesia. CL/P is caused by hereditary (genetic) and environmental factors. Environmental factors can result in methylation in the promoter of the methylenetetrahydrofolate reductase (MTHFR) gene, affecting its expression. Methylation takes place at the CpG site found at chromosome 1, coordinates 11,805,406–11,806,509. Pyrosequencing technology can detect the percentage methylation of a gene quickly, simply, and accurately. Purpose: The aim of the study is to optimize detection of methylation of the MTHFR gene using the pyrosequencing method. Methods: Methods used in this study were DNA extraction from blood, DNA bisulfite conversion, polymerase chain reaction (PCR), and methylation detection using CpG pyrosequencing assay. Samples were taken from 20 CL/P patients (C) and 44 normal patients (N). Results: The pyrosequencing method was successful in detecting methylation at three MTHFR gene sites at coordinates 11,805,507–11,805,529. The methylation level at the third site was higher in group C than in group N, while at the first and second positions, group C had a lower methylation level than group N. In general, the percentage of methylation for both groups was low or hypomethylated (less than 5%). Conclusion: The pyrosequencing method can be used to determine methylation levels in the MTHFR gene with the results presented as percentages (quantitative data). Hypomethylation occurs in groups C and N at the coordinates 11,805,507–11,805,529 of the MTHFR gene promoter.
Analysis of FOXE1 rs4460498 and GSTP-1 I105V associated with non syndromic cleft lip and palate among Deutero Malay Subrace in Indonesia Nasroen, Saskia Lenggogeni; Meliawaty, Florence; Tammama, Tichvy; Prasdiaz, Putri Indriani; Choirunnisa, Tias; Maskoen, Ani Melani
Padjadjaran Journal of Dentistry Vol 34, No 3 (2022): November 2022
Publisher : Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/pjd.vol34no3.39296

Abstract

ABSTRACTIntroduction: FOXE1 rs4460498 and GSTP-1 I105V gene polymorphisms are suspected of having a role in some of the non-syndromic cleft lip and palate (NS CLP) populations worldwide. This study aims to analyze FOXE1 rs4460498 and GSTP-1 I105V polymorphisms associated with NS CLP as the risk factor among Deutero Malay Subrace in Indonesia. Methods: This study was a case-control design, using samples from the venous blood of 102 NS CLP subjects and 102 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using TasI restriction enzyme on 100 blood samples of FOXE1 rs4460498 group and Alw26I restriction enzyme on 105 blood samples of the GSTP-1 I105V group. The Chi-Square test was used with the Kolmogorov Smirnov and Exact Fisher alternatives. Results: T mutant allele (OR= 0.926, p>0.05) and CT genotype (OR= 0.0, p>0.05) of FOXE1 rs4460498 and the G mutant allele (OR= 0.988,p>0.05) and AG genotype (OR= 0.675,p>0.05) of the GSTP-1 I105V are not the risks of NS CLP. Conclusion: FOXE1 rs4460498 and GSTP-1 I105V gene polymorphisms are not associated with non-syndromic cleft lip and palate among Deutero Malay Subrace in the Indonesian population.Key words: deutero malay; FOXE1 rs4460498; GSTP-1 I105V; NS CLP
Polymorphisms of RS7055763 and RS41307258 in TBX22 Gene Haplotype as Risk Factors for Non-syndromic Cleft Palate Indonesian Deutero-Malay Population Susanti, Nita; Ullah, Irfan; Sulaksono, Haura Labibah Salsabil; Nasroen, Saskia Lenggogeni; Maskoen, Ani Melani
Global Medical & Health Communication (GMHC) Vol 12, No 3 (2024)
Publisher : Universitas Islam Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.29313/gmhc.v12i3.13677

Abstract

Non-syndromic cleft palate (NS-CP) is a multifactorial congenital malformation affected by genetic and environmental factors. The incidence of non-syndromic cleft lip with or without cleft palate (NS-CLP) varies considerably between ethnic groups and geographical regions. TBX22 is a crucial determinant for the formation of intramembranous bone in the posterior hard palate. Therefore, TBX22 is fundamental to palatogenesis and supports normal palate progress. The rs7055763 and rs41307258 polymorphisms in the TBX22 gene are associated with risk factors for NS-CP in the Indonesian Deutero-Malay population. In the previous study, NS-CP still needed to be investigated in the Deutero-Malay population. However, there are different races, mainly for the Deutero-Malay population. This study aims to determine whether rs7055763 and rs41307258 polymorphisms in the TBX22 gene are risk factors for NS-CP in the Deutero-Malay population. This study was conducted in Terpadu Laboratory, Faculty of Dentistry, Universitas Padjadjaran, from February until June 2023. The design of this study was a case-control study. The DNA patient samples were obtained from saliva and whole blood. Moreover, DNA is extracted, and the rs7055763 and rs41307258 segments are analyzed using PCR and Sanger sequencing. PCR data was analyzed by chi-square testing. In this study analysis, polymorphisms of rs7055763 (G>A) and rs41307258 (T>A) in the TBX22 gene show no significant differences between case and control groups, namely 0.911 and 0.645, respectively. However, the genotype in the rs41307258 shows the p-value as 0.027, indicating substantial differences and the OR is 1.390. In conclusion, the rs7055763 and rs41307258 polymorphisms in the TBX22 gene do not appear to be risk factors for developing NS-CP in the Indonesian Deutero-Malay population.
The Role of Transforming Growth Factor-Beta, Fibroblast Growth Factor, Platelet-derived Growth Factor, Epidermal Growth Factor, Insulin-like Growth Factor, Vascular Endothelial Growth Factor, and Sonic Hedgehog in the Non-syndromic cleft lip with or without cleft palate development: A Scoping Review Ullah, Irfan; Khan, Muhammad Salman; Nasroen, Saskia Lenggogeni; Maskoen, Ani Melani; Sarilita, Erli
Chimica et Natura Acta Vol 12, No 3 (2024)
Publisher : Departemen Kimia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/cna.v12.n3.51493

Abstract

Non-syndromic cleft lip with or without cleft palate (NSCLP) birth defect, it imposes an enormous stress on society and requires nutrition, dental, speech, behavioural, and surgical therapies. The NSCLP multifactorial aetiology, including the environment and genetic factors. The environment and genetic factors affect the cellular mechanism, cell proliferation, cell differentiation, and cell migration and signalling pathways. Genetic growth factors including Transforming Growth Factor-Beta (TGF-β), Fibroblast Growth factors (FGFs), Platelet-derived Growth factors (PDGFs), Epidermal Growth factor (EGF), Insulin-like growth factors (IGF), Vascular Endothelial Growth factor (VEGF), Sonic Hedgehog (SHH). The study aims to understand the role of the growth factors “TGF-β, FGFs, PDGFs, EGF, IGF, VEGF, and SHH” in NSCLP development. Preferential Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) standards were followed when performing this scoping review. The 942 articles were extracted, and the following inclusion and exclusive criteria 43 articles were eligible for review. Twenty-seven studies identify 26 genes and 25 single-nucleotide polymorphisms (SNPs)/variants of the growth factors that are a significant risk for NSCLP development. In conclusion, the analysis of diverse populations and growth factors including TGF-β, FGFs, PDGFs, EGF, IGF, VEGF, and SHH were associated with NSCLP. The growth factors were involved in the cellular mechanism, cell proliferation, cell differentiation cell migration and signalling pathways that lead to the pathogenesis of NSCLP.
The effects of IRF6 rs2235373 polymorphism on mRNA expression changes in non-syndromic cleft lip and palate with various phenotypes Nasroen, Saskia Lenggogeni; Maskoen, Ani Melani; Soedjana, Hardisiswo; Soeria Soemantri, Eky Setiawan; Hilmanto, Dany
Padjadjaran Journal of Dentistry Vol 30, No 3 (2018): November 2018
Publisher : Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (350.552 KB) | DOI: 10.24198/pjd.vol30no3.17949

Abstract

Introduction: The IRF6 rs2235373 (C/T) is a polymorphism in the intron region that has been associated with non-syndromic cleft lip and palate (NS CLP) among some populations. Polymorphism in introns can also affect the transcription that should be detected through some changes in IRF6 mRNA expression. This study was aimed to evaluate the effects of IRF6 rs2235373 polymorphism on mRNA expression changes in NS CLP with its phenotypes which include complete unilateral (CU) CLP, complete bilateral (CB) CLP, cleft lip only (CLO), and cleft palate only (CPO). Methods: This study was a laboratory analytical study, using samples from 198 individuals in Indonesia (136 individuals with NS CL/P consisted of CU CLP (n=42), CB CLP (n=34), CLO (n=33), CPO (n=27), and 62 individuals as controls). DNA was extracted from venous blood, and the segment of rs2235373 was evaluated by PCR and Sanger sequencing. mRNA expressions analysis preceded by RNA extraction from oral epithelium, then real-time (RT) PCR was performed. mRNA expression changes were analysed by Livak method and Kruskal Wallis test followed by the Mann Whitney test through CC, GT, and TT genotype. Result: The mRNA expression of TT genotype from NS CU CLP and control was 3.36 higher value than CC genotype (p=0.008), and the mRNA expression of CT genotype from NS CB CLP and control was 0.16 lower value than CC genotype (p=0.000). Conclusion: The IRF6 rs2235373 polymorphism of TT genotype tend to cause mRNA overexpression in NS CU CLP, and CT genotype tend to cause mRNA underexpression in NS CB CLP.Keywords: Non-syndromic cleft lip and palate, NS CLP phenotype, IRF6, rs2235373, mRNA expression.
Penyuluhan Kesehatan Gigi Mulut untuk Meningkatkan Pengetahuan Keluarga Pasien Celah Bibir dan Langit-Langit sebagai Implementasi Program Merdeka Belajar Kampus Merdeka Nasroen, Saskia Lenggogeni; Yuslianti, Euis Reni; Meliawaty, Florence; Ardan, Rachman; Isnaeni, Rheni Safira; Irsyad, Widya; Irfianti, Isti
Jurnal Abdimas Kartika Wijayakusuma Vol 3 No 1 (2022): Jurnal Abdimas Kartika Wijayakusuma
Publisher : LPPM Universitas Jenderal Achmad Yani

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.26874/jakw.v3i1.172

Abstract

Masyarakat yang keluarganya mengalami kondisi bibir sumbing atau celah bibir dan langit-langit mayoritas berasal dari kalangan ekonomi lemah. Kelainan bawaan yang bermanifestasi dari bibir atas ke gusi, dan langit-langit yang tidak sepenuhnya menyatu atau berkembang secara terpisah yang dapat disebabkan oleh faktor genetik dan lingkungan. Keluarga yang memiliki riwayat dengan celah bibir dan langit-langit penting mengetahui pengetahuan tentang celah bibir dan langit-langit. Kegiatan pengabdian masyarakat ini dilakukan sebagai implementasi program Merdeka Belajar Kampus Merdeka (MBKM) dosen dan mahasiswa Fakultas Kedokteran Gigi Unjani untuk membantu masyarakat luar kampus yang tidak terjangkau edukasi dari pelayanan kesehatan dengan intensif. Selain itu dilakukan penelitian dengan metode kuesioner kepada para orang tua penderita di Yayasan Pembina Penderita Celah Bibir dan Langit-langit Bandung. Data dianalisis T-test dependent (p<0,05). Hasil menunjukkan terdapat pengaruh signifikan terhadap peningkatan pengetahuan setelah penyuluhan dibandingkan dengan sebelum penyuluhan pada keluarga pasien celah bibir dan langit-langit (p=0,00). Dapat disimpulkan bahwa program MBKM yang dilaksanakan dapat berperan pada perubahan pengetahuan keluarga mengenai kesehatan gigi dan mulut pasien dengan riwayat celah bibir dan langit-langit setelah dilakukannya penyuluhan.
Pengaruh Penyuluhan Terhadap Pengetahuan Masyarakat Mengenai Penatalaksanaan Avulsi Gigi Tammama, Tichvy; Nasroen, Saskia Lenggogeni; Pratama, Gelady Putra
Jurnal Abdimas Kartika Wijayakusuma Vol 4 No 2 (2023): Jurnal Abdimas Kartika Wijayakusuma
Publisher : LPPM Universitas Jenderal Achmad Yani

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.26874/jakw.v4i2.298

Abstract

Avulsi gigi yaitu terlepasnya gigi secara keseluruhan dari jaringan penyangga di sekitarnya, umumnya karena trauma. Gigi yang avulsi dapat dikembalikan ke dalam soketnya, apabila kondisi memungkinkan. Kejadian avulsi gigi umum terjadi pada masyarakat, namun kebanyakan masyarakat masih kurang memahami mengenai penatalaksanaan gigi avulsi, sehingga perlu diadakan edukasi. Kegiatan pengabdian kepada masyarakat ini bertujuan mengetahui pengaruh penyuluhan terhadap pengetahuan masyarakat mengenaipenatalaksanaan avulsi gigi. Metode pelaksanaannya dalam bentuk penyuluhan mengenai avulsi gigi bagi pasien dan pengantar yang datang ke Poli Gigi RSD Gunung Jati, lalu peserta mengisi lembar soal mengenai avulsi gigi pada saat sebelum dan setelah penyuluhan. Hasil jawaban yang didapat kemudian diolah untuk dibandingkan antara nilai sebelum dan setelah penyuluhan. Hasil kegiatan menunjukkan terdapat peningkatan nilai jawaban setelah dilakukan penyuluhan dari 56% (sedang) menjadi 80% (baik). Dari kegiatan pengabdian kepada masyarakat tersebut diperoleh kesimpulan terjadi peningkatan pengetahuan masyarakat mengenai penatalaksanaan avulsi gigi melalui kegiatan penyuluhan.
Analysis of FOXE1 rs3758249, IRF6 rs2235375, MTRR A66G in Non-syndromic Cleft Lip and Palate among Indonesian Deutero-Malay Population Nasroen, Saskia Lenggogeni; Maskoen, Ani Melani; Rahaju, Asih; Darwis, Rudi Satria; Putri, Maulia; Rachman, Levina Azzahra; Zannah, Putry Nurul
Global Medical & Health Communication (GMHC) Vol 12, No 3 (2024)
Publisher : Universitas Islam Bandung

Show Abstract | Download Original | Original Source | Check in Google Scholar

Abstract

Non-syndromic cleft lip and palate (NS-CLP) is one of the most common orofacial malformations, with an incidence of 1 in 700 live births worldwide. This study aimed to determine the risk factor for NS-CLP among the Indonesian Deutero-Malay population by analyzing the FOXE1 rs3758249, IRF6 rs2235375, and MTRR A66G polymorphisms. It is a case-control study, using 50 samples of NS-CLP patients and 50 samples of control (for FOXE1 rs3758249 and MTRR A66G), 30 samples of NS-CLP patients, and 30 samples of control (for IRF6 rs2235375). After DNA was extracted, polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPs) were performed by using restriction enzymes of Mscl (FOXE1 rs3758249) and Nde1 (MTRR A66G), and sequencing was performed for IRF6 rs2235375. The study was done in the Molecular Genetic Laboratory, Faculty of Dentistry Universitas Padjadjaran Bandung, from September 2023 to January 2024. The chi-square test was used with the exact Fisher's alternatives. The results showed that in FOXE1 3758249, A allele (mutant) was found more in control (OR=0.744, p>0.05), in MTRR A66G, G allele (mutant) was found more in NS-CLP (OR=1.267, p>0.05) meanwhile in IRF6 rs2235375, G allele (mutant) (OR=1.710, p>0.05) was found more in NS-CLP. This study concluded that FOXE1 rs 3758249, IRF6 rs2235375, and MTRR A66G genes were not the risk factor for NS-CLP in the Indonesian Deutero-Malay population. DOI: https://doi.org/10.29313/gmhc.v12i3.14110
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 Nasroen, Saskia Lenggogeni; Sujaya, Puteri Alvi Khoirianisa; Ramadhani, Nabila Ulul Azmi; Jeffrey; Darwis, Rudi Satria
Dental Journal (Majalah Kedokteran Gigi) Vol. 59 No. 1 (2026)
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 Ani Melani Maskoen Choirunnisa, Tias Dany Hilmanto Darwis, Rudi Satria Eky Setiawan Soeria Soemantri Florence Meliawaty Hardisiswo Soedjana Irfianti, Isti Irsyad, Widya Isnaeni, Rheni Safira Jeffrey Khan, Muhammad Salman Maulia Putri, Maulia Nita Susanti Prasdiaz, Putri Indriani Pratama, Gelady Putra Rachman Ardan, Rachman Rachman, Levina Azzahra Rahaju, Asih Rahayu, Nurul Setia Ramadhani, Nabila Ulul Azmi Sarilita, Erli Sujaya, Puteri Alvi Khoirianisa Sulaksono, Haura Labibah Salsabil Tichvy Tammama, Tichvy Ullah, Irfan Yuslianti, Euis Reni Zannah, Putry Nurul