Garuda - Garba Rujukan Digital

Distribution of rs1801279 and rs1799930 Polymorphisms in NAT2 Gene among Population in Kupang, Nusa Tenggara Timur, Indonesia Edhyana Sahiratmadja; Simeon Penggoam; Ani Melani Maskoen; Alvinsyah Adhityo Pramono; Dias Aryani; Nurul Setia Rahayu; Ramdan Panigoro
The Indonesian Biomedical Journal Vol 10, No 1 (2018)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v10i1.330

BACKGROUND: N-acetyltransferase-2 (NAT2) enzyme, encoded by NAT2 gene, plays a key role in metabolism of anti-tuberculosis (TB) drug isoniazid. Polymorphisms in NAT2 gene may result in different responses to TB therapy. Since TB prevalence in the eastern part of Indonesia is high, the aim of this study is to explore the distribution of NAT2 gene polymorphisms among population from Kupang, Nusa Tenggara Timur.METHODS: A total of 234 respondents were included from Kupang in 2012. Polymorphisms of NAT2 gene were examined using mass screening platform and the genotypes distribution were presented in percentage. To confirm NAT2 gene polymorphisms, polymerase chain reaction (PCR)-sequencing was performed in a subset of population.RESULTS: The polymorphisms of NAT2 gene showed that the distribution of rs1801279 for GG genotype was 100%; whereas the genotype distribution of rs1799930 for GG, GA and AA was 57%, 35.1% and 7.9%, respectively. In a subset of individuals (n13), acetylator status was well determined by PCR-sequencing, resulting in individual with wild type fast acetylator (NAT2*4; n4), intermediate (NAT2*4/*5 or NAT2*4/*6 or NAT2*4/*7; n7) and poor acetylators (NAT2*6/*6 or NAT2*7/*7; n2).CONCLUSION: The amino acid change in rs1799930 result in intermediate and poor acetylator status in Kupang population. This may lead to suboptimal response of TB therapy. Assessing acetylator status before TB therapy is important and may serve as personalized INH therapy.KEYWORDS: NAT2 gene, polymorphism, acetylator status, Kupang

IFNG Polymorphism (+874 T>A) is not a risk factor for cervical cancer Ani Melani Maskoen; Herman Susanto; Samsudin Surialaga; Edhyana Sahiratmadja
Universa Medicina Vol. 32 No. 1 (2013)
Publisher : Faculty of Medicine, Universitas Trisakti

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2013.v32.29 - 36

INTRODUCTION Cervical cancer cases are rising and many women are infected with human papillomavirus (HPV). Interferon gamma (IFN-ã) is one of the key regulatory cytokines that influence the HPV clearance. The production and the function of IFN-ã may impaired by the defect of the IFNG gene leading to the cervical malignant progression. This study aimed to examine the association between IFNG+874 T>A polymorphism and cervical cancer in women METHODS In a case-control study design, consecutive untreated women with cervical cancer who showed for the first time in Hasan Sadikin Hospital Bandung were enrolled (n=98) and for controls women who came for PAP smear (n = 81). Controls were not matched in ages and ethnicities. DNA extracted from blood was amplified by amplification refractory mutation system - polymerase chain reaction method (ARMS – PCR) to detect IFNG+874 T>A polymorphism. RESULTS The distribution of IFNG genotypes TT, TA and AA for women with cervical cancer who met the inclusion criteria (n= 64) and with negative intraepithelial lesion or malignancy (n=42) were 14.1%, 50.0%, 35.9% and 7.1%, 52.4%, 40.5%, respectively. No significant differences could be observed between both groups (p=0.64). Stratifying the cervical cancer women into a group of squamous cell carcinoma (n = 54) revealed no statistical different. CONCLUSION IFNG +874 T>A polymorphismseems not to contribute in susceptibility to cervical cancer. Identification of other variants in IFNG gene signaling and its role in the development of cervical cancer diseases need to be further examined.

Natural resistance-associated macrophage protein 1 gene polymorphisms in thalassemia patients with tuberculosis infection Mohammad Ghozali; Sari Puspa Dewi; Reni Ghrahani; Ani Melani Maskoen; Lelani Reniarti; Edhyana Sahiratmadja; Tri Hanggono Achmad
Paediatrica Indonesiana Vol 56 No 2 (2016): March 2016
Publisher : Indonesian Pediatric Society

that needs regular blood transfusions leading to accumulation of iron in the cells. This iron overload level in macrophage might cause intracellular bacteria, particularly Mycobacterium tuberculosis (MTB) to multiply. Polymorphisms in natural resistance-associated macrophage protein 1 (NRAMP1), a metal transporter across the phagosome membrane, play important role in regulating iron, which is also needed by MTB. Increased iron in thalassemia patients may have an increased potential risk for TB.Objective To compare natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms (INT4, D543N, and 3â€™UTR) in thalassemia patients with and without tuberculosis (TB) infection.Methods A cross-sectional measurement of NRAMP1 genetic polymorphisms was performed in pediatric thalassemia patients with TB (n=40) and without TB (n=50). Iron status including serum iron, total iron-binding capacity (TIBC), and ferritin, was compared between the two groups. The NRAMP1 genetic polymorphisms were analysed using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Allelic and genotypic distributions of each polymorphism were assessed for possible associations with TB infection.Results Mean serum iron and TIBC in thalassemia patients with TB were higher compared to thalassemia patients without TB (mean serum: 166.26 vs. 134.92 Î¼mol/L, respectively; P=0.026) and (mean TIBC: 236.78 vs. 195.84 Î¼mol/L, respectively; P=0.029). In thalassemia patients with TB, we observed significantly higher frequency of the C allele in INT4 (10% vs. 2%, respectively; OR=5.44; 95%CI 1.1 to 26.4; P=0.02) and the TGTG deletion allele (78.8% vs. 51%, respectively; OR=3.56; 95%CI 1.83 to 6.9; P=0.0002) in 3â€™UTR polymorphisms than in thalassemia patients without TB. There were no significantÂ differences in distributions of the A allele between TB and non-TB groups (16.3% vs. 15%, respectively; P=0.84) or the GA genotype (32.5% vs. 30%, respectively; P=0.79) in D543N.Conclusion The NRAMP1 polymorphisms are known to be associated with major gene susceptibility to TB, and in our thalassemia patients this association is even more pronounced.

Influence of TLR-8 Gene Polymorphisms (rs3764880 and rs3788935) Associated to Pulmonary Tuberculosis in Kupang, Indonesia Charles, Afandi; Penggoam, Simeon; Maskoen, Ani Melani; Sahiratmadja, Edhyana
Indonesian Journal of Tropical and Infectious Disease Vol. 9 No. 1 (2021)
Publisher : Institute of Topical Disease Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/ijtid.v9i1.22056

Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacterial phagocytosis. Mycobacterium tuberculosis (Mtb) is intracellular pathogenic bacteria that is recognized by this receptor, and genetic variation of TLR-8 might alter susceptibility of the host towards pulmonary tuberculosis (PTB). This study aimed to determine whether TLR-8 gene polymorphisms were associated to PTB in Kupang, Indonesia. This case-control study compared demographic and clinical data between 115 PTB patients and 115 controls, then two TLR-8 single nucleotide polymorphisms (rs3764880 and rs3788935) were explored using the GoldenGate® Genotyping for VeraCode® / BeadXpress Illumina®. There is no significant difference between sex distribution of patient vs control groups. The polymorphisms (rs3764880 and rs3788935) are in Hardy-Weinberg Equilibrium in this population (p > 0.05). The distribution of major vs minor genotypes and alleles of TLR-8 polymorphisms in PTB patients were as followed: rs3764880 (GG vs GA vs AA, 50.0% vs 21.4% vs 28.6% ; G vs A, 60.9% vs 39.1% ) and rs3788935 (GG vs GA vs AA, 53.0% vs 21.7% vs 25.3%; G vs A, 62.9% vs 37.1%). Neither genotypes nor alleles were associated with PTB in this population (P > 0.05). Besides, when the analyses were stratified by gender, none of the alleles of polymorphism in both genders were associated with PTB cases. None of the TLR-8 polymorphisms have associated the risk of developing PTB in Kupang, East Nusa Tenggara population (as opposed to other studies in different ethnic groups). These might reflect the diversity of genetic polymorphisms in eastern Indonesia populations, suggesting different genetic backgrounds with western part of Indonesia.

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

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

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

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

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.

FLOWABILITY OF NANOPARTICLES OF CALCIUM HYDROXIDE PALIMANAN IN DENTINAL TUBULE Sidiqa, Atia Nurul; Muqdas, Faza Annisa; Artilia, Ira; Zakaria, Myrna Nurlatifah; Joni, I Made; Maskoen, Ani Melani
Odonto : Dental Journal Vol 11, No 2 (2024): December 2024
Publisher : Faculty of Dentistry, Universitas Islam Sultan Agung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30659/odj.11.2.282-289

Background: Intracanal medicaments Ca(OH)₂ must have the ability to contact directly with bacteria adhering to the dentinal tubules. However, the narrow and complex shape of the root canal makes it difficult for Ca(OH)2 to penetrate the root canal apically. This research aimed to assess the flowability of nanoparticle Ca(OH)₂ Palimanan by quantifying the penetration of the coronal, middle, and apical thirds of the root canal.Methods: This research comprised two distinct groups: one group included nanoparticles of Ca(OH)₂ Palimanan, while the other consisted of conventional Ca(OH)₂. The paste was then applied to standardized root canals (n=3 per group) with 5 times measurements for each sample. All samples were then incubated at 37oC, 100% humidity. The flowability of the root canals was measured using scanning electron microscopy (SEM) on day 14. The data was analyzed using ANOVA and a post-hoc t-test, with a significance level of p<0.05.Results: The use of Ca(OH)₂ Palimanan has been found to be more effective in reaching deeper into the dentinal tubules of the root canal, particularly in the coronal, middle, and apical areas, compared to traditional Ca(OH)₂. This occurs because the particle size of Ca(OH)₂ Palimanan is smaller with a more rounded shape than conventional Ca(OH)₂ so that it to flow into narrow and complex areas, especially in the apical root canals.Conclusion: Nanoparticle Ca(OH)₂ Palimanan flow deeper than conventional Ca(OH)₂

FLOWABILITY OF NANOPARTICLES OF CALCIUM HYDROXIDE PALIMANAN IN DENTINAL TUBULE Sidiqa, Atia Nurul; Muqdas, Faza Annisa; Artilia, Ira; Zakaria, Myrna Nurlatifah; Joni, I Made; Maskoen, Ani Melani
Odonto : Dental Journal Vol 11, No 2 (2024): December 2024
Publisher : Faculty of Dentistry, Universitas Islam Sultan Agung

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.30659/odj.11.2.282-289

Background: Intracanal medicaments Ca(OH)₂ must have the ability to contact directly with bacteria adhering to the dentinal tubules. However, the narrow and complex shape of the root canal makes it difficult for Ca(OH)2 to penetrate the root canal apically. This research aimed to assess the flowability of nanoparticle Ca(OH)₂ Palimanan by quantifying the penetration of the coronal, middle, and apical thirds of the root canal.Methods: This research comprised two distinct groups: one group included nanoparticles of Ca(OH)₂ Palimanan, while the other consisted of conventional Ca(OH)₂. The paste was then applied to standardized root canals (n=3 per group) with 5 times measurements for each sample. All samples were then incubated at 37oC, 100% humidity. The flowability of the root canals was measured using scanning electron microscopy (SEM) on day 14. The data was analyzed using ANOVA and a post-hoc t-test, with a significance level of p<0.05.Results: The use of Ca(OH)₂ Palimanan has been found to be more effective in reaching deeper into the dentinal tubules of the root canal, particularly in the coronal, middle, and apical areas, compared to traditional Ca(OH)₂. This occurs because the particle size of Ca(OH)₂ Palimanan is smaller with a more rounded shape than conventional Ca(OH)₂ so that it to flow into narrow and complex areas, especially in the apical root canals.Conclusion: Nanoparticle Ca(OH)₂ Palimanan flow deeper than conventional Ca(OH)₂

Title

Found 27 Documents
Search

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Title Search

Found 27 Documents Search

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Abstract

Title

Found 27 Documents
Search