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All Journal The Indonesian Biomedical Journal Molecular and Cellular Biomedical Sciences (MCBS) Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research
Andianto, Ivan Christian
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Biochemistry, Genetics & Molecular Biology Dentistry Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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The Role of rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population Sidarta, Erick; Sari, Triyana; Nataprawira, Sari Mariyati Dewi; Andianto, Ivan Christian; Sajiwo, Damar
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 8 No. 6 (2024): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v8i6.1002

Abstract

Background: Androgenetic alopecia (AGA) is a common form of hair loss which inflicts progressive hair loss leading to various patterns. The cause of this disease is believed to be multifactorial, which is majorly attributed to genetic and non-genetic factors. This pilot study aimed to investigate the association of rs6152 allele, a SNP on AR gene, with AGA, as well as explore other contributing factors in the Indonesian local population. Methods: In this cross-sectional study, a total of 100 participants, which categorized into alopecia subjects and non-alopecia subjects, were enrolled for rs6152 SNPs detection. Anthropomorphic data such as height and weight, blood pressure and family history were obtained by measurement and questionnaire. Results: The study showed low frequency of individuals with rs6152 non-risk alleles (2%) and further analysis showed no significant association between rs6152 allele and AGA. However, familial history analysis revealed a strong association between family history and AGA risks. Additionally, age, gender, hypertension status and BMI were identified as significant factors associated (p-value < 0.05) with AGA. Conclusion: rs6152 was not a reliable genetic marker for AGA in the Indonesian local population. While familial history with AGA showed the inheritance pattern of autosomal dominant inheritance with sex limitation, non-genetic factors such as age, gender, hypertension status and BMI were strongly associated with AGA risk. This shows the complexity and multifactorial causes of AGA in the Indonesian local population.
The Role of rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population Sidarta, Erick; Sari, Triyana; Nataprawira, Sari Mariyati Dewi; Andianto, Ivan Christian; Sajiwo, Damar
Bioscientia Medicina : Journal of Biomedicine and Translational Research Vol. 8 No. 6 (2024): Bioscientia Medicina: Journal of Biomedicine & Translational Research
Publisher : HM Publisher

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37275/bsm.v8i6.1002

Abstract

Background: Androgenetic alopecia (AGA) is a common form of hair loss which inflicts progressive hair loss leading to various patterns. The cause of this disease is believed to be multifactorial, which is majorly attributed to genetic and non-genetic factors. This pilot study aimed to investigate the association of rs6152 allele, a SNP on AR gene, with AGA, as well as explore other contributing factors in the Indonesian local population. Methods: In this cross-sectional study, a total of 100 participants, which categorized into alopecia subjects and non-alopecia subjects, were enrolled for rs6152 SNPs detection. Anthropomorphic data such as height and weight, blood pressure and family history were obtained by measurement and questionnaire. Results: The study showed low frequency of individuals with rs6152 non-risk alleles (2%) and further analysis showed no significant association between rs6152 allele and AGA. However, familial history analysis revealed a strong association between family history and AGA risks. Additionally, age, gender, hypertension status and BMI were identified as significant factors associated (p-value < 0.05) with AGA. Conclusion: rs6152 was not a reliable genetic marker for AGA in the Indonesian local population. While familial history with AGA showed the inheritance pattern of autosomal dominant inheritance with sex limitation, non-genetic factors such as age, gender, hypertension status and BMI were strongly associated with AGA risk. This shows the complexity and multifactorial causes of AGA in the Indonesian local population.
Prevalence of MMP-1 rs1799750 Polymorphism in Androgenetic Alopecia: A Cross-Sectional Study in an Indonesia Population Andianto, Ivan Christian; Sajiwo, Damar; Sidarta, Erick
Molecular and Cellular Biomedical Sciences Vol 9, No 3 (2025)
Publisher : Cell and BioPharmaceutical Institute

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21705/mcbs.v9i3.656

Abstract

Background: Matrix metalloproteinase-1 (MMP-1) is an enzyme responsible for degrading extracellular matrix (ECM) components, particularly collagen. Overexpression of MMP-1 can accelerate ECM degradation, contributing to various pathological conditions. The most studied polymorphism in the promoter region of the MMP-1 gene is rs1799750, which has been linked to several diseases in previous studies. Androgenetic alopecia (AGA) is a condition characterized by the progressive miniaturization of hair follicles, influenced by androgen signaling and ECM remodeling. This study aimed to investigate the prevalence of MMP-1 gene polymorphism and its potential association with AGA.Materials and methods: This study included 50 subjects diagnosed with AGA and 50 subjects without AGA. All subjects completed a questionnaire that included gender, age, BMI, and ethnicity. DNA was extracted from blood samples for genotyping of the MMP-1 rs1799750 gene. Genotyping was performed using the PCR-RFLP method with AluI as the restriction enzyme. For validation, several samples were sequenced at Apical Scientific Laboratory, Malaysia.Results: Among the 50 subjects with AGA, 9 had the 1G/1G genotype, 26 had the 1G/2G genotype, and 15 had the 2G/2G genotype. Similarly, among the 50 subjects without AGA, 8 had the 1G/1G genotype, 27 had the 1G/2G genotype, and 15 had the 2G/2G genotype. The allele frequencies of 1G and 2G in the AGA group were 0.44 and 0.56, respectively, while in the non-AGA group, they were 0.43 and 0.57, respectively. Chi-square analysis of AGA and MMP-1 genotype yielded a p-value of 0.96, indicating no significant association between AGA and the MMP-1 genotype.Conclusion: In this study, the association between the MMP-1 gene polymorphisms rs1799750 with AGA was not observed.Keywords: Androgenetic Alopecia, matrix metalloproteinase-1, polymorphisms, rs1799750
Association of FTO rs9939609, MC4R rs17782313, and TMEM18 rs6548238 Variants with Body Mass Index and Body Composition in Young Indonesian Adults Sidarta, Erick; Sari, Triyana; Nataprawira, Sari Mariyati Dewi; Andianto, Ivan Christian; Kumala, Meilani
The Indonesian Biomedical Journal Vol 17, No 6 (2025)
Publisher : The Prodia Education and Research Institute (PERI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18585/inabj.v17i6.3873

Abstract

BACKGROUND: Obesity is partly driven by genetic variation, including single-nucleotide polymorphisms (SNPs) in the Fat Mass and Obesity-associated (FTO), Melanocorti-4 Receptor (MC4R), and Transmembran Protein 18 (TMEM18) genes. However, only few Indonesian studies have integrated body composition analysis using bioelectrical impedance analysis (BIA) to evaluate the relationship between these genotypes and body mass index (BMI). Therefore, this study was conducted to investigate the association of FTO rs9939609, MC4R rs17782313, and TMEM18 rs6548238 with BMI and BIA-derived body composition parameters.METHODS: A cross-sectional study was conducted involving 111 healthy young adults aged 18–31 years olds. Subjects were examined for their body composition parameters using using the Quadscan 4000 BIA device, and then classified into obese (BMI≥25 kg/m2) and non-obese (BMI<25 kg/m2). Buccal rinse samples from each subjects were taken for the DNA extraction. Genotyping for FTO rs9939609, MC4R rs17782313, and TMEM18 rs6548238 were then performed using the Kompetitive Allele-Specific Polymerase Chain Reaction (KASPTM) method.RESULTS: Among 3 SNPs, only the A allele of FTO rs9939609 showed a significant association with increased BMI (p=0.0115) and several BIA parameters, including higher fat percentage (p=0.022), greater fat mass (p=0.0071), higher muscle mass (p=0.0334), and lower muscle mass percentage (p=0.022). Mediation analysis indicated that fat mass, fat-free mass index, body fat mass index, and total body water mediated 72.7–94.3% of the FTO effect on BMI, with an insignificant direct effect.CONCLUSION: FTO rs9939609 variant is significantly associated with higher BMI in Indonesia young adults, primarily mediated by alterations in fat and muscle mass. In contrast, MC4R rs17782313 and TMEM18 rs6548238 showed no significant associations. These findings underscore the value of integrating genetic profiling with BIA-based body composition measures to refine obesity risk assessment and clarify the regulatory role of the intronic FTO variant.KEYWORDS: FTO, MC4R, TMEM18, obesity, bioelectrical impedance analysis, genetic association, Indonesia
Co-Authors Meilani Kumala Nataprawira, Sari Mariyati Dewi Sajiwo, Damar Sidarta, Erick Triyana Sari Triyana Sari