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All Journal Syntax Literate: Jurnal Ilmiah Indonesia Journal of Epidemiology and Public Health Proceedings of the International Conference on Applied Science and Health Global Health Management Journal Tunas Medika Jurnal Kedokteran & Kesehatan The Indonesian Journal of Gastroenterology, Hepatology and Digestive Endoscopy Jurnal Sains dan Kesehatan KOLONI InaBHS (Indonesian Journal of Biomedicine and Health Science)
Donny Nauphar
Universitas Swadaya Gunung Jati
Humanities Biochemistry, Genetics & Molecular Biology Civil Engineering, Building, Construction & Architecture Education Environmental Science Health Professions Law, Crime, Criminology & Criminal Justice Medicine & Pharmacology Nursing Public Health Social Sciences Other

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Angiotensin-Converting Enzyme Insertion/Deletion (ACE I/D) Gene Polymorphism as a Risk Factor for Essential Hypertension Kuswara, Hasna Nurazizah; Nauphar, Donny; Sari, Ariestya Indah Permata
GHMJ (Global Health Management Journal) Vol. 7 No. 3s (2024)
Publisher : Yayasan Aliansi Cendekiawan Indonesia Thailand (Indonesian Scholars' Alliance)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35898/ghmj-741044

Abstract

Background: Hypertension is the leading cause of death globally due to its complications, including coronary heart disease and stroke. In 2018, hypertension cases in West Java were the second highest among all populations in Indonesia. Genetics is one of the unmodifiable risk factors for hypertension. Angiotensin-converting enzyme insertion/deletion (ACE I/D) gene polymorphism could affect ACE production in the renin-angiotensin-aldosterone system (RAAS), which is linked to the regulation of blood pressure. Aims: To analyze ACE I/D gene polymorphism as a risk factor for hypertension in Cirebon. Methods: An observational analysis with a case-control design was used in this study. Blood samples were collected from 30 hypertensive patients and 30 healthy individuals at Talun Health Center. DNA extraction was performed to evaluate polymorphisms using ARMS-PCR. Statistical analyses, including the Chi-square test, Fisher’s exact test, Mann-Whitney, and Kruskal-Wallis test, were conducted to compare the case and control groups. The odds ratio was calculated to see the risk of the assessed variables, including genotype, allele frequency, and the presence of ACE I/D gene polymorphism. Results: In the case group, the frequency of the II genotype was 2 (6.7%), the ID genotype was 25 (83.3%), and the DD genotype was 3 (10.0%). In the control group, the frequency of the II genotype was 2 (6.7%), the ID genotype was 26 (86.7%), and the DD genotype was 2 (6.7%). Statistically, there was no significant association between ACE I/D gene polymorphisms in essential hypertension patients and healthy people (p=0.500; OR=1.556; 95% CI=0.241-10.049). Conclusion: ACE I/D gene polymorphism was not significantly associated with essential hypertension in Cirebon, West Java, Indonesia.    Received: 25 September 2024  |  Reviewed: 21 October 2024  |  Revised: 23 November 2024  |  Accepted: 30 November 2024.
Association of rs9939609 FTO Gene Polymorphism as a Risk Factor of Obesity in Adults Pratamawati, Tiar Masykuroh; Sadji, Angel Angriani Elma Budai; Brajadenta, Gara Samara; Nauphar, Donny
GHMJ (Global Health Management Journal) Vol. 7 No. 1 (2024)
Publisher : Yayasan Aliansi Cendekiawan Indonesia Thailand (Indonesian Scholars' Alliance)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35898/ghmj-71967

Abstract

Background: The cause of obesity is an imbalance between the number of calories taken and the amount burned. Obesity is a complex disease. The FTO rs9939609 gene polymorphism is one of the genetic factors that contribute to obesity in addition to environmental factors. Numerous researches have suggested a connection between the prevalence of obesity and the FTO rs9939609 gene polymorphism Aims: The purpose of this study is to ascertain how the FTO rs9939609 gene polymorphism relates to the prevalence of adult obesity. Methods: At the Biomolecular and Genetics Laboratory of the UGJ Faculty of Medicine, an analytical observational study using a case-control design was carried out with 84 participants, 42 subjects in case group, and 42 subjects in control groups. Data were collected utilizing DNA from blood collection, PCR-RFLP for genotyping, and 2.5% electrophoretic gel for visualization. Chi-square was used for data analysis. Results: Findings showed that there is no link between the FTO rs9939609 polymorphism and the prevalence of obesity (p>0.05, OR=0.710). Conclusion: In the Indonesian population, the FTO rs9939609 gene polymorphism is not associated with an increased risk of obesity.
POLIMORFISME GEN ANGIOTENSIN II TYPE 1 RECEPTOR (A1166C) SEBAGAI FAKTOR RISIKO PADA PASIEN DENGAN HIPERTENSI ESENSIAL DI KABUPATEN CIREBON Pratamawati, Tiar Masykuroh; Akbarahma, Ikrama; Zein, Ahmad Fariz Malvi Zam Zam; Sulistiyana, Catur Setiya; Suhaeni, Eni; Nauphar, Donny
InaBHS (Indonesian Journal of Biomedicine and Health Science) Vol 4 No 1 (2025): Indonesian Journal of Biomedicine and Health Science
Publisher : Fakultas Kedokteran UGJ Cirebon

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33603/inabhs.v4i1.10797

Abstract

Abstrak Latar Belakang: Hipertensi merupakan salah satu penyakit dengan prevalensi tertinggi, termasuk di Kabupaten Cirebon. Salah satu penyebab hipertensi esensial adalah pengaruh genetik. Mutasi pada gen yang berhubungan dengan hipertensi dapat memengaruhi sistem renin-angiotensin dalam mengatur tekanan darah. Polimorfisme gen AGTR1 (A1166C) terkait dengan peningkatan aktivitas angiotensin II dan berhubungan dengan hipertensi esensial. Tujuan: Penelitian ini bertujuan untuk mengetahui hubungan polimorfisme gen AGTR1 (A1166C) sebagai faktor risiko pada pasien hipertensi esensial di Kabupaten Cirebon. Metode: Penelitian ini dilakukan dengan metode observasional analitik dengan pendekatan kasus-kontrol dan melibatkan 34 pasien hipertensi dan 34 kontrol sehat. PCR-RFLP digunakan untuk memeriksa polimorfisme. Analisis data dilakukan dengan chi square test dan odds ratio. Hasil: Analisis data menunjukkan tidak ada hubungan yang signifikan pada polimorfisme gen AGTR1 (A1166C) dengan hipertensi esensial (p=0,050), namun hasil perhitungan odds ratio menunjukkan bahwa polimorfisme gen AGTR1 (A1166C) memiliki peluang 3,164 kali lebih besar berisiko untuk memiliki hipertensi esensial (OR=3,164). Simpulan: Tidak terdapat hubungan yang signifikan antara polimorfisme gen AGTR1 (A1166C) dengan kejadian hipertensi esensial. Kata Kunci: polimorfisme gen AGTR1 A1166C, Hipertensi Abstract Background: Hypertension is a disease with a fairly high prevalence, including in Cirebon Regency. One of the causes of essential hypertension is genetic influence. Mutations in genes associated with hypertension can affect the renin-angiotensin system in regulating blood pressure. AGTR1 Gen Polymorphism (A1166C) is related to increased angiotensin II activity and associated with essential hypertension. Aim: This study aims to determine the relationship between AGTR1 (A1166C) gene polymorphism as a risk factor in essential hypertension patients in Cirebon Regency. Methods: This study was conducted using an analytical observational method with a case-control approach and involved 34 hypertensive patients and 34 healthy controls. PCR-RFLP was used to check for polymorphisms. Data analysis was carried out with chi square test and odds ratio. Result: Data analysis showed that there was no significant relationship between the AGTR1 gene polymorphism (A1166C) and essential hypertension (p=0.050), however the odds ratio calculation results showed that the AGTR1 (A1166C) gene polymorphism had a 3.164 times greater chance of having essential hypertension (OR =3.164). Conclusion: There is no significant relationship between the AGTR1 gene polymorphism (A1166C) and the incidence of essential hypertension. Keywords: AGTR1 gene A1166C polymorphism, Hypertension
Peroxisome Proliferator-Activated Receptor Gamma (PPARG2) rs3856806 Gene Polymorphism as a Risk Factor for Type 2 Diabetes Mellitus Fauzaan Azhar Rizqulloh; Donny Nauphar; Tiar Masykuroh Pratamawati
GHMJ (Global Health Management Journal) Vol. 9 No. 2 (2026)
Publisher : Yayasan Aliansi Cendekiawan Indonesia Thailand (Indonesian Scholars' Alliance)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35898/ghmj-921320

Abstract

Background: Diabetes Mellitus (DM) is a long-term metabolic illness brought on by either insufficient or inefficient insulin production by the pancreas. Worldwide, 537 million adults between the ages of 20 and 79 are thought to have DM. Genetics is one of the risk factors involved in the pathophysiology of type 2 DM. The gene encodes PPARG2 protein, a group of proteins that are part of the core receptor in carbohydrate and lipid metabolism. Among the two isoforms, PPARG2 is specific to adipose tissue and plays an important role in adipogenesis and mediating insulin sensitivity. Aims: This study aims to examine the PPARG2 rs3856806 gene polymorphism as a risk factor for the occurrence of type 2 diabetes mellitus in the Cirebon population. Methods: This case-control study involved 30 cases of type 2 DM and 30 healthy controls. Data were obtained with blood sugar level test, DNA extraction, and PCR-RFLP with Eco72I restriction enzyme, followed by visualization of results using gel electrophoresis. Results: The C Allele frequency was higher in the case group (76.6%) while the T Allele frequency was higher in the control group (56.6%). The CT heterozygote genotype frequency was more common in the control group (86.7%) and the TT homozygous mutant genotype frequency was higher in the case group (3%) compared to the control group (0%). The results of the Chi-Square Test obtained a p-value of 0.001 with an OR value of 0.118 (CI95%=0.033-0.422). Conclusion: The PPARG2 rs3856806 polymorphism was significantly associated with lower odds of type 2 diabetes mellitus in the population of Cirebon, Indonesia, when analyzed under a dominant genetic model comparing T-allele carriers (CT + TT) to non-carriers (CC).
Gambaran Ct Value pada Swab Pertama dan Swab Kedua Covid 19 pada Anak di Indramayu Warih Kuncoro Mukti; Indriani Silvia; Donny Nauphar
Jurnal Sains dan Kesehatan Vol. 10 No. 1 (2026): Juni : Jurnal Sains dan Kesehatan (JUSIKA)
Publisher : Universitas Muhamadiyah Manado

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.57214/jusika.v10i1.1124

Abstract

Corona Virus Disease 2019 (COVID-19) is an infectious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The first case was identified in Wuhan, China, in December 2019. The World Health Organization declared COVID-19 a Public Health Emergency of International Concern (PHEIC) on January 30, 2020, and a pandemic on March 11, 2020. This study aimed to determine the results of CT Value images on the first and second swab tests of children with COVID-19 in Indramayu. A descriptive design was used with total sampling, involving 54 respondents. Secondary data were analyzed using univariate analysis. On the first swab test, 27 children (50.0%) had a strong positive Ct Value, 26 children (48.1%) were positive, and 1 child (1.9%) had a weak positive Ct Value. On the second swab test, 23 children (71.9%) were positive, 6 children (18.8%) were strong positive, and 3 children (9.4%) were weak positive. All children tested positive on the first swab, while 32 (59.3%) remained positive and 22 (40.7%) became negative on the second swab. Most children showed decreased infection severity, although some remained positive.
Peroxisome Proliferator-Activated Receptor Gamma (PPARG2) rs3856806 Gene Polymorphism as a Risk Factor for Type 2 Diabetes Mellitus Fauzaan Azhar Rizqulloh; Donny Nauphar; Tiar Masykuroh Pratamawati
GHMJ (Global Health Management Journal) Vol. 9 No. 2 (2026)
Publisher : Yayasan Aliansi Cendekiawan Indonesia Thailand (Indonesian Scholars' Alliance)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.35898/ghmj-921320

Abstract

Background: Diabetes Mellitus (DM) is a long-term metabolic illness brought on by either insufficient or inefficient insulin production by the pancreas. Worldwide, 537 million adults between the ages of 20 and 79 are thought to have DM. Genetics is one of the risk factors involved in the pathophysiology of type 2 DM. The gene encodes PPARG2 protein, a group of proteins that are part of the core receptor in carbohydrate and lipid metabolism. Among the two isoforms, PPARG2 is specific to adipose tissue and plays an important role in adipogenesis and mediating insulin sensitivity. Aims: This study aims to examine the PPARG2 rs3856806 gene polymorphism as a risk factor for the occurrence of type 2 diabetes mellitus in the Cirebon population. Methods: This case-control study involved 30 cases of type 2 DM and 30 healthy controls. Data were obtained with blood sugar level test, DNA extraction, and PCR-RFLP with Eco72I restriction enzyme, followed by visualization of results using gel electrophoresis. Results: The C Allele frequency was higher in the case group (76.6%) while the T Allele frequency was higher in the control group (56.6%). The CT heterozygote genotype frequency was more common in the control group (86.7%) and the TT homozygous mutant genotype frequency was higher in the case group (3%) compared to the control group (0%). The results of the Chi-Square Test obtained a p-value of 0.001 with an OR value of 0.118 (CI95%=0.033-0.422). Conclusion: The PPARG2 rs3856806 polymorphism was significantly associated with lower odds of type 2 diabetes mellitus in the population of Cirebon, Indonesia, when analyzed under a dominant genetic model comparing T-allele carriers (CT + TT) to non-carriers (CC).
The Relationship between the TCF7L2 rs7903146 Gene Polymorphism and Anthropometric Parameters and Muscle Mass among Patients with Type 2 Diabetes Mellitus at Puskesmas Waruroyom, Cirebon Muhammad Ajmalunnas; Yuni Susanti Pratiwi; Tiar Masykuroh Pratamawati; Donny Nauphar; Edhyana Sahiratmadja; Leonardo Lubis
Journal of Epidemiology and Public Health Vol. 11 No. 2 (2026)
Publisher : Masters Program in Public Health

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.26911/jepublichealth.2026.11.02.05

Abstract

Background: Polymorphism of the TCF7L2 gene (rs7903146) is involved in glucose homeostasis and has been strongly associated with type 2 diabetes mellitus (T2DM). However, its relationship with anthropometric characteristics, particularly by glycemic control status, remains unclear. Subjects and Method: This cross-sectional study included 75 patients with type 2 diabetes mellitus (T2DM) in the working area of Puskesmas Waruroyom, Cirebon. The target population comprised all registered T2DM patients, and total sampling was applied through screening. Subjects were classified into controlled (n = 37; 49.3%) and uncontrolled (n = 38; 50.7%) groups based on glycemic status. TCF7L2 rs7903146 genotypes (CC, CT, TT) were identified, and anthro­pometric parameters (height, body weight, BMI, waist circumference, and muscle mass) were analyzed using chi-square or Fisher’s exact tests, with additional analyses for continuous variables. Results: The most frequent genotype was CT (69.3%), followed by TT (25.3%) and CC (5.3%). No significant differences were observed in anthropometric parameters across TCF7L2 rs7903146 genotypes in both controlled and uncontrolled groups, including BMI (p= 0.580 and p= 0.830), waist circumference (p= 1.000 and p= 0.760), and muscle mass (p= 1.000 and p= 0.420), respectively. Conclusion: The TCF7L2 rs7903146 polymorphism was not associated with anthropometric profiles among patients with T2DM, regardless of glycemic control status. This suggests that the influence of TCF7L2 is more strongly related to metabolic regulation through insulin signaling pathways rather than to determinants of body composition.
Polimorfisme Gen ACTN3 Pada Performa Fast Twitch Muscle Atlet Basket Dan Futsal Fakultas Kedokteran Universitas Swadaya Gunung Jati Ferdian Muhammad Rafsandani; Donny Nauphar; Widiyatmiko Arifin Putro
KOLONI Vol. 5 No. 3 (2026): SEPTEMBER 2026
Publisher : Universitas Pahlawan Tuanku Tambusai

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.31004/koloni.v5i3.1468

Abstract

Fast-twitch muscle performance is an important component in sports requiring strength, speed, and explosive power over a short period, including basketball and futsal. In addition to training, nutrition, and physical condition, genetic variation may contribute to differences in skeletal muscle capacity. One of the most extensively studied genes is ACTN3, which encodes α-actinin-3, a structural protein predominantly expressed in type II muscle fibers. The R577X polymorphism of the ACTN3 gene results in variation in α-actinin-3 expression and has been associated with differences in explosive muscle performance. This study aimed to analyze differences in fast-twitch muscle performance according to ACTN3 gene polymorphism among basketball and futsal athletes at the Faculty of Medicine, Swadaya Gunung Jati University.This analytical observational study used a cross-sectional design involving 26 athletes selected through total sampling. ACTN3 polymorphism was identified through DNA extraction, polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) using the DdeI restriction enzyme, followed by gel electrophoresis. Fast-twitch muscle performance was assessed using a 30-meter sprint test, vertical jump test, and one-repetition maximum (1RM) tests for leg extension, leg curl, hip abduction, and hip adduction. Data were analyzed using the Shapiro–Wilk and Kruskal–Wallis tests.The RX genotype was identified in 14 athletes (53.8%), whereas the XX genotype was found in 12 athletes (46.2%); no RR genotype was detected. The RX group demonstrated higher mean performance values across all fast-twitch muscle tests than the XX group; however, none of the differences were statistically significant (p>0.05).The RX genotype showed a tendency toward better fast-twitch muscle performance, although ACTN3 polymorphism was not significantly associated with performance in this study population.
Co-Authors A Fariz Malvi Zamzam Zein Agastya, I Gusti Ngurah Ahmad Fariz Malvi Z Zein Akbarahma, Ikrama Alif Hamzah amanah amanah Amanah Amanah Amanah Amanah Ameliana, Elinda Anak Agung Istri Sri Wiadnyani Andang Adi Fitria Hananto Andi Pancanugraha Andrew John Macnab Annida Maharani Annida P Maharani Ariestya Indah Permata Sari Ary Norsaputra Baihaqi, Muhammad Irsyad Canggih Puspo Wibowo Catur Setiya Sulistiyana Destiwi, Monita Diary, Dwina Gustia Dimas Sondang Dimas Sondang Irawan Doni Marisi Sinaga Doni Marisi Sinaga, Doni Marisi Dwina Gustia Diary Dyah Anantalia Widyastari Dyah Anantalia Widyastari Edhyana Sahiratmadja Eka Ayuningtyas Elinda Ameliana Elinda Ameliana Eni Suhaeni Fattah, Rifqi Abdul Fauzaan Azhar Rizqulloh Fauzah, Shofa Nur Fauziah, Sri Utami Febrian Hendra Kurniawan Ferdian Muhammad Rafsandani Galih Albarra Shidiq Galih Albarra Shidiq Gara Samara Brajadenta Hadyanto Lim Hafizh Muhammad Noor Hammada, Ronaa Hananto, Andang Adi Fitria Harlianti, Lita Hendry Gunawan, Hendry Henny Erina Saurmauli Ompusunggu Husna, Nazaul I Gusti Ngurah Agastya I Gusti Ngurah Edi Putra Indriani Silvia Ivana Aprilia Pratiwi Jamhari Jamhari Juwita -, Juwita Kurniawan, Febrian Hendra Kuswara, Hasna Nurazizah Leonardo Lubis Lita Harlianti Lita Harlianti Macnab, Andrew John Made Dian Shanti Kusuma Maharani, Annida Mahendrawan Nugraha Aji Pratama Maretalinia Maretalinia Maretalinia Maretalinia, Maretalinia Marina Ayu Viniriani Maryam, Ruri Eka Moehas, Puput Kusumawardani Monita Destiwi Muhammad Ajmalunnas Muhammad Irsyad Baihaqi Muhammad Irsyad Baihaqi Ni Wayan Kesari Dharmapatni Noor, Hafizh Muhammad Norsaputra, Ary Oktaviyati, Nurfithria Ompusunggu, Henny E.S. Pamuko Aditya Rahman Pancanugraha, Andi Pardede, Sumondang M. Pichpisith Pierre Vejvisithsakul Pradana, Muhammad Firyal Pratama, Mahendrawan Nugraha Aji Pratamawati, Tiar M Pratamawati, Tiar Masykuroh Pratiwi, Ivana Aprilia Puput Kusumawardani Moehas Putra, I Gusti Ngurah Edi Putra, Wahyu Manggala Putri, Annisa Septiani Putri Rahman, Pamuko Aditya Rama S Brajawikalpa Ricky Alexander Samosir Rifqi Abdul Fattah Risnandya Primanagara Ronaa Hammada Ronaa Hammada Ruri Eka Maryam Ruri Eka Maryam Mulyaningsih Sadji, Angel Angriani Elma Budai Samosir, Ricky Alexander Satrianugraha, Muhammad Duddy Sayyidah Vina Syauqia Sayyidah Vina Syauqia Shofa Nur Fauzah Shofa Nur Fauzah Sri Utami Fauziah Sri Utami Fauziah Syauqia, Sayyidah Vina Tiar M Pratamawati Tiar Masykuroh Pratamawati Tiar Masykuroh Pratamawati Tiar Masykuroh Pratamawati Tiara Fatmarizka Uswatun Khasanah Vejvisithsakul, Pichpisith Pierre Viniriani, Marina Ayu Wahyu Manggala Putra Warih Kuncoro Mukti Wibowo, Canggih Puspo Widiyatmiko Arifin Putro Witri Pratiwi Witri Pratiwi Yahwardiah Siregar Yuni Susanti Pratiwi Yuny Hafitry Zein, A Fariz Malvi Zamzam Zein, Ahmad Fariz Malvi Zam Zam