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All Journal Pharmaciana: Jurnal Kefarmasian Media Farmasi : Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science) Jurnal Farmasi Klinik Indonesia Pharmascience Biomedical Journal of Indonesia Jurnal Ilmiah Ibnu Sina (JIIS): Ilmu Farmasi dan Kesehatan Majalah Farmasi dan Farmakologi (Trends in Pharmacy and Pharmaceutical Sciences) Jurnal Ulul Albab SELAPARANG: Jurnal Pengabdian Masyarakat Berkemajuan Lumbung Farmasi : Jurnal Ilmu Kefarmasian Narra J Jurnal Ilmiah Ibnu Sina (JIIS): Ilmu Farmasi dan Kesehatan Medical Sains : Jurnal Ilmiah Kefarmasian Media Farmasi Indonesia Borneo Journal of Pharmacy Medical Sains : Jurnal Ilmiah Kefarmasian
Wirawan Adikusuma
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Agriculture, Biological Sciences & Forestry Humanities Biochemistry, Genetics & Molecular Biology Chemistry Computer Science & IT Control & Systems Engineering Economics, Econometrics & Finance Education Engineering Environmental Science Health Professions Immunology & microbiology Languange, Linguistic, Communication & Media Law, Crime, Criminology & Criminal Justice Materials Science & Nanotechnology Medicine & Pharmacology Nursing Public Health Social Sciences Other

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Journal : Biomedical Journal of Indonesia

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Identifying Gene Variants That Are Pathogenic In Osteoporosis Using An Omics Data And Bioinformatics Approach Danang Prasetyaning Amukti; Lalu Muhammad Irham; Ria Indah Pratami; Wirawan Adikusuma
Biomedical Journal of Indonesia Vol. 10 No. 3 (2024): Vol 10, No 3, 2024
Publisher : Fakultas Kedokteran Universitas Sriwijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/bji.v10i3.199

Abstract

Introduction. The biological cause of osteoporosis, a metabolic bone disease, is osteoclastic bone resorption that is not offset by osteoblastic bone synthesis. Fractures become more likely as a result of the bones being brittle and weak. Common genetic variants that indicate hereditary susceptibility factors to osteoporosis in the general population, as well as mutations affecting specific genes that cause uncommon monogenic causes of osteoporosis, are the two main types of osteoporosis. Bone defects can now be caused by numerous additional genes. In this study, we aimed to identify variants of this pathogen across continents using genome-based and bioinformatics methodologies. Methods. We integrated osteoporosis-associated variants into this study using various bioinformatics-based techniques by using GWAS data from the National Human Genome Research Institute (NHGRI). Results. We found that the variant rs3742909 is likely to cause osteoporosis. SMOC1 gene expression in whole blood tissue also appears to be affected by this variant. We found that this genomic variant requires additional research to validate functional and clinical studies in patients with osteoporosis. Conclusions. We suggest that better understanding of disease susceptibility, including osteoporosis, can be achieved through the merging of genome-based databases and bioinformatics. Our goal is to validate the findings of this study both in vitro and in vivo during the preclinical stage.
Co-Authors Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Abdi Wira Septama Adi Wira Septama Adrian A. Kaptein Afief, Arief R. Afief, Arief Rahman Ageng Brahmadhi Anak Agung Gede Sugianthara Ananda, Dwi Rizki Anisa Devi Kharisma Wibowo Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anita Silas La’ah Anna Pradiningsih Anna Pradiningsih Annisa Abdi Ghifari Arfianti Arfianti Arief Rahman Afief Arief Rahman Afief Arief Rahman Afief Asamuni, GJ Rahma Dewi Auren Nathania Ayu Fatmala Ayu Lifia Nur Kartikasari Baiq Leny Nopitasari Baiq Lenysia Puspita Anjani Baiq Nurbaety Barkah Djaka Purwanto Barkah Djaka Purwanto Cheung, Rocky Chong, Rockie Cyntiya Rahmawati Danang Prasetyaning Amukti Darmawi Darmawi . Darmawi Darmawi Donel S Dyah A. Perwitasari Dyah Aryani Perwitasari Eko Mugiyanto Eko Satria Putra Firdayani Firdayani Firdayani Firdayani, Firdayani Firman Firman Fita Yuliana Furqani, Nur Gina Noor Djalilah GJ Rahma Dewi Asamuni Haafizah Dania Haafizah Dania Haafizah Dania Hamidy, Muhammad Y. Henry Budiawan Prasetya Herjanti Ratnawiningsih Imaniar Noor Faridah Imaniar Noor Faridah Indri Istiqomah Irham, Lalu M. Irmatika Hendriyani Kartikasari, Ayu Lifia Nur Kemal, Rahmat A. Khair, Riat Khairi, Sabiah La Malihi Lalu Muhammad Irham La’ah, Anita Silas Leina Putri Zahra Lisza Niarisessa Made Ary Sarasmita Maliza, Rita MARIA BINTANG Maulida Mazaya Maya Savira Ma’ruf, Muhammad Medi Sushanti, Nining Melodia Rezadhini Melodia Rezadhini Moch. Saiful Bachri Muhammad Yulis Hamidy Nanik Sulistyani Nathania, Auren Ni Made Ary Sarasmita Nining Medi Sushanti Nining Medi Sushanti Nopitasari, Baiq Leny Nugraha, Media Fitri Isma Isma Nur Furqani Nurfi Pratiwi, Nurfi NURUL AZIZAH Nurul Hidayatullah Nurul Qiyaam, Nurul Pendicho Eko Yuliyanto Pranata, Satria Purwanto, Barkah Djaka Puspita Anjani, Baiq Lenysia Puspita Puspitaningrum, Anisa Nova Putu Gede Suriya Gunawan Rachmadina, Rachmadina Rahmat Dani Satria Rahmawati, Cyntiya Rangkuti, Ina F. Razali, Renardy Reza Renardy Reza Razali Rezadhini, Melodia Ria Indah Pratami Riat El Khair Riat Khair Rihhadatul Aisy Risma Widia Ningsih Rockie Chong Rocky Cheung Rocky Cheung Rocky Cheung S, Donel Safwan Safwan Safwan Safwan Santri, Ichtiarini Nurullita Satria, Rahmat Dani Shoma Rikifani Sierly, Nadia Siswanto, Lalu Muhammad Harmain Soraya Soraya Suhandri, Wiwin Tien Partini Tri Murti Andayani Ulfah, Aida J. Uswaton Hasanah Wibowo, Anisa Devi Kharisma Winarto Winarto Winarto Winarto Wiwin Suhandri Wiwit Ade Fidiawati Wiwit Ade Fidiawati Woro Supadmi Woro Supadmi Yudha Rizky Nuari Zahra, Leina Putri Zainul Amiruddin Zakaria Zakaria, Zainul Amiruddin