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Journal : Biomedical Journal of Indonesia

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 Adnan Adnan Afief, Arief Rahman Ageng Brahmadhi Akrom, Akrom Ana Hidayati Anisa Devi Kharisma Wibowo Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anisa Nova Puspitaningrum Anita Silas La’ah Any Guntarti Arief Rahman Afief Arief Rahman Afief Arief Rahman Afief Auren Nathania Ayu Lifia Nur Kartikasari Azzahra, Fara Barkah Djaka Purwanto Barkah Djaka Purwanto Bramadi Arya Cheung, Rocky Chita Widia Chong, Rockie Citra Ariani Edityaningrum, Citra Danang Prasetyaning Amukti Darmawi . Darmawi Darmawi Daud, Intan Delfi Iskardyani Denys Chichi Kusumastuti Didik Setiawan Donel S Dyah Aryani Perwitasari Eko Mugiyanto Faridah, Imaniar Febriana Astuti Firdayani Firdayani Firdayani Firdayani, Firdayani Firman Firman Fitri, Dwiki Fredrick Dermawan Purba Galuh, Tiwi Gina Noor Djalilah Gustinanda, Rizky Haafizah Dania Haafizah Dania Haafizah Dania Handayani, Eka Wuri Hanisari, Putri Henry Budiawan Prasetya Herjanti Ratnawiningsih Herlina, Tetie Ichsan Luqmana Indra Putra, Ichsan Luqmana Indra Ilham Alifiar Ilham alifiar Imaniar Noor Faridah Imaniar Noor Faridah Imaniar Noor Faridah Iwan Santoso, Iwan Kartikasari, Ayu Lifia Nur Khair, Riat Khairi, Sabiah Khairurrizki, Amanda La Malihi Laela Hayu Nurani La’ah, Anita Silas Leina Putri Zahra Lisza Niarisessa Made Ary Sarasmita Maliza, Rita MARIA BINTANG Maulida Mazaya Ma’ruf, Muhammad Medi Sushanti, Nining Melodia Rezadhini Melodia Rezadhini Menit Ardhiani Menit Ardhiani Muh. Deni Kurniawan Muhammad Fathurrahman Muhammad Yusron Maulana El-Yunusi Mutmainnah Siradjuddin Nanik Sulistyani Nathania, Auren Ni Made Ary Sarasmita Nining Medi Sushanti Nining Medi Sushanti Nining Sugihartini Novi Febrianti Nugraha, Media Fitri Isma Isma Nur Ismiyati Nur Rahayuningsih Pendicho Eko Yuliyanto Pradika, Jaka Pranata, Satria Pratama, Kharisma Puriyanto, Riky Dwi Purwanto, Barkah Djaka Puspitaningrum, Anisa Nova Rafiastiana Capritasari Rahmat Dani Satria Razali, Renardy Reza Renardy Reza Razali Rezadhini, Melodia Ria Indah Pratami Riat El Khair Riat Khair Rizka Novia Atmadani Rockie Chong Rocky Cheung Rocky Cheung Rocky Cheung Rudi, Nyoman S, Donel S, Yuni Salamah, Siti Hajar Sany Sapto Yuliani Saputri, Septiana Satria, Rahmat Dani Sianu, Rahman Simanjuntak, LB Siswandi Siswandi, Siswandi Siswanto, Lalu Muhammad Harmain Siti Rofida Siti Urbayatun Solikhah Solikhah, EfA Wakhidatus Sugiyanto - Suhandri, Wiwin Suhendra, Gugun Sulistiyani, Nanik Susan Fitria Candradewi Triantoro Safaria Triantoro Safaria Uswatun Chasanah Wahyu Rahmatulloh Wahyu Widyaningsih Wahyu Widyaningsih Wibowo, Anisa Devi Karisma Wibowo, Anisa Devi Kharisma Widyastuti, Lina Wigka Pawestri, Novianti Winarto Winarto Winarto Winarto Wirawan Adikusuma Wiwin Suhandri Wiwit Ade Fidiawati Wiwit Ade Fidiawati Woro Supadmi Woro Supadmi Wulandari, D Yudha Rizky Nuari Zahra, Leina Putri Zainul Amiruddin Zakaria Zakaria, Zainul Amiruddin Zukhruf Saputri, Ginanjar