Biomedical Journal of Indonesia
Vol. 10 No. 3 (2024): Vol 10, No 3, 2024

Identifying Gene Variants That Are Pathogenic In Osteoporosis Using An Omics Data And Bioinformatics Approach

Danang Prasetyaning Amukti (Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia)
Lalu Muhammad Irham (Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia)
Ria Indah Pratami (Faculty of Pharmacy, University of Ahmad Dahlan, Yogyakarta, Indonesia)
Wirawan Adikusuma (Department of Pharmacy, University of Muhammadiyah Mataram, Mataram, Indonesia)



Article Info

Publish Date
18 Oct 2024

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.

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Journal Info

Abbrev

bji

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology

Description

Biomedical Journal of Indonesia is an open access, peer-reviewed journal that focus on basic medical sciences, emphasizing on providing the molecular studies of biomedical problems and molecular mechanisms to integrate researches in all aspects of human health. BJI is dedicated to publishing ...