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Identification of New Genes and Loci Associated With Bone Mineral Density Based on Mendelian Randomization
Abstract
Bone mineral density (BMD) is a complex and highly hereditary trait that can lead to osteoporotic fractures. It is estimated that BMD is mainly affected by genetic factors (about 85%). BMD has been reported to be associated with both common and rare variants, and numerous loci related to BMD have been identified by genome-wide association studies (GWAS). We systematically integrated expression quantitative trait loci (eQTL) data with GWAS summary statistical data. We mainly focused on the loci, which can affect gene expression, so Summary data-based Mendelian randomization (SMR) analysis was implemented to investigate new genes and loci associated with BMD. We identified 12,477 single-nucleotide polymorphisms (SNPs) regulating 564 genes, which are associated with BMD. The genetic mechanism we detected could make a contribution in the density of BMD in individuals and play an important role in understanding the pathophysiology of cataclasis.
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“Bone mineralization is also determined by genetic conditions10, ethnicity11, the occurrence of other diseases affecting the development of osteoporosis12, age, somatic and body composition, and the sex of the individual13.”
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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
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Kim, S. K. (2018) · PLOS ONE · doi:10.1371/journal.pone.0200785 · Cited by 185
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Cited by
Tang, A. S., Rankin, K. P., Cerono, G., Miramontes, S., Mills, H., Roger, J., Zeng, B., Nelson, C., Soman, K., Woldemariam, S., et al. (2024) · Nature Aging · doi:10.1038/s43587-024-00573-8 · Cited by 86
Kopiczko, A., Bałdyka, J., Adamczyk, J. G., Nyrć, M., & Gryko, K. (2025) · Scientific Reports · doi:10.1038/s41598-025-93891-9 · Cited by 6
Metadata
- Authors
- Liu, Y., Jin, G., Wang, X., Dong, Y., & Ding, F.
- Venue
- Frontiers in Genetics
- Publisher
- Frontiers Media SA
- Published
- 2021-09-08
- Volume
- 12
- ISSN
- 1664-8021
- Cited by
- 6
- References
- 3
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