Identification of New Genes and Loci Associated With Bone Mineral Density Based on Mendelian Randomization
| Autor: | Fupeng Ding, Yijun Liu, Guang Jin, Ying Dong, Xue Wang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Bone mineral
Genetics musculoskeletal diseases musculoskeletal neural and ocular physiology Single-nucleotide polymorphism Genome-wide association study disease susceptibility Biology SMR QH426-470 musculoskeletal system eQTL causative gene BMD Mendelian randomization Expression quantitative trait loci Trait GWAS Molecular Medicine Gene Genetics (clinical) Genetic association Original Research |
| Zdroj: | Frontiers in Genetics, Vol 12 (2021) Frontiers in Genetics |
| ISSN: | 1664-8021 |
| DOI: | 10.3389/fgene.2021.728563 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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