Liu Yijun, Jin Guang, Wang Xue, Dong Ying, Ding Fupeng
Department of Orthopedics, The First Hospital of Jilin University, Changchun, China.
Department of Anesthesiology, The First Hospital of Jilin University, Changchun, China.
Front Genet. 2021 Sep 8;12:728563. doi: 10.3389/fgene.2021.728563. eCollection 2021.
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.
骨密度（BMD）是一种复杂且遗传性很强的性状，可导致骨质疏松性骨折。据估计，BMD主要受遗传因素影响（约85%）。据报道，BMD与常见和罕见变异均有关联，全基因组关联研究（GWAS）已鉴定出许多与BMD相关的基因座。我们系统地整合了表达数量性状基因座（eQTL）数据与GWAS汇总统计数据。我们主要关注那些能够影响基因表达的基因座，因此实施了基于汇总数据的孟德尔随机化（SMR）分析，以研究与BMD相关的新基因和基因座。我们鉴定出12477个调节564个基因的单核苷酸多态性（SNP），这些基因与BMD相关。我们检测到的遗传机制可能对个体的骨密度产生影响，并在理解骨折的病理生理学方面发挥重要作用。
