通过基因组结构方程模型阐明人类肌肉骨骼系统衰老的遗传基础。

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-05-14 DOI:10.1111/cge.14766

Hao Xiong, Pan Shen, Qinghua Luo, Leichang Zhang, Bo Li, Zhaohui Ding, Lihua Wang

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引用次数: 0

摘要

与人类肌肉骨骼系统衰老（MSA）相关的遗传结构潜在特征在很大程度上仍未被探索。在这项研究中，我们利用基因组结构方程模型（Genomic Structural Equation Modeling，简称SEM）对MSA进行了大规模的多变量全基因组关联研究（GWAS）。我们估计了与独立变异相关的因果单核苷酸多态性（snp），并确定了14个全基因组显著位点(平均。Pp > 0.95)。我们采用多种转录组关联方法分析组织、细胞水平和基因组元件，鉴定出与MSA易感性高度相关的位点，以及相关元件信息。我们的研究通过未测量表型的GWAS首次全面描述了肌肉骨骼系统衰老的遗传结构。

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Elucidating the Genetic Underpinnings of Human Musculoskeletal System Aging Through Genomic Structural Equation Modeling.

The genetic architecture underlying traits related to Human Musculoskeletal System Aging (MSA) remains largely unexplored. In this study, we conducted a large-scale multivariate genome-wide association study (GWAS) of MSA utilizing Genomic Structural Equation Modeling (Genomic SEM). We estimated causal single nucleotide polymorphisms (SNPs) associated with independent variation and identified 14 genome-wide significant loci (mean.PP > 0.95). We employed multiple transcriptome-wide association methods to analyze tissue, cellular levels, and genomic elements, identifying loci with high relevance to MSA susceptibility, along with associated element information. Our research represents the first comprehensive delineation of the genetic architecture of Musculoskeletal System Aging through a GWAS of unmeasured phenotype.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease