基础研究

从头部 MRI 估计骨髓脂肪含量并解析其遗传架构

来源:eLife · PMID 42979948 · DOI 10.7554/eLife.101499 · 来源:IMA 知识库《文献层·文献监控卡片》2026-11-05 期 · 全文级(file_id dAlZBwueyWSz,实际下载核验 1,395,640 B) · 全文已获取并通过三重归属校验

时间标签:数据日期 2026-11-05 · 生成时间 2026-11-05 05:30(Asia/Shanghai)| 检索窗口 PubMed edat 2026/11/02 – 2026/11/06 | 情报发生日期 2026-11-05

研究问题

Third, determining whether the composition of calvarial BM, which envelops the neocortex and has direct channels to it, has detectable effects on the brain.;Finally, we investigated the genetic overlap between BMA and twelve brain and body traits.

方法

We developed an artificial neural network that localises calvarial bone marrow in T1-weighted MRI head scans, enabling us to study its composition in several large MRI datasets, and to model sex-dimorphic age trajectories, including the effect of menopause.;We revealed high heritability in single-nucleotide polymorphism and twin data, and identified 41 genetic loci significantly associated with the trait, including six sex-specific loci.;Integrating mapped genes with existing bone marrow single-cell RNA-sequencing data revealed patterns of adipogenic lineage differentiation and lipid loading.

核心结论

Further, using the data on the same-sex MZ and DZ twin pairs, we showed that BMA has an estimated broad-sense heritability of 91% in males and 60% in females (Table S1).;Our regression results suggest that most of the effect of HRT on BMD is mediated by its effect on BMA (Table S2) since: 1. the statistical significance of HRT as an explanatory variable for BMD disappears when BMA is included as an explanatory variable in the regression and 2. the R2 of the regression increases by a factor of 4 to 30%.;We found the male and female GWASs to have low genomic inflation (Figure 3A and Table S4) and to be significantly genetically correlated (Rg=.94, P=6e-27, Figure 3B ), allowing us to combine these samples to perform a joint discovery GWAS across males and females (n=33,042).

局限

However, this did not result in a corresponding fall in the ratio of the predicted intensity of BM to its true intensity, because the typical BM intensity was only marginally higher than the neighbouring bone intensity.

对本项目的价值

中等价值:属「脑老化与神经退行」方向;脑老化 / 神经退行 / 认知栏目可用作本项目文献库与综述素材。 | 价值分 2.8/5(★★★☆☆)

全文来源

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原文题录

  • 中文题名:从头部 MRI 估计骨髓脂肪含量并解析其遗传架构
  • 英文标题:Estimating bone marrow adiposity from head MRI and identifying its genetic architecture.
  • 期刊与标识:eLife · PMID 42979948 · DOI 10.7554/eLife.101499

B 级证据分级:B 级(同行评议临床前研究,主要为动物模型)

本文核心结论来自动物模型或体外细胞学,属临床前证据,不能外推至人体。「延长健康寿命」「改善功能」等表述在小鼠中的意义,与人类临床结局之间仍有距离。

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