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Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk
by
Zhu, Ying
, Li, Zhen
, Cai, Yimin
, Tian, Jianbo
, Ma, Qianying
, Chen, Jun
, Ning, Caibo
, Miao, Xiaoping
, Yang, Yang
, Tian, Shuangshuang
, Wu, Zuyou
, Li, Jiali
, Chu, Qian
, Cao, Zilong
, Xia, Shuting
, Peng, Jingyi
, He, Chunyi
, Li, Yanmin
in
38/43
/ 59/57
/ 631/208/205/2138
/ 631/443/63
/ 692/308/2056
/ 692/499
/ Adipose tissue
/ Adipose Tissue - diagnostic imaging
/ Adipose Tissue - metabolism
/ Adipose Tissue - pathology
/ Aged
/ Algorithms
/ Body fat
/ Body mass index
/ Bone marrow
/ Bone Marrow - diagnostic imaging
/ Bone Marrow - metabolism
/ Bone Marrow - pathology
/ Bone remodeling
/ Deep Learning
/ Ethnicity
/ Female
/ Femur
/ Femur - diagnostic imaging
/ Genes
/ Genetic factors
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Hematopoiesis
/ Hemopoiesis
/ Humanities and Social Sciences
/ Humans
/ Machine learning
/ Magnetic Resonance Imaging
/ Male
/ Mendelian Randomization Analysis
/ Middle Aged
/ multidisciplinary
/ Multifactorial Inheritance
/ Osteoporosis
/ Osteoporosis - diagnostic imaging
/ Osteoporosis - genetics
/ Performance evaluation
/ Polymorphism, Single Nucleotide
/ Risk
/ Risk Factors
/ Science
/ Science (multidisciplinary)
/ Vertebrae
2025
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Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk
by
Zhu, Ying
, Li, Zhen
, Cai, Yimin
, Tian, Jianbo
, Ma, Qianying
, Chen, Jun
, Ning, Caibo
, Miao, Xiaoping
, Yang, Yang
, Tian, Shuangshuang
, Wu, Zuyou
, Li, Jiali
, Chu, Qian
, Cao, Zilong
, Xia, Shuting
, Peng, Jingyi
, He, Chunyi
, Li, Yanmin
in
38/43
/ 59/57
/ 631/208/205/2138
/ 631/443/63
/ 692/308/2056
/ 692/499
/ Adipose tissue
/ Adipose Tissue - diagnostic imaging
/ Adipose Tissue - metabolism
/ Adipose Tissue - pathology
/ Aged
/ Algorithms
/ Body fat
/ Body mass index
/ Bone marrow
/ Bone Marrow - diagnostic imaging
/ Bone Marrow - metabolism
/ Bone Marrow - pathology
/ Bone remodeling
/ Deep Learning
/ Ethnicity
/ Female
/ Femur
/ Femur - diagnostic imaging
/ Genes
/ Genetic factors
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Hematopoiesis
/ Hemopoiesis
/ Humanities and Social Sciences
/ Humans
/ Machine learning
/ Magnetic Resonance Imaging
/ Male
/ Mendelian Randomization Analysis
/ Middle Aged
/ multidisciplinary
/ Multifactorial Inheritance
/ Osteoporosis
/ Osteoporosis - diagnostic imaging
/ Osteoporosis - genetics
/ Performance evaluation
/ Polymorphism, Single Nucleotide
/ Risk
/ Risk Factors
/ Science
/ Science (multidisciplinary)
/ Vertebrae
2025
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Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk
by
Zhu, Ying
, Li, Zhen
, Cai, Yimin
, Tian, Jianbo
, Ma, Qianying
, Chen, Jun
, Ning, Caibo
, Miao, Xiaoping
, Yang, Yang
, Tian, Shuangshuang
, Wu, Zuyou
, Li, Jiali
, Chu, Qian
, Cao, Zilong
, Xia, Shuting
, Peng, Jingyi
, He, Chunyi
, Li, Yanmin
in
38/43
/ 59/57
/ 631/208/205/2138
/ 631/443/63
/ 692/308/2056
/ 692/499
/ Adipose tissue
/ Adipose Tissue - diagnostic imaging
/ Adipose Tissue - metabolism
/ Adipose Tissue - pathology
/ Aged
/ Algorithms
/ Body fat
/ Body mass index
/ Bone marrow
/ Bone Marrow - diagnostic imaging
/ Bone Marrow - metabolism
/ Bone Marrow - pathology
/ Bone remodeling
/ Deep Learning
/ Ethnicity
/ Female
/ Femur
/ Femur - diagnostic imaging
/ Genes
/ Genetic factors
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Hematopoiesis
/ Hemopoiesis
/ Humanities and Social Sciences
/ Humans
/ Machine learning
/ Magnetic Resonance Imaging
/ Male
/ Mendelian Randomization Analysis
/ Middle Aged
/ multidisciplinary
/ Multifactorial Inheritance
/ Osteoporosis
/ Osteoporosis - diagnostic imaging
/ Osteoporosis - genetics
/ Performance evaluation
/ Polymorphism, Single Nucleotide
/ Risk
/ Risk Factors
/ Science
/ Science (multidisciplinary)
/ Vertebrae
2025
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Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk
Journal Article
Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk
2025
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Overview
Bone marrow adipose tissue, as a distinct adipose subtype, has been implicated in the pathophysiology of skeletal, metabolic, and hematopoietic disorders. To identify its underlying genetic factors, we utilized a deep learning algorithm capable of quantifying bone marrow fat fraction (BMFF) in the vertebrae and proximal femur using magnetic resonance imaging data of over 38,000 UK Biobank participants. Genome-wide association analyses uncovered 373 significant BMFF-associated variants (
P
-value < 5 × 10
−9
), with enrichment in bone remodeling, metabolism, and hematopoiesis pathway. Furthermore, genetic correlation highlighted a significant association between BMFF and skeletal disease. In about 300,000 individuals, polygenic risk scores derived from three proximal femur BMFF were significantly associated with increased osteoporosis risk. Notably, Mendelian randomization analyses revealed a causal link between proximal femur BMFF and osteoporosis. Here, we show critical insights into the genetic determinants of BMFF and offer perspectives on the biological mechanisms driving osteoporosis development.
Bone marrow adipose tissue is linked to skeletal and metabolic health. Here, the authors use deep learning and GWAS to identify genetic determinants of bone marrow fat and reveal a causal link between femoral fat content and osteoporosis risk.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 59/57
/ 692/499
/ Adipose Tissue - diagnostic imaging
/ Aged
/ Body fat
/ Bone Marrow - diagnostic imaging
/ Female
/ Femur
/ Genes
/ Genetic Predisposition to Disease
/ Genome-Wide Association Study
/ Genomes
/ Humanities and Social Sciences
/ Humans
/ Male
/ Mendelian Randomization Analysis
/ Osteoporosis - diagnostic imaging
/ Polymorphism, Single Nucleotide
/ Risk
/ Science
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