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Outline
To investigate the genetic association between birth weight (BW) and estimated bone mineral density (eBMD) in adults, and to explore their shared genetic mechanisms and potential public health implications for osteoporosis prevention.
Using large-scale genome-wide association study (GWAS) summary data from the UK Biobank and the EGG Consortium, we systematically analyzed the genetic correlation, pleiotropic loci, and causal relationship between BW and eBMD through linkage disequilibrium score regression (LDSC), local genetic correlation analysis (SUPERGNOVA), cross-trait meta-analysis (CPASSOC), and two-sample Mendelian randomization (MR).
A significant negative genome-wide genetic correlation was observed between BW and eBMD (rg=-0.052 5,P=0.021 1). MR analysis revealed a negative causal association between BW and eBMD(β=-0.081,P=3.48×10-3).
The inverse causal association between BW and eBMD supports the Developmental Origins of Health and Disease (DOHaD) hypothesis, indicating that intrauterine development may regulate adult bone metabolism through pleiotropic genes (e.g., SNX10, RAC1). These findings highlight the importance of early-life interventions for osteoporosis prevention.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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