scholarly journals Multiple analyses of large-scale genome-wide association study highlight new risk pathways in lumbar spine bone mineral density

Oncotarget ◽  
2016 ◽  
Vol 7 (21) ◽  
pp. 31429-31439 ◽  
Author(s):  
Jinsong Wei ◽  
Ming Li ◽  
Feng Gao ◽  
Rong Zeng ◽  
Guiyou Liu ◽  
...  
animal ◽  
2020 ◽  
Vol 14 (12) ◽  
pp. 2443-2451
Author(s):  
B. Jiang ◽  
M. Wang ◽  
Z. Tang ◽  
X. Du ◽  
S. Feng ◽  
...  

2021 ◽  
Author(s):  
Yu-Qian Song ◽  
Shi-Di Hu ◽  
Xu Lin ◽  
Xiang-He Meng ◽  
Xiao Wang ◽  
...  

Abstract An increasing number of epidemiological studies have suggested that birth weight (BW) may be a determinant of bone health later in life, although the underlying genetic mechanism remains unclear. Here, we applied a pleiotropic conditional false discovery rate (cFDR) approach to the genome-wide association study (GWAS) summary statistics for lumbar spine bone mineral density (LS BMD) and BW, aiming to identify novel susceptibility variants shared between these two traits. We detected 5 novel potential pleiotropic loci which are located at or near 7 different genes (NTAN1, PDXDC1, CACNA1G, JAG1, FAT1P1, CCDC170, ESR1), among which PDXDC1 and FAT1P1 have not previously been linked to these phenotypes. To partially validate the findings, we demonstrated that the expression of PDXDC1 was dramatically reduced in ovariectomized (OVX) mice in comparison with sham-operated (SHAM) mice in both the growth plate and trabecula bone. Furthermore, immunohistochemistry assay with serial sections showed that both osteoclasts and osteoblasts express PDXDC1, supporting its potential role in bone metabolism. In conclusion, our study provides insights into some shared genetic mechanisms for BMD and BW as well as a novel potential therapeutic target for the prevention of OP in the early stages of the disease development.


2018 ◽  
Vol 82 (5) ◽  
pp. 244-253 ◽  
Author(s):  
Qin Zeng ◽  
Ke-Hao Wu ◽  
Kun Liu ◽  
Yuan Hu ◽  
Xiang-Ding Chen ◽  
...  

BMC Genomics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Benjamin H. Mullin ◽  
John P. Walsh ◽  
Hou-Feng Zheng ◽  
Suzanne J. Brown ◽  
Gabriela L. Surdulescu ◽  
...  

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