Pathway-Based Genome-Wide Association Analysis Identified the Importance of Regulation-of-Autophagy Pathway for Ultradistal Radius BMD
2010

Importance of the Regulation-of-Autophagy Pathway for Wrist Bone Mineral Density

Sample size: 984 publication Evidence: high

Author Information

Author(s): Zhang Lishu, Guo Yan-Fang, Liu Yao-Zhong, Liu Yong-Jun, Xiong Dong-Hai, Liu Xiao-Gang, Wang Liang, Yang Tie-Lin, Lei Shu-Feng, Guo Yan, Yan Han, Pei Yu-Fang, Zhang Feng, Papasian Christopher J, Recker Robert R, Deng Hong-Wen

Primary Institution: University of Missouri–Kansas City

Hypothesis

Can the regulation-of-autophagy pathway be linked to variations in wrist bone mineral density?

Conclusion

The regulation-of-autophagy pathway is significantly associated with wrist bone mineral density and may play a role in osteoporosis.

Supporting Evidence

  • The regulation-of-autophagy pathway showed the strongest significant association with wrist bone mineral density.
  • Significant association was confirmed in the Framingham Heart Study sample with 2187 subjects.
  • Pathway-based analysis revealed that individual genes did not reach significance when considered separately.

Takeaway

This study found that a specific pathway in our cells, called the regulation-of-autophagy pathway, is important for understanding wrist bone health and osteoporosis.

Methodology

A pathway-based genome-wide association analysis was performed on 984 unrelated whites, examining approximately 500,000 SNPs to identify biologic pathways associated with wrist bone mineral density.

Limitations

The study may not account for other pathways that could also influence wrist bone mineral density.

Participant Demographics

984 unrelated US whites of European origin, with chronic diseases and conditions affecting bone mass excluded.

Statistical Information

P-Value

0.005

Statistical Significance

p = .005

Digital Object Identifier (DOI)

10.1002/jbmr.36

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