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Identification of PIEZO1 polymorphisms for human bone mineral density
Wei-Yang Bai1, Lijun Wang2, Zhi-Min Ying3
1Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, 18 Shilongshan Road, Hangzhou 310024, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, 18 Shilongshan Road, Hangzhou 310024, China.
Bone
|January 23, 2020
Summary
A specific genetic variant (SNP rs62048221) in the PIEZO1 gene is linked to lower bone mineral density (BMD), increasing osteoporosis fracture risk. This finding may help develop new strategies for bone health.
Area of Science:
- Genetics
- Bone Biology
- Osteoporosis Research
Background:
- Bone mineral density (BMD) is crucial for diagnosing and treating osteoporosis, a condition characterized by reduced BMD and increased fracture risk.
- The Piezo1 protein has recently been identified as a mediator of mechanical responses in bone and a participant in bone formation in mice.
Purpose of the Study:
- To investigate the role of PIEZO1 gene single nucleotide polymorphisms (SNPs) in human bone mineral density (BMD).
- To identify specific SNPs associated with BMD variations across different skeletal sites.
Main Methods:
- Cross-phenotype meta-analysis of human BMD data from lumbar spine, femoral neck, distal radius/forearm, and heel.
- Screening of top SNPs for PIEZO1, assessing overlap with regulatory elements (enhancers, DNase-I hypersensitive sites, active promoters).
- Association analysis of SNP rs62048221 with heel BMD in UK Biobank data (n=477,760) and functional assays in human mesenchymal stem cells (hMSCs).
Main Results:
- Fourteen top SNPs for PIEZO1 were identified, overlapping with regulatory regions.
- The best SNP, rs62048221, showed a significant association with decreased heel BMD (ultrasound estimated and UK Biobank data).
- Functional assays confirmed rs62048221's location within an enhancer region of PIEZO1, demonstrating its ability to modulate enhancer activity.
Conclusions:
- SNP rs62048221 is significantly associated with reduced bone mineral density, particularly at the heel.
- This genetic variant may influence PIEZO1 expression by altering the activity of cis-regulatory elements, thereby affecting BMD.
- These findings provide novel insights into the genetic regulation of bone density and potential therapeutic targets for osteoporosis.
