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Haplotype analysis of VDR gene polymorphisms: a meta-analysis
Ammarin Thakkinstian1, Catherine D'Este, John Attia
1Clinical Epidemiology Unit, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Rama 6 Rd, 10400, Bangkok, Thailand. raatk@mahidol.ac.th
Summary
Haplotype analysis of vitamin D receptor (VDR) gene polymorphisms reveals significant associations with osteoporosis and bone mineral density (BMD), outperforming individual polymorphism analysis. This approach enhances understanding of VDR
Area of Science:
- Genetics
- Molecular Biology
- Bone Biology
Background:
- Numerous studies examine individual vitamin D receptor (VDR) gene polymorphisms and bone health.
- Few studies have analyzed VDR polymorphism data using haplotype analysis.
- This meta-analysis focuses on BsmI, ApaI, and TaqI VDR polymorphisms.
Purpose of the Study:
- Estimate VDR gene haplotype frequencies.
- Determine linkage disequilibrium (LD) among VDR polymorphisms.
- Assess the association between VDR haplotypes and osteoporosis/bone mineral density (BMD).
Main Methods:
- Haplotypes inferred using the expectation-maximization (EM) algorithm.
- Log-linear models used for osteoporosis association analysis.
- Variance component regression analysis applied for BMD association analysis.
Main Results:
- The most common VDR haplotype is baT, followed by BAt and bAT (Caucasians), and bAT and BaT (Asians).
- Strong linkage disequilibrium (LD) observed between BsmI and TaqI polymorphisms.
- Haplotypes Bat and BAt showed significant association with osteoporosis (OR ≈ 4), unlike individual polymorphisms.
Conclusions:
- Haplotype analysis provides a powerful approach for studying VDR polymorphisms and bone health.
- Highlights the importance of considering LD and methodological aspects in genetic association studies.
- Demonstrates increased statistical power by analyzing VDR gene haplotypes over individual variants.