Original Article

Osteoporosis International

, Volume 21, Issue 8, pp 1351-1360

Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans

  • H.-J. LeeAffiliated withThe Center for Genome Science, National Institute of HealthThe Center for Biomedical Sciences, National Institute of Health
  • , S.-Y. KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDepartment of Orthopedic Surgery, Kyungpook National University School of Medicine
  • , G. S. KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center
  • , J.-Y. HwangAffiliated withThe Center for Genome Science, National Institute of Health
  • , Y.-J. KimAffiliated withThe Center for Genome Science, National Institute of Health
  • , B. JeongAffiliated withThe Center for Genome Science, National Institute of Health
  • , T.-H. KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDepartment of Pathology and Regenerative Medicine, School of Dentistry, Kyungpook National University
  • , E. K. ParkAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDepartment of Pathology and Regenerative Medicine, School of Dentistry, Kyungpook National University
  • , S. H. LeeAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center
    • , H.-L. KimAffiliated withThe Center for Genome Science, National Institute of Health
    • , J.-M. KohAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center Email author 
    • , J.-Y. LeeAffiliated withThe Center for Genome Science, National Institute of Health Email author 

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Abstract

Summary

In a candidate gene association study, we found that the variations of calcitonin receptor (CALCR) gene were related to the risk of vertebral fracture and increased bone mineral density (BMD).

Introduction

Calcitonins through calcitonin receptors inhibit osteoclast-mediated bone resorption and modulate calcium ion excretion by the kidney and also prevent vertebral bone loss in early menopause.

Methods

To identify genetically susceptible factors of osteoporosis, we discovered the variations in CALCR gene, genotyped in Korean postmenopausal women (n = 729), and examined the potential involvement of seven single-nucleotide polymorphism (SNPs) and their haplotypes in linkage disequilibrium block (BL_hts).

Results

The SNPs, +43147G > C (intron 7), +60644C > T (exon13, 3' untranslated region), and their haplotypes, BL2_ht1 and BL2_ht2, showed a significant association with risk of vertebral fracture (p = 0.048–0.004) and BL2_ht1 showed a highly significant protective effect. Moreover, the polymorphism +60644C > T showed a highly significant association with BMD at both lumbar spine and femoral neck. The subjects carrying CC and CT genotypes with the SNP, +60644C > T, had higher BMD values at the lumbar spine (p = 0.01–0.001) and femoral neck (p = 0.025–0.009).

Conclusion

These results indicate that the CALCR gene may regulate bone metabolism, and +60644C > T in the CALCR gene may genetically modulate bone phenotype.

Keywords

Bone mineral density CALCR Fracture SNP Postmenopause