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

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.

• Authors: H-J Lee, S-Y Kim, G S Kim, J-Y Hwang, Y-J Kim, B Jeong, T-H Kim, E K Park, S H Lee, H-L Kim, J-M Koh, J-Y Lee
• Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (Osteoporos Int) Vol. 21 Issue 8 Pg. 1351-60 (Aug 2010) ISSN: 1433-2965 [Electronic] England
• PMID: 19946674 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Receptors, Calcitonin

Topics

• Absorptiometry, Photon
• Adult
• Aged
• Bone Density (genetics)
• Chromosome Mapping
• Female
• Femur Neck (physiopathology)
• Genetic Association Studies (methods)
• Genotype
• Humans
• Linkage Disequilibrium
• Lumbar Vertebrae (physiopathology)
• Middle Aged
• Osteoporosis, Postmenopausal (genetics, physiopathology)
• Osteoporotic Fractures (genetics, physiopathology)
• Phenotype
• Polymorphism, Single Nucleotide
• Receptors, Calcitonin (genetics)
• Spinal Fractures (genetics, physiopathology)