Citation

Lee HJ, Kim SY, Koh JM, Bok J, Kim KJ, Kim KS, Park MH, Shin HD, Park BL, Kim TH, Hong JM, Park EK, Kim DJ, Oh B, Kimm K, Kim GS, Lee JY. Bone 2007; 41(6): 979-986.

Affiliation

Center for Genome Science, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul, 122-701, Republic of Korea.

Copyright

(Copyright © 2007, Elsevier Publishing)

DOI

10.1016/j.bone.2007.08.034

PMID

17931993

Abstract

INTRODUCTION: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. METHODS: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n = 114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n = 946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. RESULTS: The SNPs, +73187C>T (exon 3) and +76969T>G (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p = 0.009-0.05). Moreover, +159174A>C (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p = 0.002-0.005) and the minor allele of +159174A>C showed a protective effect. CONCLUSIONS: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women.

Language: en