Abstract
Bone mineral density (BMD), the major factor determining bone strength, is closely related to osteoporotic fracture risk and is determined largely by multiple genetic factors. Semaphorin 7a (SEMA7A), a recently described member of the semaphorin family, has been shown to play a critical role in the activation of monocyte/macrophages that share progenitors with bone-resorbing osteoclasts and thus might contribute to osteoclast development. In the present study, we directly sequenced the SEMA7A gene in 24 Korean individuals, and identified 15 sequence variants. Five polymorphisms (+15667G>A, +15775C>G, +16285C>T, +19317C>T, +22331A>G) were selected and genotyped in postmenopausal Korean women (n=560) together with measurement of the areal BMD (g/cm2) of the anterior-posterior lumbar spine and the non-dominant proximal femur using dual-energy X-ray absorptiometry. We found that polymorphisms of the SEMA7A gene were associated with the BMD of the lumbar spine and femoral neck. SEMA7A+15775C>G and SEMA7A+22331A>G were associated with low BMD of the femoral neck (P=0.02) and lumbar spine (P=0.04) in a recessive model. SEMA7A-ht4 also showed an association with risk of vertebral fracture (OR=1.87–1.93, P=0.02–0.03). Our results suggest that variations in SEMA7A may play a role in decreased BMD and risk of vertebral fracture.
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Acknowledgement
This study was supported by a grant from the Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (Project No.: 01-PJ3-PG6-01GN11-0002).
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Jung-Min Koh and Bermseok Oh contributed equally to this work
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Koh, JM., Oh, B., Lee, J.Y. et al. Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women. J Hum Genet 51, 112–117 (2006). https://doi.org/10.1007/s10038-005-0331-z
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DOI: https://doi.org/10.1007/s10038-005-0331-z
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