Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women

Hee Jung Lee, Jung Min Koh, Joo Yeon Hwang, Kang Yell Choi, Seung Hun Lee, Eui Kyun Park, Tae Ho Kim, Bok Ghee Han, Ghi Su Kim, Shin Yoon Kim, Jong Young Lee

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Abstract

Osteoporosis is characterized by impaired osteoblastogenesis. Bone mineral density (BMD) is a major determinant of bone strength. RUNX2 is an osteoblast-specific transcription factor involved in osteoblast differentiation and ossification. To determine whether RUNX2 is associated with BMD in an ethnically distinct population, we investigated SNPs within the two RUNX2 promoters (P1 and P2) using the Illuminar GoldenGate system in 729 postmenopausal Korean women. Subjects bearing the minor homozygote genotype (CC) at the RUNX2 -1025 T > C SNP (rs7771980) located in P2 showed a significant association with reduced lumbar spine BMD (p = 0.02) and BMDs at proximal femur sites (trochanter, p = 0.05; total femur, p = 0.04) compared with subjects carrying the major homozygote genotype (TT) or the heterozygote genotype (TC), respectively. These results present an interesting genotype association complementary to the previously reported association of BMD with the RUNX2 -1025 T > C P2 SNP in Spanish and Australian cohorts. Therefore, we suggest that the RUNX2 P2 polymorphism (-1025 T > C) may be a useful genetic marker for bone metabolism and may play an important role in BMD in postmenopausal Korean women.

Original languageEnglish
Pages (from-to)439-445
Number of pages7
JournalCalcified Tissue International
Volume84
Issue number6
DOIs
Publication statusPublished - 2009 Jun 1

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine
  • Endocrinology

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    Lee, H. J., Koh, J. M., Hwang, J. Y., Choi, K. Y., Lee, S. H., Park, E. K., Kim, T. H., Han, B. G., Kim, G. S., Kim, S. Y., & Lee, J. Y. (2009). Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women. Calcified Tissue International, 84(6), 439-445. https://doi.org/10.1007/s00223-009-9246-6