Article

Calcified Tissue International

, Volume 84, Issue 6, pp 439-445

First online:

Association of a RUNX2 Promoter Polymorphism with Bone Mineral Density in Postmenopausal Korean Women

  • Hee-Jung LeeAffiliated withCenter for Genome Science, National Institute of Health
  • , Jung-Min KohAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center
  • , Joo-Yeon HwangAffiliated withCenter for Genome Science, National Institute of Health
  • , Kang-Yell ChoiAffiliated withNational Research Laboratory of Molecular Complex Control and Department of Biotechnology, Yonsei University
  • , Seung Hun LeeAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center
  • , Eui Kyun ParkAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDepartment of Pathology and Regenerative Medicine, School of Dentistry, Kyungpook National University
  • , Tae-Ho KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University Hospital
  • , Bok Ghee HanAffiliated withCenter for Genome Science, National Institute of Health
  • , Ghi Su KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDivision of Endocrinology and Metabolism, University of Ulsan College of Medicine, Asan Medical Center
    • , Shin-Yoon KimAffiliated withSkeletal Diseases Genome Research Center, Kyungpook National University HospitalDepartment of Orthopedic Surgery, Kyungpook National University School of Medicine Email author 
    • , Jong-Young LeeAffiliated withCenter for Genome Science, National Institute of Health Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.

Keywords

Osteoporosis Bone mineral density Promoter RUNX2 Polymorphism