Association of a RUNX2 promoter polymorphism with bone mineral density in postmenopausal Korean women.
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.
Lee
Hee-Jung
HJ
Center for Genome Science, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul, Republic of Korea.
Koh
Jung-Min
JM
Hwang
Joo-Yeon
JY
Choi
Kang-Yell
KY
Lee
Seung Hun
SH
Park
Eui Kyun
EK
Kim
Tae-Ho
TH
Han
Bok Ghee
BG
Kim
Ghi Su
GS
Kim
Shin-Yoon
SY
Lee
Jong-Young
JY
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D015519:Bone Density / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D010024:Osteoporosis / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause / Q000235:genetics*; D011401:Promoter Regions, Genetic
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human