ECTS2013 Poster Presentations Genetics (17 abstracts)
1Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Republic of Korea; 2Clinical Research Institute, Seoul, Republic of Korea; 3Department of Anesthesiology and Pain Medicine, School of Medicine, Ewha Womans University, Seoul, Republic of Korea.
Objective: The purpose of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in leptin (LEP), its receptor (LEPR) and β adrenergic receptor (ADRB) genes and bone mineral density (BMD) in postmenopausal Korean women.
Methods: The LEP c.280G>A, LEPR c.326A>G, c.668A>G, c.1968G>C, c.2096C>T, ADRB2 c.46A>G, c.79C>G, c.718T>C, c.741G>T, c.769G>A, ADRB3 c.190T>C polymorphisms were analyzed in 592 postmenopausal Korean women. Serum levels of leptin, soluble leptin receptor (sLR), osteoprotegerin (OPG), soluble receptor activator of the nuclear factor-κB ligand (sRANKL), bone alkaline phosphatase, and carboxy-terminal telopeptide of type I collagen were measured and BMDs at the lumbar spine and femoral neck were also examined.
Results: The LEPR c.1968G>C polymorphism only was found to be related with BMD at the femoral neck, and higher BMD was demonstrated with an increasing number of G allele (P=0.04). Osteoporosis at femoral neck were 3.27- and 3.89-times more frequently observed in the AG and GG genotypes compared to AA genotype in ADRB2 c.46A>G polymorphism (P=0.02 and P=0.02 respectively). However, no significant differences in serum levels of leptin, sLR, OPG, sRANKL, and bone turnover markers were detected among single and haplotype genotypes.
Conclusions: Our results suggest that the LEPR c.1968G>C polymorphism may be one of genetic factors affecting femoral neck BMD in postmenopausal Korean women, and that analysis of ADRB2 c.46A>G polymorphism may be useful in identifying women at risk of osteoporosis.