title: Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.
abstract: Recently, It has been reported that the LDL receptor-related protein 5 (LRP5) regulates bone formation, and that mutations of the gene cause osteoporosis-pseudoglioma syndrome or high bone mass phenotypes. However, the mutations cannot explain a genetic trait for osteoporosis in the general population because of their rarity. From 219 Korean men aged 20-34 yr, we looked for six known polymorphisms causing amino acid changes in the LRP5 coding region, and investigated their association with bone mineral density (BMD) at the following anatomical sites: lumbar spine (L2-L4) and the left proximal femur (femoral neck, Ward's triangle, trochanter and shaft). We found that the Q89R polymorphism was significantly associated with BMD at the femoral neck and Ward's triangle (p=0.004 and <0.001, respectively). However, after adjusting for age, weight and height, a statistically significant association only occurred at the Ward's triangle (p=0.043), and a marginal association was observed at the femoral neck (p=0.098). No A400V, V667M, R1036Q and A1525V polymorphisms were found, and no statistically significant association was found between the A1330V polymorphism and BMD at any sites. Although we failed to demonstrate a clear association between the LRP5 polymorphism and peak bone mass in young men, the present study suggests that larger-scale studies on the Q89R polymorphism need to be performed.
authors.affiliation: Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Koh
authors.forename: Min Hui
authors.initials: MH
authors.lastname: Jung
authors.forename: Jeong Soo
authors.initials: JS
authors.lastname: Hong
authors.forename: Hyung Joo
authors.initials: HJ
authors.lastname: Park
authors.forename: Jae Suk
authors.initials: JS
authors.lastname: Chang
authors.forename: Hyoung Doo
authors.initials: HD
authors.lastname: Shin
authors.forename: Shin Yoon
authors.initials: SY
authors.lastname: Kim
authors.forename: Ghi Su
authors.initials: GS
authors.lastname: Kim
mesh_terms: D000328:Adult; D015519:Bone Density; D017931:DNA Primers / Q000737:chemistry; D003720:Densitometry; D005269:Femur / Q000473:pathology; D005838:Genotype; D006801:Humans; D007723:Korea; D026502:LDL-Receptor Related Proteins; D016014:Linear Models; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008159:Lumbar Vertebrae / Q000473:pathology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011973:Receptors, LDL / Q000235:genetics* / Q000378:metabolism
chemical_list: D017931:DNA Primers; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011973:Receptors, LDL