title: Association of osteoporosis susceptibility genes with bone mineral density and bone metabolism related markers in Koreans: the Chungju Metabolic Disease Cohort (CMC) study.
abstract: In this study, we evaluated the association between bone mineral density (BMD) and 10 single-nucleotide polymorphisms (SNPs) within eight osteoporosis susceptibility genes that were previously identified in genome-wide association studies (GWASs). A total of 494 men and 493 postmenopausal women participating in the Chungju Metabolic Disease cohort study in Korea were included. The following 10 SNPs were genotyped: ZBTB40 rs6426749, MEF2C rs1366594, ESR1 rs2941740, TNFRSF11B rs3134070, TNFRSF11B rs2073617, SOX6 rs711785, LRP5 rs599083, TNFSF11 rs227438, TNFSF11 rs9594782, and FOXL1 rs10048146; and the association between these SNPs and bone metabolism-related markers was assessed. Two SNPs, TNFSF11 rs2277438 and FOXL1 rs1004816, were associated with lumbar spine BMD. TNFSF11 rs2277438 in men and SOX6 rs7117858 and FOXL1 rs10048146 in postmenopausal women were found to be associated with lumbar BMD. ZBTB40 rs6426749, MEF2C rs1366594, and LRP5 rs599083 showed significant associations with femur neck BMD. These three SNPs in men and MEF2C rs1366594 and ESR1 rs2941740 in postmenopausal women were associated with femur neck BMD. A significant association between MEF2C rs1366594 and serum calcium levels was observed in men. Serum phosphorus levels were related to SOX6 rs7117858. Serum PTH levels were significantly associated with TNFRSF11B rs3134070 in men, and SOX6 rs711858 in postmenopausal women. In conclusion, our study independently confirmed associations between several SNPs: ZBTB40, MEF2C, ESR1, SOX6, LRP5, TNFSF11, and FOXL1 and bone marrow density in the Korean population.
authors.affiliation: Department of Endocrinology and Metabolism, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Se Eun
authors.initials: SE
authors.lastname: Park
authors.forename: Ki Won
authors.initials: KW
authors.lastname: Oh
authors.forename: Won Young
authors.initials: WY
authors.lastname: Lee
authors.forename: Ki Hyun
authors.initials: KH
authors.lastname: Baek
authors.forename: Kun Ho
authors.initials: KH
authors.lastname: Yoon
authors.forename: Ho Young
authors.initials: HY
authors.lastname: Son
authors.forename: Won Chul
authors.initials: WC
authors.lastname: Lee
authors.forename: Moo Il
authors.initials: MI
authors.lastname: Kang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D015519:Bone Density / Q000235:genetics / Q000502:physiology*; D001842:Bone and Bones / Q000378:metabolism; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D047628:Estrogen Receptor alpha / Q000235:genetics; D005260:Female; D005272:Femur Neck / Q000502:physiology; D051858:Forkhead Transcription Factors / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics; D008159:Lumbar Vertebrae / Q000502:physiology; D064326:MEF2 Transcription Factors / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017698:Postmenopause / Q000502:physiology; D053245:RANK Ligand / Q000235:genetics; D056910:Republic of Korea; D055755:SOXD Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; C491001:FOXL1 protein, human; D051858:Forkhead Transcription Factors; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D053245:RANK Ligand; C486270:SOX6 protein, human; D055755:SOXD Transcription Factors; C505688:TNFSF11 protein, human; C576826:ZBTB40 protein, human