TY - JOUR
T1 - Osteocalcin
T2 - Genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis
AU - Raymond, Michael H.
AU - Schutte, Brian C.
AU - Torner, James C.
AU - Burns, Trudy L.
AU - Willing, Marcia C.
N1 - Funding Information:
The authors acknowledge the DNA core facility (David Moser, Director) for automated DNA sequence analysis, the laboratory of Dr. Jeffrey Murray for the generous provision of DNA reagents, and Carol Bunten, Sachi Deschenes, Margaret Malik, and Erik Roberts for their excellent technical assistance. This study was supported in part by the National Research Service Award through the University of Iowa Center on Aging, NIH T32AG00214 (M.H.R.) and P30-HD27748 (B.C.S.).
PY - 1999/9/1
Y1 - 1999/9/1
N2 - Osteocalcin is an abundant, highly conserved bone-specific protein that is synthesized by osteoblasts. Temporally, osteocalcin appears in embryonic bone at the time of mineral deposition, where it binds to hydroxyapatite in a calcium-dependent manner. A role for osteocalcin in bone resorption has been suggested because of its ability to influence recruitment and differentiation of osteoclasts at the bone surface. The human osteocalcin gene has been mapped to 1q25-1q31 by somatic cell hybridization. In this paper, we refine both the genetic map and the physical map of osteocalcin and describe a new microsatellite (CA) marker, D1S3737, which is tightly linked to the gene. This marker and two other closely linked markers were used to identify alleles of the osteocalcin gene in case and control samples of postmenopausal white Iowans with low and high bone mineral density (BMD), respectively. A significant difference (P = 0.007) was observed between allele frequency distributions of case and control women with one of the markers, D1S3737. Further, logistic regression analysis determined one allele of D1S3737 as associated with BMD status in this population (P = 0.03). Our data suggest that genetic variation at the osteocalcin locus impacts BMD levels in the postmenopausal period and may predispose some women to osteoporosis.
AB - Osteocalcin is an abundant, highly conserved bone-specific protein that is synthesized by osteoblasts. Temporally, osteocalcin appears in embryonic bone at the time of mineral deposition, where it binds to hydroxyapatite in a calcium-dependent manner. A role for osteocalcin in bone resorption has been suggested because of its ability to influence recruitment and differentiation of osteoclasts at the bone surface. The human osteocalcin gene has been mapped to 1q25-1q31 by somatic cell hybridization. In this paper, we refine both the genetic map and the physical map of osteocalcin and describe a new microsatellite (CA) marker, D1S3737, which is tightly linked to the gene. This marker and two other closely linked markers were used to identify alleles of the osteocalcin gene in case and control samples of postmenopausal white Iowans with low and high bone mineral density (BMD), respectively. A significant difference (P = 0.007) was observed between allele frequency distributions of case and control women with one of the markers, D1S3737. Further, logistic regression analysis determined one allele of D1S3737 as associated with BMD status in this population (P = 0.03). Our data suggest that genetic variation at the osteocalcin locus impacts BMD levels in the postmenopausal period and may predispose some women to osteoporosis.
UR - http://www.scopus.com/inward/record.url?scp=0033199097&partnerID=8YFLogxK
U2 - 10.1006/geno.1999.5893
DO - 10.1006/geno.1999.5893
M3 - Article
C2 - 10486212
AN - SCOPUS:0033199097
SN - 0888-7543
VL - 60
SP - 210
EP - 217
JO - Genomics
JF - Genomics
IS - 2
ER -