TY - JOUR
T1 - Relation of alleles of the collagen type Iα1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women
AU - Uitterlinden, André G.
AU - Burger, Huibert
AU - Huang, Qiuju
AU - Yue, Fang
AU - McGuigan, Fiona E.A.
AU - Grant, Struan F.A.
AU - Hofman, Albert
AU - Van Leeuwen, Johannes P.T.M.
AU - Pols, Huibert A.P.
AU - Ralston, Stuart H.
PY - 1998/4/9
Y1 - 1998/4/9
N2 - Background Osteoporosis is a common disorder with a strong genetic component. One way in which the genetic component could be expressed is through polymorphism of COLIA1, the gene for collagen type Iα1, a bone- matrix protein. Methods We determined the COLIA1 genotypes SS, Ss, and ss in a population-based sample of 1778 postmenopausal women using a polymerase- chain-reaction-based assay. We then related the genotypes to bone mineral density and the occurrence of osteoporotic fractures in these women. Results As compared with the 1194 women with the SS genotype, the 526 women with the Ss genotype had 2 percent lower bone mineral density at the femoral neck (P=0.003) and the lumbar spine (P=0.02), the 58 women with the ss genotype had reductions of 4 percent at the femoral neck (P=0.05) and 6 percent at the lumbar spine (P=0.005). These differences increased with age (P=0.01 for modification by age of the effect of COLIA1 on femoral-neck bone density, and P=0.004 for modification of the effect on lumbar-spine bone density). Women with the Ss and ss genotypes were overrepresented among the 111 women who had incident nonvertebral fractures (relative risk per copy of the s allele, 1.5; 95 percent confidence interval, 1.1 to 2.1). Conclusions The COLIA 1 polymorphism is associated with reduced bone density and predisposes women to osteoporotic fractures.
AB - Background Osteoporosis is a common disorder with a strong genetic component. One way in which the genetic component could be expressed is through polymorphism of COLIA1, the gene for collagen type Iα1, a bone- matrix protein. Methods We determined the COLIA1 genotypes SS, Ss, and ss in a population-based sample of 1778 postmenopausal women using a polymerase- chain-reaction-based assay. We then related the genotypes to bone mineral density and the occurrence of osteoporotic fractures in these women. Results As compared with the 1194 women with the SS genotype, the 526 women with the Ss genotype had 2 percent lower bone mineral density at the femoral neck (P=0.003) and the lumbar spine (P=0.02), the 58 women with the ss genotype had reductions of 4 percent at the femoral neck (P=0.05) and 6 percent at the lumbar spine (P=0.005). These differences increased with age (P=0.01 for modification by age of the effect of COLIA1 on femoral-neck bone density, and P=0.004 for modification of the effect on lumbar-spine bone density). Women with the Ss and ss genotypes were overrepresented among the 111 women who had incident nonvertebral fractures (relative risk per copy of the s allele, 1.5; 95 percent confidence interval, 1.1 to 2.1). Conclusions The COLIA 1 polymorphism is associated with reduced bone density and predisposes women to osteoporotic fractures.
UR - http://www.scopus.com/inward/record.url?scp=17944404767&partnerID=8YFLogxK
U2 - 10.1056/NEJM199804093381502
DO - 10.1056/NEJM199804093381502
M3 - Article
C2 - 9535665
AN - SCOPUS:17944404767
VL - 338
SP - 1016
EP - 1021
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 15
ER -