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Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women

Uitterlinden, A G; Burger, H; Huang, Q; Yue, F; McGuigan, F E LU ; Grant, S F; Hofman, A; van Leeuwen, J P; Pols, H A and Ralston, S H (1998) In New England Journal of Medicine 338(15). p.21-1016
Abstract

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 Ialpha1, 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... (More)

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 Ialpha1, 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 COLIA1 polymorphism is associated with reduced bone density and predisposes women to osteoporotic fractures.

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publication status
published
keywords
Age Factors, Aged, Aged, 80 and over, Alleles, Bone Density, Collagen, Female, Fractures, Bone, Genotype, Humans, Middle Aged, Osteoporosis, Postmenopausal, Polymorphism, Genetic, Postmenopause, Regression Analysis, Risk Factors, Journal Article, Research Support, Non-U.S. Gov't
in
New England Journal of Medicine
volume
338
issue
15
pages
6 pages
publisher
Massachusetts Medical Society
external identifiers
  • scopus:17944404767
ISSN
0028-4793
DOI
10.1056/NEJM199804093381502
language
English
LU publication?
no
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cff5074f-4a0f-4f7c-82c7-bd54b248194e
date added to LUP
2018-01-02 11:12:59
date last changed
2018-01-12 11:07:01
@article{cff5074f-4a0f-4f7c-82c7-bd54b248194e,
  abstract     = {<p>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 Ialpha1, a bone-matrix protein.</p><p>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.</p><p>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).</p><p>CONCLUSIONS: The COLIA1 polymorphism is associated with reduced bone density and predisposes women to osteoporotic fractures.</p>},
  author       = {Uitterlinden, A G and Burger, H and Huang, Q and Yue, F and McGuigan, F E and Grant, S F and Hofman, A and van Leeuwen, J P and Pols, H A and Ralston, S H},
  issn         = {0028-4793},
  keyword      = {Age Factors,Aged,Aged, 80 and over,Alleles,Bone Density,Collagen,Female,Fractures, Bone,Genotype,Humans,Middle Aged,Osteoporosis, Postmenopausal,Polymorphism, Genetic,Postmenopause,Regression Analysis,Risk Factors,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  month        = {04},
  number       = {15},
  pages        = {21--1016},
  publisher    = {Massachusetts Medical Society},
  series       = {New England Journal of Medicine},
  title        = {Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women},
  url          = {http://dx.doi.org/10.1056/NEJM199804093381502},
  volume       = {338},
  year         = {1998},
}