TY - JOUR

T1 - Lack of influence of collagen type Ialpha1 Sp1 binding site polymorphism on the rate of bone loss in a cohort of postmenopausal danish women followed for 18 years

AU - Heegaard, Anne-Marie

AU - Jorgensen, H L

AU - Vestergaard, A W

AU - Hassager, C

AU - Ralston, S H

PY - 2000

Y1 - 2000

N2 - A polymorphism in an Sp1 site in the collagen Ialpha1 (COLIA1) gene has recently been identified and the Ss and ss genotypes were shown to be potentially important determinants of low bone mass in postmenopausal women. Additionally, in a Dutch population, the association of the COLIA1 polymorphism with low bone mineral density (BMD) was more pronounced with increasing age, suggesting a genotype effect on the rate of bone loss. We have investigated the relationship between the COLIA1 Sp1 polymorphism and the rate of bone loss in a longitudinal study with a total of 133 postmenopausal women followed for 18 years. The frequencies of the genotypes were SS 70.7%, Ss 27.8%, ss 1.5% and were in Hardy-Weinberg equilibrium. No association of the COLIA1 genotype with rate of bone loss was detected and there was no difference between the genotype groups with respect to BMD at the femoral neck or lumbar spine. Women with the Ss or ss genotypes, who have been postulated to have low BMD, had even higher BMD at the lower forearm than women with the SS genotype. The levels of serum osteocalcin and urinary collagen type I degradation products were not found to be associated with the COLIA1 Sp1 polymorphism. In conclusion, this study does not support the hypothesis that the Ss COLIA1 genotype predisposes women to increased rate of bone loss or low BMD. However, because of a low absolute number of the ss genotype, it was not possible to reach a conclusion on this particular genotype with regard to an association with low BMD or rate of bone loss.

AB - A polymorphism in an Sp1 site in the collagen Ialpha1 (COLIA1) gene has recently been identified and the Ss and ss genotypes were shown to be potentially important determinants of low bone mass in postmenopausal women. Additionally, in a Dutch population, the association of the COLIA1 polymorphism with low bone mineral density (BMD) was more pronounced with increasing age, suggesting a genotype effect on the rate of bone loss. We have investigated the relationship between the COLIA1 Sp1 polymorphism and the rate of bone loss in a longitudinal study with a total of 133 postmenopausal women followed for 18 years. The frequencies of the genotypes were SS 70.7%, Ss 27.8%, ss 1.5% and were in Hardy-Weinberg equilibrium. No association of the COLIA1 genotype with rate of bone loss was detected and there was no difference between the genotype groups with respect to BMD at the femoral neck or lumbar spine. Women with the Ss or ss genotypes, who have been postulated to have low BMD, had even higher BMD at the lower forearm than women with the SS genotype. The levels of serum osteocalcin and urinary collagen type I degradation products were not found to be associated with the COLIA1 Sp1 polymorphism. In conclusion, this study does not support the hypothesis that the Ss COLIA1 genotype predisposes women to increased rate of bone loss or low BMD. However, because of a low absolute number of the ss genotype, it was not possible to reach a conclusion on this particular genotype with regard to an association with low BMD or rate of bone loss.

KW - Absorptiometry, Photon

KW - Binding Sites

KW - Bone Density

KW - Bone Resorption

KW - Collagen

KW - Denmark

KW - Female

KW - Femur

KW - Follow-Up Studies

KW - Forearm

KW - Humans

KW - Longitudinal Studies

KW - Middle Aged

KW - Osteocalcin

KW - Osteoporosis, Postmenopausal

KW - Polymerase Chain Reaction

KW - Polymorphism, Genetic

KW - Spine

KW - Time Factors

M3 - Journal article

C2 - 10821875

VL - 66

SP - 409

EP - 413

JO - Calcified Tissue International

JF - Calcified Tissue International

SN - 0171-967X

IS - 6

ER -