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The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study.
Calcif Tissue Int. 2007 Jul; 81(1):18-25.CT

Abstract

The COLIA1 Sp1 polymorphism has been associated with bone mineral density (BMD) and fracture. A promoter polymorphism, -1997 G/T, also has been associated with BMD. In this study, we examined whether these polymorphisms alone and in the form of haplotypes influence bone parameters and fracture risk in a large population-based cohort of elderly Caucasians. We determined the COLIA1 -1997 G/T (promoter) and Sp1 G/T (intron) polymorphisms in 6,280 individuals and inferred haplotypes. Femoral neck BMD and BMD change were compared across COLIA1 genotypes at baseline and follow-up (mean 6.5 years). We also investigated the relationship between the COLIA1 polymorphisms and incident nonvertebral fractures, which were recorded during a mean follow-up period of 7.4 years. Vertebral fractures were assessed by radiographs on 3,456 genotyped individuals. Femoral neck BMD measured at baseline was 3.8% lower in women carrying two copies of the T-Sp1 allele (P for trend = 0.03). No genotype dependent differences in BMD loss were observed. In women homozygous for the T allele of the Sp1 polymorphism, the risk of fragility fracture increased 2.3 times (95% confidence interval 1.4-3.9, P = 0.001). No such association was observed with the promoter polymorphism. In men, no association with either the Sp1 or the -1997 G/T promoter polymorphism was seen with BMD or fracture. High linkage disequilibrium (LD; D' = 0.99, r (2)= 0.03) exists between the two studied polymorphisms. We observed three haplotypes in our population: haplotype 1 (G(promoter)-G(intron)) frequency (f) = 69%, haplotype 2 (G(promoter)-T(intron)) f = 17.6%, and haplotype 3 (T(promoter)-G(intron)) f = 13.4%. Haplotype 2 was associated with a 2.1-fold increased risk of fragility fracture in women (95% confidence interval 1.2-3.7, P = 0.001). We confirm that the COLIA1 Sp1 polymorphism influences BMD and the risk of fracture in postmenopausal Caucasian women. In contrast, we found no independent effect of the -1997 G/T promoter polymorphism on BMD or fracture.

Authors+Show Affiliations

Netherlands Institute for Health Science, Rotterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17551768

Citation

Yazdanpanah, Nahid, et al. "The -1997 G/T and Sp1 Polymorphisms in the Collagen Type I Alpha1 (COLIA1) Gene in Relation to Changes in Femoral Neck Bone Mineral Density and the Risk of Fracture in the Elderly: the Rotterdam Study." Calcified Tissue International, vol. 81, no. 1, 2007, pp. 18-25.
Yazdanpanah N, Rivadeneira F, van Meurs JB, et al. The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study. Calcif Tissue Int. 2007;81(1):18-25.
Yazdanpanah, N., Rivadeneira, F., van Meurs, J. B., Zillikens, M. C., Arp, P., Hofman, A., van Duijn, C. M., Pols, H. A., & Uitterlinden, A. G. (2007). The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study. Calcified Tissue International, 81(1), 18-25.
Yazdanpanah N, et al. The -1997 G/T and Sp1 Polymorphisms in the Collagen Type I Alpha1 (COLIA1) Gene in Relation to Changes in Femoral Neck Bone Mineral Density and the Risk of Fracture in the Elderly: the Rotterdam Study. Calcif Tissue Int. 2007;81(1):18-25. PubMed PMID: 17551768.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study. AU - Yazdanpanah,Nahid, AU - Rivadeneira,Fernando, AU - van Meurs,Joyce B J, AU - Zillikens,M Carola, AU - Arp,P, AU - Hofman,Albert, AU - van Duijn,Cornelia M, AU - Pols,Huibert A P, AU - Uitterlinden,André G, Y1 - 2007/06/07/ PY - 2007/02/07/received PY - 2007/04/04/accepted PY - 2007/04/03/revised PY - 2007/6/7/pubmed PY - 2007/10/16/medline PY - 2007/6/7/entrez SP - 18 EP - 25 JF - Calcified tissue international JO - Calcif Tissue Int VL - 81 IS - 1 N2 - The COLIA1 Sp1 polymorphism has been associated with bone mineral density (BMD) and fracture. A promoter polymorphism, -1997 G/T, also has been associated with BMD. In this study, we examined whether these polymorphisms alone and in the form of haplotypes influence bone parameters and fracture risk in a large population-based cohort of elderly Caucasians. We determined the COLIA1 -1997 G/T (promoter) and Sp1 G/T (intron) polymorphisms in 6,280 individuals and inferred haplotypes. Femoral neck BMD and BMD change were compared across COLIA1 genotypes at baseline and follow-up (mean 6.5 years). We also investigated the relationship between the COLIA1 polymorphisms and incident nonvertebral fractures, which were recorded during a mean follow-up period of 7.4 years. Vertebral fractures were assessed by radiographs on 3,456 genotyped individuals. Femoral neck BMD measured at baseline was 3.8% lower in women carrying two copies of the T-Sp1 allele (P for trend = 0.03). No genotype dependent differences in BMD loss were observed. In women homozygous for the T allele of the Sp1 polymorphism, the risk of fragility fracture increased 2.3 times (95% confidence interval 1.4-3.9, P = 0.001). No such association was observed with the promoter polymorphism. In men, no association with either the Sp1 or the -1997 G/T promoter polymorphism was seen with BMD or fracture. High linkage disequilibrium (LD; D' = 0.99, r (2)= 0.03) exists between the two studied polymorphisms. We observed three haplotypes in our population: haplotype 1 (G(promoter)-G(intron)) frequency (f) = 69%, haplotype 2 (G(promoter)-T(intron)) f = 17.6%, and haplotype 3 (T(promoter)-G(intron)) f = 13.4%. Haplotype 2 was associated with a 2.1-fold increased risk of fragility fracture in women (95% confidence interval 1.2-3.7, P = 0.001). We confirm that the COLIA1 Sp1 polymorphism influences BMD and the risk of fracture in postmenopausal Caucasian women. In contrast, we found no independent effect of the -1997 G/T promoter polymorphism on BMD or fracture. SN - 0171-967X UR - https://www.unboundmedicine.com/medline/citation/17551768/The__1997_G/T_and_Sp1_polymorphisms_in_the_collagen_type_I_alpha1__COLIA1__gene_in_relation_to_changes_in_femoral_neck_bone_mineral_density_and_the_risk_of_fracture_in_the_elderly:_the_Rotterdam_study_ DB - PRIME DP - Unbound Medicine ER -