Studies of Bone Density, Quantitative Ultrasound, and Vertebral Fractures in Relation to Collagen Type I Alpha 1 Alleles in Elderly Women

Abstract

Previous studies have demonstrated that an Sp1 binding site polymorphism in the collagen type I gene (COLIA1) is related to reduced bone mineral density (BMD) and osteoporotic fractures in certain populations, particularly in the elderly. We have examined the relationship among these COLIA1 Sp1 alleles, BMD, quantitative ultrasound properties of bone, and fractures in a population-based cohort of elderly women from the UK. The study group comprised 314 women aged 75 years and over who agreed to participate in a clinical study of bisphosphonate therapy in preventing bone loss at the hip. Women were enrolled regardless of the presence or absence of osteoporosis, but those with other diseases that might affect skeletal metabolism were excluded. The genotype distribution for the Sp1 polymorphism was in Hardy-Weinberg equilibrium (SS - 78%; Ss - 20%; ss - 2%) but the proportion of individuals who carried the "s" allele (22%) was significantly lower than previously observed in another study of the UK population (37.1%) (P < 0.001). There were no significant associations between COLIA1 genotypes and metacarpal cortical index, BMD of the forearm, tibial SOS, calcaneal SOS, or calcaneal BUA. While there was a trend towards lower BMD values at the hip in patients with Ss and ss genotypes, this was not statistically significant (SS = 0.721 +/- 0.14; Ss = 0.704 +/- 0.13; ss = 0.683 +/- 0.20 P = 0.6). Prevalent vertebral fractures occurred in 22% of subjects and prior fractures of the wrist, ankle, and hip were reported by 20%, but there was no significant difference in COLIA1 genotype distribution between fracture patients and controls. We conclude that COLIA1 Sp1 alleles are not significantly associated with BMD, ultrasound properties of bone, or fractures in this population-based sample of elderly women.

Collagen type I 1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women

“…This was very recently supported by the study of Kann et al, 25 which showed a negative association between COLIA1 Sp1 polymorphism and ultrasound transmission velocity in the calcaneus in postmenopausal women. However, in agreement with the study of Ashford et al, 32 we did not find an association between the ultrasound parameters and COLIA1 Sp1 polymorphism.…”

“…19 21 23 26 27 However, other studies failed to show an association between the COLIA1 Sp1 binding site polymorphism and osteoporosis in postmenopausal women. [28][29][30][31][32] Thus, the association between the COLIA1 gene and osteoporosis is still not definitely established.…”

Association between COL1A1 gene polymorphisms and bone size in Caucasians

“…29 The T allele of this SNP was reported to act as a risk factor to osteoporotic fracture in some studies, 12,14 but not in other populations. 30,31 We also analyzed the relationship between SNP2 and BMD in this population, and the risk effect of this SNP was not observed (Long J-R, personal communication). So far, only a few studies have been conducted to address the relationship between this SNP and bone geometry or bone structure.…”

Association of Collagen Type I α1 (COLIA1) Sp1 Polymorphism with Osteoporotic Fracture in Caucasian Post-menopausal Women: a Meta-analysis

“…For example, the COLIA1 Sp1 polymorphism has been found to play an important role in the pathogenesis of osteoporosis by affecting BMD and other predictors of osteoporotic fracture risk, such as ultrasound properties of bone and skeletal geometry. 28 A study by Mann et al 26 showed that the COLIA1 Sp1 polymorphism predisposed to osteoporotic fracture by affecting bone density and quality. The association between the COLIA1 genotype and increased femoral neck angle may contribute to the BMDindependent increase in hip fracture risk noted in previous studies of individuals who carry the 's' allele.…”