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Genetic Mutation Linked To Higher Risk Of Osteoporosis MONTREAL, QC -- April 9, 1998 -- Some women may be at risk for osteoporosis due to genetic mutations which cause abnormal bone loss, researchers report in this week’s issue of the New England Journal of Medicine. Andre Uitterlinden and colleagues from The Netherlands examined the COLIA1 genotypes SS, Ss and ss in a population-based study of 1,778 women. COLIA1 is the gene for collagen type I(alpha)I, a bone-matrix protein. The researchers then related the individual genotypes to bone mineral density and the occurrence of osteoporotic fractures. The researchers found that compared to the 1,194 women with the SS genotype, the 526 women with the Ss genotype displayed an average two percent lower bone mineral density at the femoral neck and the lumbar spine. The difference was even more marked for the 58 women with the ss genotype, who displayed reductions of four percent at the femoral neck and six percent at the lumbar spine. These differences increased with age. Women with the Ss and ss genotypes were overrepresented among the 111 women who had incident nonvertebral fractures. The researchers concluded that mutations of this gene are linked to an increased prevalence of osteoporosis. E-mail this page to a friend or colleague! To print, use this version