Common Genetic Variant Linked To Osteoporosis

NEW YORK (Reuters Health) - A polymorphism in the gene for an estrogen degradation enzyme appears to increase the risk of osteoporosis, according to a report in the February issue of the Journal of Bone and Mineral Research. Moreover, this variant is common, affecting up to 19% of women.

Previous reports have linked polymorphisms in the CYP1A1 gene with hormone-related cancers. In the present study, Dr. Reina Armamento-Villareal, from Washington University in St. Louis, and colleagues evaluated the effect of these variants on estrogen metabolism and bone mineral density (BMD) in 156 Caucasian women.

Subjects who were either homozygous or heterozygous for the A allele of the C4887A polymorphism of CYP1A1 had lower serum estradiol levels and higher estrogen metabolite levels in the urine than noncarriers of the allele (p < 0.05 for both). Together these findings suggest heightened estrogen catabolism in AA or CA subjects.

Further testing showed that BMD at all femur sites was decreased in A allele carriers compared with CC subjects. In contrast, this polymorphism had no apparent effect on lumbar spine BMD.

Lastly, a bone resorption marker called urinary NTx was higher in subjects with the A allele than in those lacking it.

Although only one subject had the AA genotype, 28 women with the CA genotype were identified, the researchers note.

Screening for the C4887A polymorphism “may be helpful in the future to identify individuals at risk of low bone mass who may represent the best candidates for preventative approaches to osteoporosis,” the authors conclude.

Source: J Bone Joint Surg Am 2005. [ Google search on this article ]

MeSH Headings:Musculoskeletal Physiology: Musculoskeletal, Neural, and Ocular Physiology: Bone Density: Polymorphism, Single Nucleotide: Biological SciencesCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.

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