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Genetic factor in osteoporosis discovered
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The genetic variant 677C>T — a single nucleotide polymorphism that is related to Alzheimer’s disease and cardiovascular disease — has been linked to osteoporotic vertebral fractures, according to scientists from the University of Barcelona.
The group’s study, published in Calcified Tissue International, asserts that more investigation is needed but notes that the findings will make it possible for preventive measures to be taken.
“In this genetic variant, the women that displayed a TT combination [or genotype] had double the risk of suffering from osteoporotic fractures than women with the other possible combinations [CT and CC],” Susana Balcells, PhD, and Daniel Grinberg, PhD, two of the study’s authors, noted in a press release.
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Image: SINC |
Studying polymorphisms
The research team performed association analyses of three functional polymorphisms that were previously associated with bone phenotypes in a cohort of 944 postmenopausal Spanish women. The investigators paid attention to lumbar spine bone mineral density data as well as femoral neck bone mineral density and fracture data.
They found significant differences between genotypes only for methylenetetrahydrofolate reductase gene polymorphism and vertebral fractures, with 677C>T displaying a link to osteoporotic vertebral fracture events.
Single nucleotide polymorphisms
The authors noted a problem, which is that the variant confirmed is “one of perhaps 100” that entail a heightened risk of osteoporosis. Analyzing these variants individually yields limited predictive value.
“This is why we’re asking diagnostic [laboratories] to be prudent,” they stated.
Single nucleotide polymorphisms (SNPs) are polymorphisms that affect a single nucleotide in the DNA sequence. There are two possible versions for each SNP in human populations. There are around 10 million SNPs in the human genome, spread throughout the chromosomes.
Reference:
Agueda L, Urreizti R, Bustamante M, et al. Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: Replication in a Spanish cohort. Calcif Tissue Int. 2010;87:14-24. DOI 10.1007/s00223-010-9361-4.
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