deCODE Discovers Common Genetic Variations Contributing to Low Bone Mineral Density and Risk of Osteoporosis
News Dec 16, 2008
Scientists from deCODE genetics and colleagues from Australia and Denmark report the discovery of common single-letter variations (SNPs) in the human genome linked to low bone mineral density (BMD), the clincial measurement used to diagnose osteoporosis.
deCODE had previously identified five sites in the genome harboring SNPs with influence on BMD, and this study has added four more. They were identified through the correlation of BMD measurements with more than 300,000 SNPs across the genomes of 7,000 study participants in Iceland.
The findings were then followed up and replicated in more than 5,000 participants from Denmark and Australia. The paper, “New sequence variants asociated with bone mineral density,” is published in the online edition of Nature Genetics at www.nature.com/ng, and will appear in an upcoming print edition of the journal.
The new variants are located on chromosomes 17q21, 14q32, 12q13 and 18q21. Like the variants previously discovered by deCODE, certain of those are known to be involved in bone and skeletal development. The SNPs on chromosome 17 are adjacent to the SOST gene, which encodes sclerostin, a protein involved in the formation of bone. And the SNP on chromosome 18 lies close to the TNFRSF11A gene that has been implicated in Paget’s disease, a disorder causing localized bone deformities and weakness.
Computation and Chemistry Combine to Create World-First Auxetic ProteinNews
A team of chemists at the University of California, San Diego (UCSD) has now designed a two-dimensional protein crystal that toggles between states of varying porosity and density. This is a first in biomolecular design that combined experimental studies with computation done on supercomputers. The research, published in April 2018 in Nature Chemistry, could help create new materials for renewable energy, medicine, water purification, and more.
Fructose Formula Poses Risk to Babies With Metabolic DisorderNews
Babies with inherited intolerance of fructose face a risk of acute liver failure if they are fed certain widely available formulas containing fructose, pediatricians and geneticists are warning. Baby formula manufacturers should remove fructose or sucrose, or explicitly label their products to allow parents to avoid those sweeteners if necessary, the doctors say.
4000-Year Old DNA Helps Track the Spread of Rice Farming in AsiaNews
Rice farming spread far and wide in ancient Southeast Asia, but how it got there has been a mystery. Now, a study of 4000-year-old DNA—a rare find in this region—suggests it came with farmers migrating from China, where rice farming originated.
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