Study is part of broad effort to make genetic risk factors discovered in one part of the world relevant to people of other continental ancestries
Reykjavik, ICELAND, 7 October 2010 – In a study published today, scientists at deCODE genetics and academic colleagues in Iceland, Hong Kong, Seoul and Daegu demonstrate that single-letter variations (SNPs) in multiple regions of the human genome associated with bone-mineral density (BMD) in Europeans are also associated with BMD in Chinese and Korean cohorts. BMD is the standard measurement used in the diagnosis osteporosis and the single best predictor of fragility fractures.
The study took SNPs in twenty-three regions of the genome linked to BMD in European populations and analyzed them in two cohorts from Hong Kong and one from Seoul. Fourteen of the twenty-three regions analyzed associated with BMD in the East Asian cohorts. In line with previous studies across continental ancestries in a variety of traits and diseases, some of the SNPs in these fourteen regions show significant variation both in frequency and impact between East Asians and Europeans. The lack of replication in SNPs in several regions may be due to to the fact that the East Asian cohorts were not large enough to provide a statistically significant association. In others, it appears that there may be true differences in the genetic factors contributing to BMD in Europe and East Asia. More sophisticated ancestry-shift analysis, such as deCODE recently used to replicate a Chineses breast cancer variant in European and African women, may lead to fuller replication and understanding of the true population differences in the genetic basis of BMD.
Today’s study underscores the importance of and some of the challenges in replicating genetic risk factors across continental ancestries. Other recent deCODE studies in atrial fibrillation and open-angle glaucoma have demonstrated that the same SNPs can have markedly and clinically-relevant differences in individuals of European and East Asian descent. All of these studies emphasize he need for broad interenational effort to accelerate this work, understanding how discoveries in Europeans can be made relevant in the rest of the world, and vice versa.
The paper, “European bone mineral density loci are also associated with BMD in East Asian populations,” is published online in the open-access journal PLoS ONE, at www.plosone.org.
Headquartered in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered key genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer. deCODE employs its capabilities to develop DNA-based tests and personal genome scans to better understand individual risk and empower prevention. It licenses its tests, intellectual property and analytical tools to partners, and conducts genotyping, sequencing and data analysis for companies and research institutions around the globe. Through its CLIA- and CAP-certified laboratory deCODE offers DNA-based tests for gauging risk and empowering prevention of common diseases, including deCODE Glaucoma™; deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; deCODE ProstateCancer™; and deCODE BreastCancer, for the common forms of breast cancer. Through its pioneering personal genome analysis service deCODEme™, deCODE enables individuals to better understand their risk of dozens of common diseases and to learn about their ancestry and other traits. Visit us on the web at www.decode.com.