Reykjavik, ICELAND, October 4, 2009 – Scientists from deCODE genetics (Nasdaq:DCGN) and academic colleagues from seven countries today report the discovery of several novel, common single-letter variations in the sequence of the human genome (SNPs) contributing to risk of osteporosis. By combining and reanalyzing existing data on bone mineral density (BMD) – the clinical measurement used to diagnose osteoporosis – and hundreds of thousands of SNPs across the genome in more than 19,000 individuals, the study had the statistical power both to identify novel risk variants and to provide validation for many previously found by deCODE. The study, conducted under the auspices of the Genetic Factors for Osteoporosis (GEFOS) Consortium, funded by the European Union, brings together data from earlier studies in Iceland, the Netherlands, the United States and the United Kingdom.
Among the novel variants discovered are SNPs on chromosomes 1p31, 3p22, 5q14, 7p14, 7q21 and 11p14, 11p15, 16q24 and 17q12-22. The study also confirmed numerous SNPs identified by deCODE over the past two years, including SNPs on chromosomes 2q21, 4q21, 11p11 and 17q21 that were associated with lower BMD in the company’s earlier studies but which had not reached statistical significance due in part to the need for greater sample size. In total, there are now confirmed SNPs in twenty regions of the genome associated with decreased BMD, with many located near genes known to be involved in the formation and maintenance of bone tissue.
These findings may thus point to biological pathways that may provide targets for drug development. At the same time, although these known variants account for only a small proportion of the genetic contribution to variation in BMD, this study demonstrates that an appreciable distinction in BMD can already be predicted between those carrying at-risk SNPs at nearly all of the confirmed loci in the genome and those who carry the risk SNPs at relatively few. This underscores the value of ongoing work to find rare variants with a significant impact on BMD as well as remaining common variants. The identification of additional genetic risk factors may enable the development of a genetic test that can identify those who are at high risk of developing osteoporosis. Such a test would empower personalized approaches to disease prevention, including building greater bone mass during adolescence and early adulthood, and thereafter taking steps to slow bone loss through exercise, diet and medicine.
The paper, ‘Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies,’ is published today in the online edition of Nature Genetics, at www.nature.com/ng.
deCODE wishes to thank the patients, clinicians and scientists from many countries whose participation made this work possible. This study and the GEFOS Consortium (www.gefos.org) were funded by the European Commission through grant HEALTH-F2-2008-201865-GEFOS).
deCODE is a global leader in analysing and understanding the human genome. The company has identified key variations in the sequence of the genome conferring increased risk of major public health challenges from cardiovascular disease to cancer, and employs its gene discovery engine to develop DNA-based tests to assess individual risk of common diseases; to license its tests and intellectual property to partners; and to provide comprehensive, leading- edge contract services to companies and research institutions around the globe.
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