Reykjavik, ICELAND, May 17, 2009 – In a paper published today in the online edition of Nature Genetics, scientists from deCODE genetics (Nasdaq:DCGN) and academic colleagues from Iceland, Denmark and the Netherlands present the discovery of single letter variations in the sequence of the human genome (SNPs) that influence the age of girls at menarche, the first menstrual period. Age at menarche (AAM) is influenced by both genetic and environmental factors, though the SNPs reported today are the first genetic factors to be found. AAM is of interest not only because it heralds the beginning of a woman’s reproductive life, but because it is also linked with susceptibility to disease later in life. Obesity in particular is linked to earlier AAM, and earlier AAM is in turn associated with risk of breast, ovarian and endometrial cancers. Later AAM increases risk of osteporosis.
Through the analysis of more than 300,000 SNPs across the genomes of more than 15,000 Icelandic women, and confirmed through genotypic analysis of some 10,000 Danish and Dutch women, the deCODE team identified two common SNPs on chromosome 6q21 that are associated with between one and two months later AAM per copy carried. This was encouraging, as last year deCODE had linked the same SNPs to greater adult height, and increased aldult height has been shown to correlate with later AAM. Indeed, looking at height measurements from 38,000 Icelandic women, those carrying these SNPs were 0.3 cm taller per copy carried.
Furthermore it appears that it is AAM that is having the impact on height, and not the other way around. This is in keeping with the fact that the 6q21 variants also confer greater adult height in men, and also suggests that these SNPs should be involved in the onset of puberty in boys as well. The deCODE team also demonstrated that several known genetic variants linked to overweight and obesity also correlated with earlier AAM.
“The findings presented today are evidence of how our approach of bringing together vast amounts of genetic and health information can shed light on the processes driving complex human traits. These SNPs offer a first step toward understanding the genetic component of AAM, and probably the timing of the onset of puberty in boys as well. But we have also been able to use them to confirm that overweight and obesity is linked to earlier AAM, and to suggest that later AAM contributes to greater height. The next step in this work is to look at how these and other new genetic factors linked to the timing of the reproductive cycle may be used to predict and prevent disease. We plan to incorporate the most interesting of today’s findings into our deCODEme™ personal genome analysis service,” said Kari Stefansson, CEO of deCODE and senior author on the paper.
The paper, “Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche,” is published in the online edition of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming print edition of the journal.
deCODE is a bio-pharmaceutical company developing drugs and DNA-based tests to improve the treatment, diagnosis and prevention of common diseases. Its lead therapeutic programs, which leverage the company’s expertise in chemistry and structural biology, include DG041, an antiplatelet compound being developed for the prevention of arterial thrombosis; DG051 and DG031, compounds targeting the leukotriene pathway for the prevention of heart attack; and DG071 and a platform for other PDE4 modulators with therapeutic applications in Alzheimer’s disease and other conditions. deCODE is a global leader in human genetics, and has identified key variations in the genome (SNPs) conferring increased risk of major public health challenges from cardiovascular disease to cancer. Based upon these discoveries deCODE has brought to market a growing range of DNA-based tests for gauging risk and empowering prevention of common diseases. Through its CLIA-registered laboratory, deCODE offers deCODE T2™ for type 2 diabetes; deCODE AF™ for atrial fibrillation and stroke; deCODE MI™ for heart attack; deCODE ProstateCancer™ for prostate cancer; deCODE Glaucoma™ for a major type of glaucoma; and deCODE BreastCancer, for the common forms of breast cancer. deCODE is delivering on the promise of the new genetics.SM Visit us on the web at www.decode.com; on our diagnostics site at www.decodediagnostics.com; for our pioneering personal genome analysis service and new focused disease scans, integrating the genetic variants included in these tests and those linked to another twenty common diseases, as well as for our new deCODEme Cardio™ and deCODEme Cancer™ scans, at www.decodeme.com; and on our blog at www.decodeyou.com.
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