Monthly Archives: April 2008

deCODE scientists discover another set of common genetic variants linked to risk of breast cancer

Posted by Keith Hayward under News, deCODEme on Apr 27

Scientists from deCODE genetics today report the discovery of two common single-letter variants (SNPs) associated with risk of estrogen receptor-positive (ER+) breast cancer. More than 60% of the general population carry at least one copy of the risk variant of the most important SNP, and women who have inherited the variant from both parents are at approximately 50% greater risk of developing ER+ breast cancer than women who have not inherited the variant. The second variant is located near the first and occurs only in tandem with it, adding slight risk of the disease. Although these variants confer modest risk, they are so common that they are estimated to account for approximately 11% of breast cancers overall.

With this latest discovery, the genetic factors underpinning a very significant proportion of inherited risk of ER+ breast cancer have now been elucidated. Common variants previously discovered by deCODE are together involved in an estimated 25% of ER+ breast cancers.

deCODE made today’s discovery through the analysis of genotypic data from a total of nearly 40,000 patients and control subjects from five countries. deCODE gratefully acknowledges the participation of the patients and researchers who took part in this study.

Link: Read the paper, ‘Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer’, in Nature Genetics

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A Smoking Gene: deCODE Scientists Identify a Genetic Variant that Confers Nicotine Dependence

Posted by Keith Hayward under Genetic Research, News, deCODE genetics, deCODEme on Apr 2

Scientists from deCODE genetics have identified a clear link between one genetic variant and susceptibility to nicotine dependence and will publish their results in the April 3 issue of Nature. Moreover, in part because of its impact on smoking behavior, each copy of the risk variant of this SNP confers an approximately 30% increase in risk of lung cancer and a 20% increase in risk of peripheral arterial disease (PAD), a common and debilitating constriction of the arteries to the legs.

deCODE scientists came upon the genetic variant by closely examining the genetic makeup of more than 10,000 smokers. They then followed up with an analysis of 32,000 patients and controls from Iceland, New Zealand, Austria, Sweden, Italy, the Netherlands and Spain for lung cancer and PAD, two common diseases strongly associated with smoking.

Kari Stefansson, deCODE CEO, expressed the importance of the discovery: “These findings provide an example of the power of human genetics for shedding light on the most complex health challenges. Not only have we made a convincing link between a single genetic variant and a behavioral disorder - greater smoking quantity and addiction to nicotine - but also demonstrated how this risk factor translates into risk of lung cancer and PAD.”

Stefansson also pointed out that deCODE’s genetic profile service, deCODEme, will test for the gene immediately.

Details of the smoking gene study, which was funded in part by the European Commission, and from the National Institute of Drug Abuse of the U.S. National Institutes of Health, are available at www.nature.com.

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