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A Smoking Gene: deCODE Shows How a Single Variant in the Sequence of the Genome Confers Nicotine Dependence and Risk of Lung Cancer and Other Disease
Date:4/2/2008

lung cancer and peripheral arterial disease,' is published today in the online edition of Nature, at http://www.nature.com.

"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 SNP 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. This is an important advance that we will use in our diagnostics programs to develop means to enable individuals and their doctors to better understand and reduce the risk of smoking to their health. As of today we have also integrated this variant into our deCODEme(TM) personal genome analysis service," said Kari Stefansson, CEO of deCODE.

The deCODE team began this study with a smoking history questionnaire distributed to some 50,000 Icelanders, in which respondents were asked to say whether they had ever smoked, were still smokers, and, if so, how many cigarettes they smoked per day. More than 300,000 SNPs were then analysed in a subset of more than 10,000 smokers participating in deCODE's research, and the "T" version SNP rs1051730 was shown to be more common in heavier smokers than in smokers overall and in the general population. It was also correlated with likelihood of clinical diagnosis of nicotine dependence. Interestingly, the variant is less common among smokers who smoked less than 10 cigarettes per day than it is among non-smokers, supporting the notion that the variant does not influence smoking initiation, but rather confers risk of nicotine dependence among those who start. The variant was then analyzed in a total 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.

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