deCODE Discovers a Major Risk Factor for Type 2 Diabetes Dependent on Parent of Origin

Thursday, December 17, 2009 Research News
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REYKJAVIK, Iceland, December 16 Scientists atdeCODE genetics, Inc. (Nasdaq:DCGN) publish in the journal Nature thediscovery of a version of a common single-letter variant in the sequence ofthe human genome (SNP) with a major impact on susceptibility to type 2diabetes (T2D). The impact of the T2D variant is not only large, but unusual:if an individual inherits it from their father, the variant increases risk ofT2D by more than 30% compared to those who inherit the non T2D-linkedversion; if inherited maternally, the variant lowers risk by more than 10%compared to the non T2D-linked version. Nearly one quarter of those studiedhave the highest risk combination of the versions of this SNP, putting themat a roughly 50% greater lifetime risk of T2D than the quarter with theprotective combination. This is the second largest effect of any geneticvariant for T2D apart from SNPs in TCF7L2, discovered by deCODE in 2006.

"We could make this discovery beacause we are in the unique position ofbeing able to distinguish what is inherited from the mother from what isinherited from the father. This we can do because of the large amount of datawe have assembled on the Icelandic population. These data empower us in manyways. For example, using our ability to impute sequence data, we can multiplyby 100 times the amount of information generated by sequencing oneindividual. We can use these tools to discover and integrate rarer variantsinto our tests and scans, identify drug targets for licensing, and put ourknow-how at the disposal of our service customers. We believe that this is animportant advantage for conducting large-scale whole sequence studies overthe next couple of years," said Kari Stefansson, CEO of deCODE.

Because the risk is inherited and varies in this way, the SNP, located onchromsome 11, had never been linked to T2D even though it had been genotypedin large, traditional genome-wide association studies (GWAS). These do notdistinguish between paternally and maternally inherited SNPs. But deCODE cantrack the parental origin of virtually any SNP in the genome of the tens ofthousands of Icelandic participants in the company's gene discovery work. Inthis study, deCODE used its population-wide genealogy database andproprietary statistical tools to determine the parent of origin of a numberof SNPs in some 40,000 Icelandic participants in the company's gene discoveryprograms. Some of these SNPs had previously been associated with differentdiseases and are located near "imprinted" genes - genes in which only thematernally or paternally inherited copy is "switched-on" to encode a protein.Five of these, one each in breast and skin cancer and three in T2D, showedthat the parental origin of the variants affects the risk they confer.

The paper, "Parental origin of sequence variants associated with complexdiseases," is published online at, and will appear inthe December 17 print edition.

About deCODE

deCODE is a global leader in analysing and understanding the humangenome. deCODE has identified key variations in the sequence of the genomeconferring increased risk of major public health challenges fromcardiovascular disease to cancer, and employs its gene discovery engine todevelop DNA-based tests to assess individual risk of common diseases; tolicense its tests and intellectual property to partners; and to providecomprehensive, leading- edge contract services to companies and researchinstitutions around the globe. Through its CLIA- and CAP-certified laboratorydeCODE offers DNA-based tests for gauging risk and empowering prevention ofcommon diseases, including deCODE T2(TM) for type 2 diabetes; deCODE AF(TM)for atrial fibrillation and stroke; deCODE MI(TM) for heart attack; deCODEProstateCancer(TM) for prostate cancer; deCODE Glaucoma(TM) for a major typeof glaucoma; and deCODE BreastCancer, for the common forms of breast cancer.Through its pioneering personal genome analysis service deCODEme(TM), deCODEenables individuals to better understand their risk of dozens of commondiseases and to learn about their ancestry and other traits. Visit us on theweb at; at; at; and on our blog at

Any statements contained in this presentation that relate to futureplans, events or performance are forward-looking statements within themeaning of the Private Securities Litigation Reform Act of 1995. Theseforward-looking statements include, without limitation, statements regardingdeCODE's expectations concerning the bankruptcy process and the continuationof day-to-day operations. deCODE's actual results could differ materiallyfrom those anticipated in the forward-looking statements as a result of risksand uncertainties, including, without limitation, (1) the impact of theannouncement of its bankruptcy filing on deCODE's operations; (2) the abilityof deCODE to maintain sufficient debtor-in-possession financing to fund itsoperations and the expenses of the Chapter 11 proceeding; (3) the ability ofdeCODE to obtain court approval of its motions in the Chapter 11 proceeding;(4) the outcome and timing of the proposed sale of deCODE's assets, includingdeCODE's ability to close a transaction with SagaInvestments, LLC or anyother purchaser; (5) the uncertainty associated with motions by third partiesin the bankruptcy proceeding; (6) deCODE's ability to obtain and maintainnormal terms with vendors and service providers and contracts that arecritical to its operation; and (7) other risks identified in deCODE's filingswith the Securities and Exchange Commission, including, without limitation,the risk factors identified in our most recent Annual Report on Form 10-K andany updates to those risk factors filed from time to time in our QuarterlyReports on Form 10-Q or Current Reports on Form 8-K. deCODE undertakes noobligation to update or alter these forward-looking statements as a result ofnew information, future events or otherwise.Contacts: deCODE genetics Edward Farmer +354-570-2819 + Gisli Arnason +354-570-1900 Joy Bessenger +1-212-481-3891

SOURCE DeCODE Genetics Inc

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