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deCODE Discovers Variation in the Sequence of the Genome Conferring Risk of Atrial Fibrillation

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A paper published in the journal Nature describes the discovery by scientists at deCODE genetics in collaboration with academic colleagues in Iceland, the United States, Sweden and China, of two common single-letter variations in the genome (SNPs) conferring risk of atrial fibrillation (AF).

AF is the most common cardiac arrhythmia and is also the leading cause of cardiogenic stroke. The variants, located on chromosome 4q25, confer an approximately 70% and 40% increase above average risk of AF, respectively, per copy carried.

Approximately one third of people of European ancestry carry at least one copy of one of the risk variants, and deCODE’s results show that those who carry two copies of the more powerful variant are at a more than 250% greater likelihood of AF than those who carry neither variant. The gene nearest to these SNPs, PITX2, is known to play an important role in the development of the heart.

deCODE also launched deCODE AF™, a reference laboratory test for the variants. Because AF is the biggest risk factor for cardiogenic stroke, the company believes that testing for these variants will provide doctors with a targeted and means of identifying those who should be intensively monitored for AF.