Genetic links to heart and eye disease identified: study

Genome screening is also giving new insights into poorly understood disorders such as restless leg syndrome, an urge to move one’s legs at night that often disrupts patients’ sleep. Some researchers have questioned whether the disease, described in doctors’ writings as long as 350 years ago, has any physiological basis.

Papers published in the New England Journal by researchers from DeCode Genetics Inc. of Iceland and in Nature Genetics by Max Planck Institute of Psychiatry scientists point to a gene called BTBD9 on chromosome 6 as a partial explanation for the disorder. The Max Planck paper, published in Nature Genetics, found three additional genes at other locations that raise the risk of the disorder.

Some scientists had said that restless leg syndrome was a myth, pointing out that it was far more common in developed countries in the West, where health care is more available than in developing Eastern nations. The BTBD9 variant is also more common in people of European descent, which may explain why the disease occurs in the West, said Kari Stefansson, DeCode’s chief executive officer.

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