A team of researchers reports to have discovered a variant associated with susceptibility to periodic limb movements in sleep (PLMS), according to a study appearing in the August 16 edition of the New England Journal of Medicine.
To conduct their research, the team performed a genome-wide association study and two replication studies to search for sequence variants contributing to Restless Leg Syndrome (RLS). In an Icelandic discovery sample of patients with RLS and periodic limb movements in sleep, the researchers observed a genome-wide significant association with a common variant in an intron of BTBD9 on chromosome 6p21.2.
This association was replicated in a second Icelandic sample and a US sample. Among the patients expressing this variant, “the population attributable risk of RLS with periodic limb movements was approximately 50%,” an abstract of the study stated.
The abstract went on to state, “An association between the variant and periodic limb movements in sleep without RLS (and the absence of such an association for RLS without periodic limb movements) suggests that we have identified a genetic determinant of periodic limb movements in sleep.”
Read the abstract from the study by clicking here.