Restless Leg Syndrome (Winkelmann, 2011)

Blue legs on wall, restless leg syndrome

STUDY TITLE: Genome-wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

SUMMARY: Restless leg syndrome is associated with variants near the MEIS1 gene and in the TOX3 gene.

DESCRIPTION:  Restless leg syndrome causes uncomfortable sensations in the legs and irresistible urges to move them. This most often affects the patient at night, making it difficult to get a good night’s sleep. While previous genome-wide studies have discovered variants correlated to this condition, they do not explain all of the heritability of it. This genome-wide association study identified genetic variants linked to this syndrome by studying 2,448 individuals of European ancestry. Two genetic variants stood out as highly significant – one in an intron (non-coding region) near the MEIS1 gene and the other in the TOX3 gene. The product of the TOX3 gene is involved in unwinding DNA to activate other genes. The MEIS1 gene encodes a protein that regulates the activity of other genes and is required for the production of blood cells.

DID YOU KNOW? In addition to taking medication, the symptoms of this syndrome can be alleviated by taking warm baths, massaging your leg muscles, exercising, avoiding caffeine, and having a good sleep schedule. [SOURCE]

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Example of personalized results on Nebula

RESTLESS LEG-ASSOCIATED VARIANTS: rs2300478, rs12593813, rs9357271, rs3104767, rs6747972, rs1975197

Restless Leg Syndrome Fact Sheets
Exons and Introns

WEEKLY UPDATE: July 23, 2019