rs2300478, a SNP located in the MEIS1 gene, has been linked to restless legs syndrome, a common sleep disorder, with an overall odds ratio of 1.78 (CI: 1.52-2.09) for the (G) risk allele [PMID 17637780]. The association between this SNP and RLS has been replicated in three European populations, within family lines but not in sporadic cases [PMID 19279021].
The highest association to restless legs syndrome is a haplotype consisting of the rs6710341(A) and rs12469063(G) alleles. This haplotype gives rise to an odds ratio of 2.75 (CI: 2.23-3.41) [PMID 17637780].
|Condition||Restless legs syndrome|
[PMID 19223043] Exploring the genetic link between RLS and ADHD
|Title||Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.|
|Odds Ratio||1.6800 [1.57-1.81]|
[PMID 21925394] Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.
[PMID 19126776] MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
|qualified_impact||Insufficiently evaluated pathogenic|