| ? | (G;G) (G;T) (T;T) | 28 |
 |
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].
In another study, rs2300478 was not associated with attention deficit hyperactivity disorder (ADHD). [PMID 19223043]
[PMID 19223043] Exploring the genetic link between RLS and ADHD
| GWAS snp
|
| PMID
|
[PMID 21779176]
|
| Trait
|
|
| Title
|
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
|
| Risk Allele
|
G
|
| P-val
|
3E-49
|
| Odds Ratio
|
1.6800 [1.57-1.81]
|
[PMID 19126776] MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
| GET Evidence
|
| rs2300478
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pathogenic
|
| qualified_impact
|
Insufficiently evaluated pathogenic
|
| overall_frequency
|
0.226562
|
| summary
|
|
Restless Legs Syndrome: Preliminary Research