Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MEIS1 and LBXCOR1 are developmental factors and raise new pathophysiologic questions for RLS.
|
18541116 |
2008 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
|
21779176 |
2011 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm an association between the BTBD9, MEIS1, and MAP2K5/SKOR1 single-nucleotide polymorphisms and periodic limb movements of sleep in an elderly cohort not selected for the presence of restless legs syndrome.
|
26498236 |
2015 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multivariate regression analyses further showed that rs2300478 in MEIS1 (OR = 1.39, p = 0.018), a CM diagnosis (OR = 1.52, p = 0.022), and depression (OR = 1.86, p = 0.005) were independent predictors of RLS in migraine.
|
26643377 |
2016 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This regulation appears mediated through the binding of MEIS1 at two specific sites located in the SKOR1 promoter region and is modified by an RLS associated SNP in the promoter region of the gene.
|
30111810 |
2018 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the German sample, variants in MEIS1 and BTBD9 were associated with RLS in ESRD (P(nom)≤0.004, ORs 1.52 and 1.55), whereas, in the Greek sample, there was a trend for association to MAP2K5/SKOR1 and BTBD9 (P(nom)≤0.08, ORs 1.41 and 1.33).
|
21572129 |
2011 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report a detailed sleep analysis of heterozygous Meis1 knockout mice and challenge it with pramipexole, a dopamine agonist used in the treatment of RLS.
|
28695622 |
2018 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
|
29029846 |
2017 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several susceptible single nucleotide polymorphisms such as BTBD9 and MEIS1, which are thought to be involved in embryonic neuronal development, have been reported to be associated with RLS.
|
28626420 |
2017 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85-1·99).
|
29029846 |
2017 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sorting of RLS patients according to MEIS1 polymorphism reconfirmed the association between MEIS1 and PLMS, and showed a significant increased sympathovagal balance during N3 stage in those homozygotes for the risk allele.
|
28425489 |
2017 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, the <i>Meis1</i>-deficient mice fulfill some of the hallmarks of an RLS animal model, and revealed the role of Meis1 in sensorimotor gating and in the dopaminergic systems modulating it.
|
28645892 |
2017 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Restless legs syndrome (RLS) is associated with common variants in three intronic and intergenic regions in MEIS1, BTBD9, and MAP2K5/LBXCOR1 on chromosomes 2p, 6p and 15q.
|
19279021 |
2009 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
Additional analyses favor the hypothesis that MEIS1 exhibits pleiotropy for insomnia and RLS and show that the observed association with insomnia complaints cannot be explained only by the presence of an RLS subgroup within the cases.
|
28604731 |
2017 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To further validate the GWAS findings, we investigated three variants, rs2300478 in MEIS1, rs9357271 in BTBD9, and rs1026732 in MAP2K5/SKOR1 in 38 RLS families and 189 RLS patients/560 controls from the US for their association with RLS.
|
21925394 |
2011 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
|
17637780 |
2007 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
While it is not known how these changes in dopamine or iron produce the symptoms of RLS, genetic and hormone studies of RLS have identified other biologic systems or genes, such as the endogenous opioid and melanocortin systems and BTBD9 and MEIS1, that may explain some of the iron or dopamine changes in relation to RLS.
|
28236139 |
2017 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The affected family members do not exhibit linkage to the 5 known RLS loci or mutations in the RLS susceptibility genes MEIS1 and BTBD9.
|
19181647 |
2009 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MEIS1 belongs to the homeobox containing transcriptional regulatory network (HOX).Work in <i>C. elegans</i> showed a link between the <i>MEIS1</i> ortholog and iron homeostasis, which is in line with the fact that central nervous system (CNS) iron insufficiency is thought to be a cause of RLS.
|
31551905 |
2019 |
Restless Legs Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data link MEIS1 loss of function to the etiopathology of RLS, highlight how combined sequencing and systematic functional annotation of rare variation at GWAS loci can detect risk burden, and offer a plausible explanation for the specificity of phenotypic expressivity of loss-of-function alleles at a locus broadly necessary for neurogenesis and neurodevelopment.
|
24995868 |
2014 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
|
17637780 |
2007 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Two case-control cohorts from Tel-Aviv and New-York, including 1133 PD patients and 867 controls were genotyped for four RLS-related SNPs in the genes MEIS1, BTBD9, PTPRD and MAP2K5/SKOR1.
|
25817513 |
2015 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
|
17637780 |
2007 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, our data confirms that MEIS1 is a genetic risk factor for the development of RLS, but it does not support the pleiotropic effect of MEIS1 in CID.
|
30215811 |
2018 |
Restless Legs Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Additional analyses favor the hypothesis that MEIS1 exhibits pleiotropy for insomnia and RLS and show that the observed association with insomnia complaints cannot be explained only by the presence of an RLS subgroup within the cases.
|
28604731 |
2017 |