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Replication of restless legs syndrome loci in three European populations
D Kemlink, O Polo, B Frauscher, V Gschliesser, B Hogl, W Poewe, P Vodicka, J Vavrova, K Sonka, S Nevsimalova, B Schormair, P Lichtner, K Silander, L Peltonen, C Gieger, HE Wichmann, A Zimprich, D Roeske, B Muller-Myhsok, T Meitinger, J Winkelmann
Language English Country England, Great Britain
Document type Multicenter Study, Research Support, Non-U.S. Gov't
Grant support
NR8563
MZ0
CEP Register
Digital library NLK
Full text - Část
Source
NLK
ProQuest Central
from 1994-01-01 to 6 months ago
Health & Medicine (ProQuest)
from 1994-01-01 to 6 months ago
- MeSH
- Adult MeSH
- Gene Frequency MeSH
- Genetic Predisposition to Disease MeSH
- Genotype MeSH
- Homeodomain Proteins genetics MeSH
- Polymorphism, Single Nucleotide * MeSH
- Middle Aged MeSH
- Humans MeSH
- MAP Kinase Kinase 5 genetics MeSH
- Neoplasm Proteins genetics MeSH
- Odds Ratio MeSH
- Repressor Proteins MeSH
- Aged MeSH
- Restless Legs Syndrome * genetics MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Finland MeSH
- Austria MeSH
BACKGROUND: 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. METHODS: Our study investigated these variants in 649 RLS patients and 1230 controls from the Czech Republic (290 cases and 450 controls), Austria (269 cases and 611 controls) and Finland (90 cases and 169 controls). Ten single nucleotide polymorphisms (SNPs) within the three genomic regions were selected according to the results of previous genome-wide scans. Samples were genotyped using Sequenom platforms. RESULTS: We replicated associations for all loci in the combined samples set (rs2300478 in MEIS1, p = 1.26 x 10(-5), odds ratio (OR) = 1.47, rs3923809 in BTBD9, p = 4.11 x 10(-5), OR = 1.58 and rs6494696 in MAP2K5/LBXCOR1, p = 0.04764, OR = 1.27). Analysing only familial cases against all controls, all three loci were significantly associated. Using sporadic cases only, we could confirm the association only with BTBD9. CONCLUSION: Our study shows that variants in these three loci confer consistent disease risks in patients of European descent. Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations and is also most independent of familial clustering.
Institute of Experimental Medicine Czech Academy of Sciences Prague Czech Republic
University Clinic Innsbruck Department of Neurology Innsbruck Austria
References provided by Crossref.org
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- $a Replication of restless legs syndrome loci in three European populations / $c D Kemlink, O Polo, B Frauscher, V Gschliesser, B Hogl, W Poewe, P Vodicka, J Vavrova, K Sonka, S Nevsimalova, B Schormair, P Lichtner, K Silander, L Peltonen, C Gieger, HE Wichmann, A Zimprich, D Roeske, B Muller-Myhsok, T Meitinger, J Winkelmann
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