Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population
- PMID: 21925394
- PMCID: PMC3514407
- DOI: 10.1016/j.sleep.2011.06.006
Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population
Abstract
Background: A genome-wide association study (GWAS) identified significant association between variants in MEIS1, BTBD9, and MAP2K5/SKOR1 and restless legs syndrome (RLS). However, many independent replication studies are needed to unequivocally establish a valid genotype-phenotype association across various populations. 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.
Method: Both family-based and population-based case-control association studies were carried out.
Results: The family-based study showed that SNP rs1026732 in MAP2K5/SKOR1 was significantly associated with RLS (P=0.01). Case-control association studies showed significant association between all three variants and RLS (P=0.0001/OR=1.65, P=0.0021/OR=1.59, and P=0.0011/OR=1.55 for rs2300478, rs9357271, and rs1026732, respectively).
Conclusion: Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of RLS in a US population.
Copyright © 2011 Elsevier B.V. All rights reserved.
Comment in
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What's next after the exciting discovery and reassuring replications of genome-wide association studies of restless legs syndrome?Sleep Med. 2011 Sep;12(8):733-4. doi: 10.1016/j.sleep.2011.08.001. Epub 2011 Aug 31. Sleep Med. 2011. PMID: 21885332 No abstract available.
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