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    Sleep Med. 2011 Sep;12(8):800-4.

    Association studies of variants in MEIS1, BTBD9, and MAP2K5/SKOR1 with restless legs syndrome in a US population.

    Yang Q, Li L, Chen Q, Foldvary-Schaefer N, Ondo WG, Wang QK.

    Source

    Center for Cardiovascular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, OH, USA

    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

    PMID:
    21925394
    [PubMed - indexed for MEDLINE]

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