title: 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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of RLS in a US population.
authors.affiliation: Center for Cardiovascular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, OH, USA
authors.forename: Qinbo
authors.initials: Q
authors.lastname: Yang
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Qiuyun
authors.initials: Q
authors.lastname: Chen
authors.forename: Nancy
authors.initials: N
authors.lastname: Foldvary-Schaefer
authors.forename: William G
authors.initials: WG
authors.lastname: Ondo
authors.forename: Qing Kenneth
authors.initials: QK
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D055106:Genome-Wide Association Study; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D048671:MAP Kinase Kinase 5 / Q000235:genetics*; D008297:Male; D000075064:Myeloid Ecotropic Viral Integration Site 1 Protein; D009363:Neoplasm Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins; D012148:Restless Legs Syndrome / Q000453:epidemiology / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*; D014481:United States / Q000453:epidemiology
chemical_list: C522207:BTBD9 protein, human; D018398:Homeodomain Proteins; C000616391:MEIS1 protein, human; D000075064:Myeloid Ecotropic Viral Integration Site 1 Protein; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D014157:Transcription Factors; D048671:MAP Kinase Kinase 5; C482563:MAP2K5 protein, human