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

Sleep Medicine

Volumn 12, Issue 8, 2011, Pages 800-804

  Yang, Qinbo ^a,b,d   Li, Lin ^a,d   Chen, Qiuyun ^a,d   Foldvary Schaefer, Nancy ^a,d   Ondo, William G ^c   Wang, Qing Kenneth ^a,b,d  

^a LERNER RESEARCH INSTITUTE   (United States)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

BTBD; Genome wide association studies (GWAS); MAP2K5 SKOR1; MEIS1; Restless legs syndrome (RLS); Single nucleotide polymorphisms (SNP)

Indexed keywords

ARTICLE; BTBD9 GENE; CONTROLLED STUDY; FAMILY STUDY; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MAP2K5 GENE; MEIS1 GENE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RESTLESS LEGS SYNDROME; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SKOR1 GENE; UNITED STATES;

CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MAP KINASE KINASE 5; NEOPLASM PROTEINS; RESTLESS LEGS SYNDROME; RISK FACTORS; TRANSCRIPTION FACTORS; UNITED STATES;

EID: 80052962734     PISSN: 13899457     EISSN: 18785506     Source Type: Journal    
DOI: 10.1016/j.sleep.2011.06.006     Document Type: Article

References (43)

1. Allen R.P., Picchietti D., Hening W.A., Trenkwalder C., Walters A.S., Montplaisi J. Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Med 2003, 4:101-119.
2. Allen R.P., Earley C.J. The role of iron in restless legs syndrome. Mov Disord 2007, 22:S440-S448.
3. Manconi M., Rocca M.A., Ferini-Strambi L., et al. Restless legs syndrome is a common finding in multiple sclerosis and correlates with cervical cord damage. Mult Scler 2008, 14:86-93.
4. Kushida C.A., Geyer J., Tolson J.M., Asgharian A. Patient- and physician-rated measures demonstrate the effectiveness of ropinirole in the treatment of restless legs syndrome. Clin Neuropharmacol 2008, 31:281-286.
5. Earley C.J., Connor J.R., Beard J.L., Malecki E.A., Epstein D.K., Allen R.P. Abnormalities in CSF concentrations of ferritin and transferrin in restless legs syndrome. Neurology 2000, 54:1698-1700.
6. Connor J.R., Wang X.S., Patton S.M., et al. Decreased transferrin receptor expression by neuromelanin cells in restless legs syndrome. Neurology 2004, 62:1563-1567.
7. Ondo W.G. Restless legs syndrome. Neurol Clin 2009, 27:779-799.
8. Mignot E. A step forward for restless legs syndrome. Nat Genet 2007, 39:938-939.
9. Ondo W.G., Vuong K.D., Wang Q. Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 2000, 55:1404-1406.
10. Chen S., Ondo W.G., Rao S., Li L., Chen Q., Wang Q. Genomewide linkage scan identifies a novel susceptibility locus for restless legs syndrome on chromosome 9p. Am J Hum Genet 2004, 74:876-885.
11. Desautels A., Turecki G., Montplaisir J., Sequeira A., Verner A., Rouleau G.A. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2001, 69:1266-1270.
12. Bonati M.T., Ferini-Strambi L., Aridon P., Oldani A., Zucconi M., Casari G. Autosomal dominant restless legs syndrome maps on chromosome 14q. Brain 2003, 126:1485-1492.
13. Pichler I., Marroni F., Volpato C.B., et al. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. Am J Hum Genet 2006, 79:716-723.
14. Levchenko A., Provost S., Montplaisir J.Y., et al. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology 2006, 67:900-901.
15. Kemlink D., Plazzi G., Vetrugno R. Et al.Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 2008, 9:75-82.
16. Levchenko A., Montplaisir J.Y., Asselin G., et al. Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 2009, 24:40-50.
17. Winkelmann J., Schormair B., Lichtner P., et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet 2007, 39:1000-1006.
18. Schormair B., Kemlink D., Roeske D., et al. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 2008, 40:946-948.
19. Stefansson H., Rye D.B., Hicks A., et al. A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2007, 357:639-647.
20. Yang Q., Li L., Yang R., et al. Family-Based and Population-Based Association Studies Validate PTPRD as a Risk Factor for Restless Legs Syndrome. Mov Disord 2011, 26:516-519.
21. Vilariño-Güell C., Farrer M.J., Lin S.C. A genetic risk factor for periodic limb movements in sleep. N Engl J Med 2008, 358(4):425-427.
22. Kemlink D., Polo O., Frauscher B., et al. Replication of restless legs syndrome loci in three European populations. J Med Genet 2009, 46:315-318.
23. Allen R.P., Kushida C.A., Atkinson M.J. Factor analysis of the International Restless Legs Syndrome Study Group's scale for restless legs severity. Sleep Med 2003, 4:133-135.
24. Walters A.S. Toward a better definition of the restless legs syndrome. The International Restless Legs Syndrome Study Group. Mov Disord 1995, 10:634-642.
25. Shen G.Q., Li L., Girelli D.A., et al. LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. Am J Hum Genet 2007, 81:780-791.
26. Rodriguez S., Gaunt T.R., Day I.N. Hardy-Weinberg equilibrium testing of biological ascertainment for mendelian randomization studies. Am J Epidemiol. 2009, 169:505-514.
27. McGinnis R.E., Ewens W.J., Spielman R.S. The TDT reveals linkage and linkage disequilibrium in a rare disease. Genet Epidemiol 1995, 12:637-640.
28. Spielman R.S., Ewens W.J. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998, 62:450-458.
29. Argiropoulos B., Yung E., Humphries R.K. Unraveling the crucial roles of Meis1 in leukemogenesis and normal hematopoiesis. Genes Dev 2007, 21:2845-2849.
30. Mercader N., Tanaka E.M., Torres M. Proximodistal identity during vertebrate limb regeneration is regulated by Meis homeodomain proteins. Development 2005, 132:4131-4142.
31. Geerts D., Schilderink N., Jorritsma G., Versteeg R. The role of the MEIS homeobox genes in neuroblastoma. Cancer Lett 2003, 197:87-92.
32. Xiong L., Catoire H., Dion P., et al. MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet 2009, 18:1065-1074.
33. Vilariño-Güell C., Chai H., Keeling B.H., et al. MEIS1 p.R272H in familial restless legs syndrome. Neurology 2009, 73:243-245.
34. Stogios P.J., Downs G.S., Jauhal J.J., Nandra S.K., Privé G.G. Sequence and structural analysis of BTB domain proteins. Genome Biol 2005, 6:R82.
35. Jones B.C., Reed C.L., Hitzemann R., et al. Quantitative genetic analysisof ventral midbrain and liver iron in BXD recombinant inbred mice. Nutr Neurosci 2003, 6:369-377.
36. Zhou G., Bao Z.Q., Dixon J.E. Components of a new human protein kinase signal transduction pathway. J Biol Chem 1995, 270:12665-12669.
37. Dinev D., Jordan B.W., Neufeld B., et al. Extracellular signal regulated kinase 5 (ERK5) is required for the differentiation of muscle cells. EMBO Rep 2001, 2:829-834.
38. Widegren U., Ryder J.W., Zierath J.R. Mitogen-activated protein kinase signal transduction in skeletal muscle: effects of exercise and muscle contraction. Acta Physiol Scand 2001, 172:227-238.
39. Cavanaugh J.E., Jaumotte J.D., Lakoski J.M., Zigmond M.J. Neuroprotective role of ERK1/2 and ERK5 in a dopaminergic cell line under basal conditions and in response to oxidative stress. J Neurosci Res 2006, 84:1367-1375.
40. Benes H., Kurella B., Kummer J., Kazenwadel J., Selzer R., Kohnen R. Rapid onset of action of levodopa in restless legs syndrome: a double-blind, randomized, multicenter, crossover trial. Sleep 1999, 22:1073-1081.
41. Wetter T.C., Stiasny K., Winkelmann J., et al. A randomized controlled study of pergolide in patients with restless legs syndrome. Neurology 1999, 52:944-950.
42. Montplaisir J., Nicolas A., Denesle R., Gomez-Mancilla B. Restless legs syndrome improved by pramipexole: a double-blind randomized trial. Neurology 1999, 52:938-943.
43. Mizuhara E., Nakatani T., Minaki Y., Sakamoto Y., Ono Y. Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1. J Biol Chem 2005, 280:3645-3655.