Family-based and population-based association studies validate PTPRD as a risk factor for restless legs syndrome

Movement Disorders

Volumn 26, Issue 3, 2011, Pages 516-519

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

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b LERNER RESEARCH INSTITUTE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Case control association study; Family based association study; PTPRD gene; Restless legs syndrome; Sibling transmission disequilibrium test

Indexed keywords

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EUROPEAN AMERICAN; EXON; FAMILY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; RESTLESS LEGS SYNDROME; RISK FACTOR; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

CHI-SQUARE DISTRIBUTION; CHROMOSOMES, HUMAN, PAIR 9; COHORT STUDIES; COMMUNITY HEALTH PLANNING; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR-LIKE PROTEIN TYROSINE PHOSPHATASES, CLASS 2; RESTLESS LEGS SYNDROME; RISK FACTORS;

EID: 79953279483     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23459     Document Type: Article

References (25)

1. Walters AS, LeBrocq C, Dhar A, et al. Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome. Sleep Med 2003; 4: 121-132.
2. Chahine LM, Chemali ZN. Restless legs syndrome: a review. CNS Spectr 2006; 11: 511-520.
3. Mignot E. A step forward for restless legs syndrome. Nat Genet 2007; 39: 938-939.
4. Ondo WG, Vuong KD, Wang Q. Restless legs syndrome in monozygotic twins: clinical correlates. Neurology 2000; 55: 1404-1406.
5. Chen S, Ondo WG, 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.
6. Desautels A, Turecki G, Montplaisir J, Sequeira A, Verner A, Rouleau GA. Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2001; 69: 1266-1270.
7. Bonati MT, 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.
8. Pichler I, Marroni F, Volpato CB, 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.
9. Levchenko A, Provost S, Montplaisir JY, et al. A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13. Neurology 2006; 67: 900-901.
10. Levchenko A, Montplaisir JY, Asselin G, et al. Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 2009; 24: 40-50.
11. 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.
12. Allen RP, Kushida CA, Atkinson MJ. Factor analysis of the International Restless Legs Syndrome Study Group's scale for restless legs severity. Sleep Med 2003; 4: 133-135.
13. Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, 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.
14. Walters AS. Toward a better definition of the restless legs syndrome. The International Restless Legs Syndrome Study Group. Mov Disord 1995; 10: 634-642.
15. Shen GQ, Li L, Girelli DA, et al. LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. Am J Hum Genet 2007; 81: 780-791.
16. Shen GQ, Abdullah KG, Wang QK. The TaqMan method for SNP genotyping. Methods Mol Biol 2009; 578: 293-306.
17. Abdullah KG, Li L, Shen GQ, et al. Four SNPS on chromosome 9p21 confer risk to premature, familial CAD and MI in an American Caucasian population (GeneQuest). Ann Hum Genet 2008; 72: 654-657.
18. Hu Y, Li L, Seidelmann SB, et al. Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program. Ann Hum Genet 2008; 72: 636-643.
19. Zhang X, Chen S, Yoo S, et al. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 2008; 135: 1017-1027.
20. Du W, Bautista JF, Yang H, et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005; 37: 733-738.
21. Tian XL, Kadaba R, You SA, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004; 427: 640-645.
22. Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol 2009; 169: 505-514.
23. McGinnis RE, Ewens WJ, Spielman RS. The TDT reveals linkage and linkage disequilibrium in a rare disease. Genet Epidemiol 1995; 12: 637-640.
24. Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998; 62: 450-458.
25. Bonnen PE, Wang PJ, Kimmel M, Chakraborty R, Nelson DL. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res 2002; 12: 1846-1853.