The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1
Open accessAbstract
Restless legs syndrome (RLS) is a sensorimotor disorder with an age-dependent prevalence of up to 10% in the general population above 65 years of age. Affected individuals suffer from uncomfortable sensations and an urge to move in the lower limbs that occurs mainly in resting situations during the evening or at night. Moving the legs or walking leads to an improvement of symptoms. Concomitantly, patients report sleep disturbances with consequences such as reduced daytime functioning. We conducted a genome-wide association study (GWA) for RLS in 922 cases and 1,526 controls (using 301,406 SNPs) followed by a replication of 76 candidate SNPs in 3,935 cases and 5,754 controls, all of European ancestry. Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P = 9.03 × 10(-11), OR = 1.23) and a locus on 16q12.1 (rs3104767, P = 9.4 × 10(-19), OR = 1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767.
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Cites
Long non-coding RNAs: insights into functions
Mercer, T. R., Dinger, M. E., & Mattick, J. S. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2521 · Cited by 5,654
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · cited 1×
“Using the Genomic Control approach [22], we obtained an inflation factor l of 1.”
MethodRestless legs syndrome: diagnostic criteria, special considerations, and epidemiology
Allen, R. P., Picchietti, D., Hening, W. A., Trenkwalder, C., Walters, A. S., & Montplaisi, J. (2003) · Sleep Medicine · doi:10.1016/s1389-9457(03)00010-8 · Cited by 2,900
Self-citationVariance component model to account for sample structure in genome-wide association studies
Kang, H. M., Sul, J. H., Service, S. K., Zaitlen, N. A., Kong, S.-Y., Freimer, N. B., Sabatti, C., & Eskin, E. (2010) · Nature Genetics · doi:10.1038/ng.548 · Cited by 2,817
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Skol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286
Genomic Control to the extreme
Devlin, B., Bacanu, S.-A., & Roeder, K. (2004) · Nature Genetics · doi:10.1038/ng1104-1129 · Cited by 157
Cited by
Brain mechanisms of insomnia: new perspectives on causes and consequences
Van Someren, E. J. W. (2021) · Physiological Reviews · doi:10.1152/physrev.00046.2019 · Cited by 543
Restless legs syndrome associated with major diseases: A systematic review and new concept
Trenkwalder, C., Allen, R., Högl, B., Paulus, W., & Winkelmann, J. (2016) · Neurology · doi:10.1212/wnl.0000000000002542 · Cited by 373
Self-citationHu, Y., Shmygelska, A., Tran, D., Eriksson, N., Tung, J. Y., & Hinds, D. A. (2016) · Nature Communications · doi:10.1038/ncomms10448 · Cited by 321
Lane, J. M., Vlasac, I., Anderson, S. G., Kyle, S. D., Dixon, W. G., Bechtold, D. A., Gill, S., Little, M. A., Luik, A., Loudon, A., et al. (2016) · Nature Communications · doi:10.1038/ncomms10889 · Cited by 312
Hammerschlag, A. R., Stringer, S., de Leeuw, C. A., Sniekers, S., Taskesen, E., Watanabe, K., Blanken, T. F., Dekker, K., te Lindert, B. H. W., Wassing, R., et al. (2017) · Nature Genetics · doi:10.1038/ng.3888 · Cited by 289
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Metadata
- Authors
- Winkelmann, J., Czamara, D., Schormair, B., Knauf, F., Schulte, E. C., Trenkwalder, C., Dauvilliers, Y., Polo, O., Högl, B., Berger, K., Fuhs, A., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Xiong, L., Montplaisir, J., Rouleau, G. A., Fietze, I., Vávrová, J., Kemlink, D., Sonka, K., Nevsimalova, S., Lin, S.-C., Wszolek, Z., Vilariño-Güell, C., Farrer, M. J., Gschliesser, V., Frauscher, B., Falkenstetter, T., Poewe, W., Allen, R. P., Earley, C. J., Ondo, W. G., Le, W.-D., Spieler, D., Kaffe, M., Zimprich, A., Kettunen, J., Perola, M., Silander, K., Cournu-Rebeix, I., Francavilla, M., Fontenille, C., Fontaine, B., Vodicka, P., Prokisch, H., Lichtner, P., Peppard, P., Faraco, J., Mignot, E., Gieger, C., Illig, T., Wichmann, H.-E., Müller-Myhsok, B., & Meitinger, T.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2011-07-14
- Volume
- 7
- Issue
- 7
- Pages
- e1002171
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2170092556
- Cited by
- 193
- References
- 7
- FWCI
- 13.40
- Type
- journal article
- Language
- en
- Open access
- gold
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- Winkelmann, J., Czamara, D., Schormair, B., Knauf, F., Schulte, E. C., Trenkwalder, C., Dauvilliers, Y., Polo, O., Högl, B., Berger, K., Fuhs, A., Gross, N., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Xiong, L., Montplaisir, J., Rouleau, G. A., . . . Meitinger, T. (2011). Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1002171
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.