Journal ArticleDOI
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Barbara Schormair,David Kemlink,D. Roeske,Gertrud Eckstein,Lan Xiong,Peter Lichtner,Stephan Ripke,Claudia Trenkwalder,Alexander Zimprich,Karin Stiasny-Kolster,Wolfgang H. Oertel,Cornelius G. Bachmann,Walter Paulus,Birgit Högl,Birgit Frauscher,Viola Gschliesser,Werner Poewe,Ines Peglau,Pavel Vodicka,Jana Vavrova,Karel Sonka,Sona Nevsimalova,Jacques Montplaisir,Gustavo Turecki,Guy A. Rouleau,Christian Gieger,Thomas Illig,H-Erich Wichmann,Florian Holsboer,Bertram Müller-Myhsok,Thomas Meitinger,Juliane Winkelmann +31 more
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TLDR
This work identifies PTPRD as the fourth genome-wide significant locus for RLS, and two independent SNPs in the 5′ UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values.Abstract:
We identified association of restless legs syndrome (RLS) with PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values (rs4626664, P(nominal/lambda corrected) = 5.91 x 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) = 5.81 x 10(-9), OR = 1.31). This work identifies PTPRD as the fourth genome-wide significant locus for RLS.read more
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Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
Josephine Elia,Xiaowu Gai,Hongbo Xie,Juan C. Perin,Elizabeth A. Geiger,Joseph T. Glessner,Monica D’Arcy,R. Deberardinis,Edward C. Frackelton,Cecilia Kim,Francesca Lantieri,B. M. Muganga,Li-San Wang,Toshinobu Takeda,Eric F. Rappaport,Struan F.A. Grant,Struan F.A. Grant,Wade H. Berrettini,Marcella Devoto,Tamim H. Shaikh,Tamim H. Shaikh,Hakon Hakonarson,Hakon Hakonarson,Peter White,Peter White +24 more
TL;DR: It is suggested that rare inherited structural variations play an important role in ADHD development and a set of putative candidate genes for further study in the etiology of ADHD are indicated.
Journal ArticleDOI
The genetic and molecular regulation of sleep: from fruit flies to humans.
TL;DR: Findings have given valuable insights into the molecular underpinnings of sleep regulation and function that might lead the way to more efficient treatments for sleep disorders.
Journal ArticleDOI
Genetics of Sleep and Sleep Disorders
Amita Sehgal,Emmanuel Mignot +1 more
TL;DR: How unbiased, high-throughput screens in model organisms are uncovering sleep regulatory mechanisms and how pathways, such as the circadian clock network and specific neurotransmitter signals, have conserved effects on sleep from Drosophila to humans are described.
Journal ArticleDOI
Restless legs syndrome: pathophysiology, clinical presentation and management
TL;DR: Iron deficiency must be identified and treated by supplementation, both to improve RLS symptoms and to potentially lower the risk of augmentation.
Journal ArticleDOI
Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS
Manuel Mattheisen,Jack Samuels,Yuchuan Wang,Benjamin D. Greenberg,Abby J. Fyer,James T. McCracken,Daniel A. Geller,D. L. Murphy,James A. Knowles,Marco A. Grados,Mark A. Riddle,S. A. Rasmussen,Nicole C.R. McLaughlin,Erika L. Nurmi,Kathleen D. Askland,Hai-De Qin,Bernadette Cullen,John Piacentini,David L. Pauls,Oscar J. Bienvenu,S. E. Stewart,Kung-Yee Liang,Fernando S. Goes,Brion S. Maher,Ann E. Pulver,Yin Yao Shugart,David Valle,Christoph Lange,Gerald Nestadt +28 more
TL;DR: Assessment of comprehensively assessed OCD patients with an early age of OCD onset revealed association of IQCK and C16orf88, as well as OFCC1 and PTPRD, and follow-up analyses of genome-wide association study signals from a previously published OCD study identified significant enrichment.
References
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Journal ArticleDOI
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.
Richard P. Allen,Daniel L. Picchietti,Wayne A. Hening,Claudia Trenkwalder,Arthur S. Walters,Jacques Montplaisi +5 more
TL;DR: Modification of the criteria for the diagnosis of restless legs syndrome is modified to better reflect that increased body of knowledge, as well as to clarify slight confusion with the wording of the original criteria.
Journal ArticleDOI
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
Juliane Winkelmann,Barbara Schormair,Peter Lichtner,Stephan Ripke,Lan Xiong,Shapour Jalilzadeh,Stephany Fulda,Benno Pütz,Gertrud Eckstein,Stephanie Hauk,Claudia Trenkwalder,Alexander Zimprich,Karin Stiasny-Kolster,Wolfgang H. Oertel,Cornelius G. Bachmann,Walter Paulus,Ines Peglau,Ilonka Eisensehr,Jacques Montplaisir,Gustavo Turecki,Guy A. Rouleau,Christian Gieger,Thomas Illig,H-Erich Wichmann,Florian Holsboer,Bertram Müller-Myhsok,Thomas Meitinger +26 more
TL;DR: A genome-wide association study found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q.
Journal ArticleDOI
A genetic risk factor for periodic limb movements in sleep
Hreinn Stefansson,David B. Rye,Andrew A. Hicks,H. Petursson,Andres Ingason,Thorgeir E. Thorgeirsson,Stefan T Palsson,Thordur Sigmundsson,Albert P. Sigurdsson,Ingibjorg Eiriksdottir,Emilia Soebech,Donald L. Bliwise,Joseph M. Beck,Ami Rosen,Salina P. Waddy,Lynn Marie Trotti,Alex Iranzo,Madhav Thambisetty,Gudmundur A. Hardarson,Kristleifur Kristjansson,Larus J. Gudmundsson,Unnur Thorsteinsdottir,Augustine Kong,Jeffrey R. Gulcher,Daniel F. Gudbjartsson,Kari Stefansson +25 more
TL;DR: The inverse correlation of the variant with iron stores is consistent with the suspected involvement of iron depletion in the pathogenesis of the disease and is associated with susceptibility to periodic limb movements in sleep.
Journal ArticleDOI
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p
Shenghan Chen,Shenghan Chen,William G. Ondo,Shaoqi Rao,Shaoqi Rao,Lin Li,Lin Li,Qiuyun Chen,Qing Wang,Qing Wang +9 more
TL;DR: RLS is established as a highly heritable trait, a novel genetic locus for RLS is identified, and the assumption of an autosomal-dominant mode of inheritance is validated, which will facilitate further cloning and identification of the genes.
Journal ArticleDOI
Mammalian Motoneuron Axon Targeting Requires Receptor Protein Tyrosine Phosphatases σ and δ
TL;DR: RPTP-σ and RPTP-δ complement each other functionally during mammalian development, and reveal an essential contribution of RPTP/δ to appropriate motoneuron axon targeting during mammalian axonogenesis.
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