|
|
|
|
Genome-Wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
|
|
|
|
|
|
|
|
نویسنده
|
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. ,müller-myhsok b. ,meitinger t.
|
|
منبع
|
plos genetics - 2011 - دوره : 7 - شماره : 7
|
|
چکیده
|
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. © 2011 winkelmann et al.
|
|
|
|
|
آدرس
|
institute of human genetics,technische universität münchen,munich,germany,department of neurology,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, max planck institute of psychiatry,munich, Germany, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, department of neurology,technische universität münchen,munich, Germany, paracelsus-elena-hospital,kassel, Germany, unité du sommeil,service de neurologie,hôpital gui-de-chauliac,inserm u1061,montpellier, France, department of pulmonary medicine,tampere university hospital,tampere,finland,sleep research unit,university of turku,turku, Finland, department of neurology,innsbruck medical university,innsbruck, Austria, institute of epidemiology and social medicine,university münster,münster, Germany, institute of epidemiology and social medicine,university münster,münster, Germany, department of neurology,technische universität münchen,munich, Germany, somnomar,sleep research institute,marburg,germany,department of neurology,center of nervous diseases,philipps university,marburg, Germany, department of neurology,center of nervous diseases,philipps university,marburg, Germany, department of clinical neurophysiology,university of göttingen,göttingen, Germany, department of clinical neurophysiology,university of göttingen,göttingen, Germany, centre of excellence in neuromics,chum research centre and the department of medicine,university of montreal,montreal, Canada, laboratoire d'étude des maladies du cerveau,centre de recherche du chum,hôpital notre-dame,université de montréal,montréal,canada,centre d'étude du sommeil,hôpital du sacré-coeur de montréal,montréal, Canada, centre of excellence in neuromics,chum research centre and the department of medicine,university of montreal,montreal, Canada, charite - universitätsmedizin berlin interdisciplinary center of sleep medicine,berlin, Germany, department of neurology,1st faculty of medicine,charles university,prague, Czech Republic, department of neurology,1st faculty of medicine,charles university,prague, Czech Republic, department of neurology,1st faculty of medicine,charles university,prague, Czech Republic, department of neurology,1st faculty of medicine,charles university,prague, Czech Republic, centre for molecular medicine and therapeutics,university of british columbia,vancouver, Canada, centre for molecular medicine and therapeutics,university of british columbia,vancouver, Canada, centre for molecular medicine and therapeutics,university of british columbia,vancouver, Canada, centre for molecular medicine and therapeutics,university of british columbia,vancouver, Canada, department of neurology,innsbruck medical university,innsbruck, Austria, department of neurology,innsbruck medical university,innsbruck, Austria, department of neurology,innsbruck medical university,innsbruck, Austria, department of neurology,innsbruck medical university,innsbruck, Austria, department of neurology,johns hopkins university,baltimore,md, United States, department of neurology,johns hopkins university,baltimore,md, United States, department of neurology,baylor college of medicine,houston,tx, United States, department of neurology,baylor college of medicine,houston,tx, United States, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, department of neurology,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, department of neurology,medical university of vienna,vienna, Austria, institute for molecular medicine finland (fimm),university of helsinki,helsinki,finland,department of chronic disease prevention,national institute for health and welfare,helsinki, Finland, institute for molecular medicine finland (fimm),university of helsinki,helsinki,finland,department of chronic disease prevention,national institute for health and welfare,helsinki, Finland, institute for molecular medicine finland (fimm),university of helsinki,helsinki,finland,department of chronic disease prevention,national institute for health and welfare,helsinki, Finland, inserm,umr-s975,paris,france,centre de recherche institut du cerveau et de la moelle,cnrs 7225,paris,france,fédération des maladies du système nerveux,pitié - salpêtrière hospital,ap-hp,paris, France, inserm,umr-s975,paris,france,centre de recherche institut du cerveau et de la moelle,cnrs 7225,paris,france,fédération des maladies du système nerveux,pitié - salpêtrière hospital,ap-hp,paris, France, inserm,umr-s975,paris,france,centre de recherche institut du cerveau et de la moelle,cnrs 7225,paris,france,fédération des maladies du système nerveux,pitié - salpêtrière hospital,ap-hp,paris, France, inserm,umr-s975,paris,france,centre de recherche institut du cerveau et de la moelle,cnrs 7225,paris,france,fédération des maladies du système nerveux,pitié - salpêtrière hospital,ap-hp,paris, France, institute of experimental medicine,czech academy of sciences,prague, Czech Republic, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, department of population health sciences,university of wisconsin,madison,wi, United States, center for narcolepsy,stanford university,palo alto,ca, United States, center for narcolepsy,stanford university,palo alto,ca, United States, institute of genetic epidemiology,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, unit for molecular epidemiology,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany, institute of epidemiology i,helmholtz zentrum münchen - german research center for environmental health,neuherberg,germany,institute of medical informatics,biometry,and epidemiology,chair of epidemiology,ludwig-maximilians-universität,munich,germany,klinikum grosshadern,munich, Germany, max planck institute of psychiatry,munich, Germany, institute of human genetics,technische universität münchen,munich,germany,institute of human genetics,helmholtz zentrum münchen - german research center for environmental health,neuherberg, Germany
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Authors
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|