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Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
Lohmann, Katja; Schmidt, Alexander; Schillert, Arne et al.
2014In Movement Disorders, 29 (7), p. 921-7
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Keywords :
Arylsulfatases/genetics; Dystonic Disorders/genetics; Genetic Loci; Genetic Predisposition to Disease; Genetic Testing/methods; Genome-Wide Association Study; Humans; Psychomotor Performance/physiology; Risk; Risk Factors; association study; dystonia; risk factor; sulfatase
Abstract :
[en] Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients. We conducted a 2-stage genome-wide association study in whites. Genotypes at 557,620 single-nucleotide polymorphisms (SNPs) passed stringent quality control for 127 patients and 984 controls. Ten SNPs revealed P < 10(-5) and entered the replication phase including 116 MD patients and 125 healthy musicians. A genome-wide significant SNP (P < 5 x 10(-8) ) was also genotyped in 208 German or Dutch WD patients, 1,969 Caucasian, Spanish, and Japanese patients with other forms of focal or segmental dystonia as well as in 2,233 ethnically matched controls. Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 x 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 x 10(-2) ) but not with any other focal or segmental dystonia. The allele frequency of rs11655081 varies substantially between different populations. The population stratification in our sample was modest (lambda = 1.07), but the effect size may be overestimated. Using a small but homogenous patient sample, we provide data for a possible association of ARSG with MD. The variant may also contribute to the risk of WD, a form of dystonia that is often found in relatives of MD patients.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Lohmann, Katja
Schmidt, Alexander
Schillert, Arne
Winkler, Susen
Albanese, Alberto
Baas, Frank
Bentivoglio, Anna Rita
Borngraber, Friederike
Bruggemann, Norbert
Defazio, Giovanni
Del Sorbo, Francesca
Deuschl, Gunther
Edwards, Mark J.
Gasser, Thomas
Gomez-Garre, Pilar
Graf, Julia
Groen, Justus L.
Hagenah, Johann
Hemmelmann, Claudia
Jabusch, Hans-Christian
Kaji, Ryuji
Kasten, Meike
Kawakami, Hideshi
Kostic, Vladimir S.
Liguori, Maria
Mir, Pablo
Munchau, Alexander
Ricchiuti, Felicia
Schreiber, Stefan
Siegesmund, Katharina
Svetel, Marina
Tijssen, Marina A. J.
Valente, Enza Maria
Westenberger, Ana
Zeuner, Kirsten E.
Zittel, Simone
Altenmuller, Eckart
Ziegler, Andreas
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Title :
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
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Journal title :
Movement Disorders
Publisher :
John Wiley & Sons, Hoboken, United States - New York
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Peer Reviewed verified by ORBi
Commentary :
(c) 2013 International Parkinson and Movement Disorder Society.
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since 09 February 2016


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