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Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
Movement disorders, 2014-06, Vol.29 (7), p.921-927
Lohmann, Katja
Schmidt, Alexander
Schillert, Arne
Winkler, Susen
Albanese, Alberto
Baas, Frank
Bentivoglio, Anna Rita
Borngräber, Friederike
Brüggemann, Norbert
Defazio, Giovanni
Del Sorbo, Francesca
Deuschl, Günther
Edwards, Mark J.
Gasser, Thomas
Gómez-Garre, Pilar
Graf, Julia
Groen, Justus L.
Grünewald, Anne
Hagenah, Johann
Hemmelmann, Claudia
Jabusch, Hans-Christian
Kaji, Ryuji
Kasten, Meike
Kawakami, Hideshi
Kostic, Vladimir S.
Liguori, Maria
Mir, Pablo
Münchau, Alexander
Ricchiuti, Felicia
Schreiber, Stefan
Siegesmund, Katharina
Svetel, Marina
Tijssen, Marina A.J.
Valente, Enza Maria
Westenberger, Ana
Zeuner, Kirsten E.
Zittel, Simone
Altenmüller, Eckart
Ziegler, Andreas
Klein, Christine
2014
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Lohmann, Katja
Schmidt, Alexander
Schillert, Arne
Winkler, Susen
Albanese, Alberto
Baas, Frank
Bentivoglio, Anna Rita
Borngräber, Friederike
Brüggemann, Norbert
Defazio, Giovanni
Del Sorbo, Francesca
Deuschl, Günther
Edwards, Mark J.
Gasser, Thomas
Gómez-Garre, Pilar
Graf, Julia
Groen, Justus L.
Grünewald, Anne
Hagenah, Johann
Hemmelmann, Claudia
Jabusch, Hans-Christian
Kaji, Ryuji
Kasten, Meike
Kawakami, Hideshi
Kostic, Vladimir S.
Liguori, Maria
Mir, Pablo
Münchau, Alexander
Ricchiuti, Felicia
Schreiber, Stefan
Siegesmund, Katharina
Svetel, Marina
Tijssen, Marina A.J.
Valente, Enza Maria
Westenberger, Ana
Zeuner, Kirsten E.
Zittel, Simone
Altenmüller, Eckart
Ziegler, Andreas
Klein, Christine
Titel
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
Ist Teil von
Movement disorders, 2014-06, Vol.29 (7), p.921-927
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2014
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
ABSTRACT 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 × 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 × 10−9; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66‐7.05). rs11655081 was also associated with WD (P = 2.78 × 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 (λ = 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. © 2013 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.25791
Titel-ID: cdi_proquest_miscellaneous_1535623756
Format
–
Schlagworte
Arylsulfatases - genetics
,
association study
,
Confidence intervals
,
dystonia
,
Dystonic Disorders - genetics
,
Genes
,
Genetic Loci
,
Genetic Predisposition to Disease
,
Genetic Testing - methods
,
Genome-Wide Association Study
,
Genomes
,
Humans
,
Movement disorders
,
Musicians & conductors
,
Polymorphism
,
Psychomotor Performance - physiology
,
Risk
,
risk factor
,
Risk Factors
,
sulfatase
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