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Researchers from Medical University Detail New Studies and Findings in the Area of Genetics and Dystonia (Genome-Wide Association Study in Musician's...

July 25, 2014



Researchers from Medical University Detail New Studies and Findings in the Area of Genetics and Dystonia (Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?)

By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Data detailed on Nervous System Diseases and Conditions have been presented. According to news originating from Lubeck, Germany, by NewsRx correspondents, research stated, "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."

Our news journalists obtained a quote from the research from Medical University, "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."

According to the news editors, the research concluded: "The variant may also contribute to the risk of WD, a form of dystonia that is often found in relatives of MD patients."

For more information on this research see: Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus? Movement Disorders, 2014;29(7):921-927. Movement Disorders can be contacted at: Wiley-Blackwell, 111 River St, Hoboken 07030-5774, NJ, USA. (Wiley-Blackwell - www.wiley.com/; Movement Disorders - onlinelibrary.wiley.com/journal/10.1002/(ISSN)1531-8257)

The news correspondents report that additional information may be obtained from K. Lohmann, Medical University of Lubeck, Center Clin Trials, D-23538 Lubeck, Germany. Additional authors for this research include A. Schmidt, A. Schillert, S. Winkler, A. Albanese, F. Baas, A.R. Bentivoglio, F. Borngraber, N. Bruggemann, G. Defazio, F. Del Sorbo, G. Deuschl, M.J. Edwards, T. Gasser, P. Gomez-Garre, J. Graf, J.L. Groen, A. Grunewald and Ha (see also Nervous System Diseases and Conditions).

Keywords for this news article include: Lubeck, Europe, Germany, Dystonia, Genetics, Dyskinesias, Neurologic Manifestations, Nervous System Diseases and Conditions

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2014, NewsRx LLC


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Source: Genomics & Genetics Weekly


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