title: Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
abstract: The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D(3) receptor (DRD3), located in the ETM1 locus on chromosome 3q13.3 described for the first time in 1997. We examined this variant in three different populations from Germany, Denmark and France. We undertook an association study of the Ser9Gly variant in 202 cases with a familial history from unrelated families with ET, 97 cases with isolated non-familial ET and 528 healthy controls. In addition, linkage and segregation analyses were carried out in 22 ET families. The distribution of genotypes and allele frequencies showed no significant differences in the whole sample and in a subanalysis of familial and sporadic cases. Age at onset of tremor, tremor duration and tremor severity did not show an association with the genotype. In addition, the DRD3 variant was not found linked to the disease in a subset of informative ET families. We did not find a significant association of the DRD3 variant with ET nor linkage to the DRD3 receptor in German, Danish and French ET patients and families, suggesting that it is unlikely to be a causal factor for ET.
authors.affiliation: Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
authors.forename: Delia
authors.initials: D
authors.lastname: Lorenz
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Sandra
authors.initials: S
authors.lastname: Thier
authors.forename: Almut
authors.initials: A
authors.lastname: Nebel
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Henrik
authors.initials: H
authors.lastname: Frederiksen
authors.forename: Elodie
authors.initials: E
authors.lastname: Denis
authors.forename: Kaare
authors.initials: K
authors.lastname: Christensen
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Günther
authors.initials: G
authors.lastname: Deuschl
authors.forename: Alexandra
authors.initials: A
authors.lastname: Dürr
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003718:Denmark; D020329:Essential Tremor / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005602:France; D008040:Genetic Linkage; D014644:Genetic Variation; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D050637:Receptors, Dopamine D3 / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C493593:DRD3 protein, human; D050637:Receptors, Dopamine D3