Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients.
Eur J Hum Genet. 2008-12-17; 17(6): 766-773
DOI: 10.1038/ejhg.2008.243
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1. Eur J Hum Genet. 2009 Jun;17(6):766-73. doi: 10.1038/ejhg.2008.243. Epub 2008 Dec
17.
Dopamine receptor D3 gene and essential tremor in large series of German, Danish
and French patients.
Lorenz D(1), Klebe S, Stevanin G, Thier S, Nebel A, Feingold J, Frederiksen H,
Denis E, Christensen K, Schreiber S, Brice A, Deuschl G, Dürr A.
Author information:
(1)Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel,
Kiel, Germany.
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.
DOI: 10.1038/ejhg.2008.243
PMCID: PMC2947106
PMID: 19092771 [Indexed for MEDLINE]