DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients.
BACKGROUND
Essential tremor (ET) is the most common movement disorder worldwide. Three susceptibility loci on chromosomes 3q13, 2p24.1, and 6p23 have been reported, but no causative genes were found. The Ser9Gly variant of dopamine D3 receptor (DRD3) receptor was found associated to ET in a French and US population.


METHODS
A case-control study to evaluate the association between the Ser9Gly variant and ET was performed in a cohort of 116 Italian patients with familial ET and in 158 normal controls.


RESULTS
No significant difference in allele and genotype frequencies was found between the two groups.


CONCLUSIONS
These results do not support an association between DRD3 Ser9Gly and susceptibility to ET in Italian patients.
Vitale
C
C
Department of Neurological Sciences, Institute of Diagnosis e Therapy, University Federico II, Naples.
Gulli
R
R
Ciotti
P
P
Scaglione
C
C
Bellone
E
E
Avanzino
L
L
Lantieri
F
F
Abbruzzese
G
G
Martinelli
P
P
Barone
P
P
Mandich
P
P
D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D020329:Essential Tremor / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050637:Receptors, Dopamine D3 / Q000235:genetics*
C493593:DRD3 protein, human; D050637:Receptors, Dopamine D3