Медицинская библиотека · European journal of neurology · 2008

DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients.

Vitale C, Gulli R, Ciotti P, Scaglione C, Bellone E, Avanzino L, Lantieri F, Abbruzzese G, Martinelli P, Barone P, Mandich P

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Аннотация

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.

Для цитирования: Vitale C, Gulli R, Ciotti P, Scaglione C, Bellone E, Avanzino L, Lantieri F, Abbruzzese G, Martinelli P, Barone P, Mandich P. DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients.. European journal of neurology. 2008. DOI: 10.1111/j.1468-1331.2008.02164.x.

Предметные рубрики MeSH

Adult Aged Alleles Amino Acid Substitution Case-Control Studies Essential Tremor Female Gene Frequency Genetic Linkage Genetic Predisposition to Disease Genotype Humans Italy Male Middle Aged Polymorphism, Single Nucleotide Receptors, Dopamine D3

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