Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
BACKGROUND
Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.


METHODS
We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects.


RESULTS
Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07).


CONCLUSIONS
Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.
Lücking
Christoph-Burkhard
CB
Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
Chesneau
Véronique
V
Lohmann
Ebba
E
Verpillat
Patrice
P
Dulac
Cyprien
C
Bonnet
Anne-Marie
AM
Gasparini
Francesca
F
Agid
Yves
Y
Dürr
Alexandra
A
Brice
Alexis
A
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases