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Christoph-Burkhard Lücking, MD; Véronique Chesneau, BS; Ebba Lohmann, MD; Patrice Verpillat, MD, PhD; Cyprien Dulac, BS; Anne-Marie Bonnet, MD; Francesca Gasparini, MD; Yves Agid, MD, PhD; Alexandra Dürr, MD, PhD; Alexis Brice, MD

Arch Neurol. 2003;60:1253-1256.

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.

Patients  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.

From the Institut National de la Santé et de la Recherche Médicale, Unit 289 (Drs Lücking, Lohmann, Verpillat, Bonnet, Gasparini, Agid, Dürr, and Brice; Ms Chesneau; and Mr Dulac), Département de Génétique, Cytogénétique et Embryologie (Drs Dürr and Brice), and Fédération de Neurologie (Drs Bonnet, Gasparini, Agid, and Brice), Hôpital de la Salpêtrière, Assistance Publique–Hôpitaux de Paris, Paris, France. Dr Lücking is now affiliated with Neurologische Klinik der Ludwig-Maximilians Universität, Klinikum Großhadern, Münich, Germany.

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