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1-Antichymotrypsin gene polymorphism and susceptibility to Parkinsons disease
From the Neurology Service (Drs. Muñoz, Obach, Martí, Pastor, and Tolosa) and Genetic Service (Drs. Oliva, Ezquerra, and Ballesta), Institut dInvestigaciones Biomèdiques August Pi i Sunyer, Hospital Clínic i Universitari, University of Barcelona, Spain.
Address correspondence and reprint requests to Dr. Rafael Oliva, Hospital Clínic de Barcelona Villarroel, 170, 08036 Barcelona, Spain; e-mail: oliva{at}medicina.ub.es
OBJECTIVE: To determine whether the
1-antichymotrypsin AA genotype (ACT-AA) confers susceptibility for developing Parkinsons disease (PD) in the Spanish population.
BACKGROUND: A correlation between the ACT-AA genotype and the risk of developing PD has been recently reported in the Japanese population.
METHODS: The ACT genotypes of 71 patients diagnosed with clinically definite PD were compared with those of 109 age-matched healthy control subjects.
RESULTS: The authors found that the ACT-AA polymorphism frequency was not increased significantly in the PD group (31%) compared with the control group (28.4%). The ACT allelic distribution was also similar for familial and sporadic PD, for female and male patients, and for the different clinical subtypes of PD. The age at onset of PD was significantly lower in the ACT-AA patients compared with non-ACT-AA patients. When the actual age was considered, the ACT-AA frequency was higher in PD patients
50 years old (50%) compared with that present in patients >50 years old (26.8%), but the same effect was found in control subjects.
CONCLUSIONS: The ACT-AA polymorphism is not related to an increased risk of developing PD in the Spanish population. The ACT-AA overrepresentation in PD and control subjects
50 years old suggests that this polymorphism could be associated with life-threatening conditions other than PD.
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