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Parkinson disease and cytochrome P-450 CYP2D6 genetic polymorphism (CROSBI ID 479902)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija

Štefanović, Mario ; Topić, Elizabeta ; Ivanišević, Ana-Maria ; Relja, Maja ; Koršić, Marta Parkinson disease and cytochrome P-450 CYP2D6 genetic polymorphism // Biochemia Medica, vol 10, 6th Alps-Adria congress of clinical chemistry and laboratory medicine-abstracts / Suchanek, Ernest (ur.). Zagreb: Hrvatsko društvo za medicinsku biokemiju i laboratorijsku medicinu (HDMBLM), 2000. str. 119-20-x

Podaci o odgovornosti

Štefanović, Mario ; Topić, Elizabeta ; Ivanišević, Ana-Maria ; Relja, Maja ; Koršić, Marta

engleski

Parkinson disease and cytochrome P-450 CYP2D6 genetic polymorphism

We investigated the association of inactive CYP2D6 alleles *3, *4, *6, *7 and *8 with Parkinson disease (PD). Genotyping of the 41 patients and 145 healthy volunteers was performed by multiplex-allele specific PCR. Patient's phenotype was predicted from genotypes: extensive metabolizer (EM, two wild-type alleles), poor metabolizer (PM, two deficiency alleles) and intermediate metabolizer (IM, one deficiency and one wild type allele). Allelic frequencies among controls (1.4% 2D6*3 ; 11.0% *4 ; 1.0% *6) and PD group (1.2% 2D6*3 ; 20.7% *4 and 1.2% *6) did not differ significantly (pCHI=0.150). Genotype frequencies for the controls were 2.8% *3/wt, 18.6% *4/wt, 1.4% *4/*4, 1.4% *6/wt and 0.7% *4/*6, while in PD group we found 2.4% *3/wt, 26.8% *4/wt, 7.3% *4/*4, and 2.4% *6/wt. Significant difference was also not observed between groups (pCHI=0.247). PM phenotype distribution between controls and PD was different although not significantly (pCHI=0.093): IM and PM phenotype frequencies were 22.8% and 2.1% - among controls, while among PD patients were 31.7% and 7.3%, respectively. The odds ratio for IM and PM showed no statistical relevance: 1.58 (CI95%: 0.735-3.377) and 3.74 (CI95%: 0.799-17.479), respectively. Despite earlier proposed CYP2D6 mutant alleles genetic susceptibility to PD, results of this study do not confirm the association.

CYP2D6; Parkinson disease

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

119-20-x.

2000.

objavljeno

Podaci o matičnoj publikaciji

Biochemia Medica, vol 10, 6th Alps-Adria congress of clinical chemistry and laboratory medicine-abstracts

Suchanek, Ernest

Zagreb: Hrvatsko društvo za medicinsku biokemiju i laboratorijsku medicinu (HDMBLM)

Podaci o skupu

6th Alps-Adria congress of Clinical Chemistry and Laboratory Medicine

poster

15.06.2000-17.06.2000

Opatija, Hrvatska

Povezanost rada

Temeljne medicinske znanosti