RGD Reference Report - A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism. - Rat Genome Database

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A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism.

Authors: Nicholl, DJ  Bennett, P  Hiller, L  Bonifati, V  Vanacore, N  Fabbrini, G  Marconi, R  Colosimo, C  Lamberti, P  Stocchi, F  Bonuccelli, U  Vieregge, P  Ramsden, DB  Meco, G  Williams, AC 
Citation: Nicholl DJ, etal., Neurology. 1999 Oct 22;53(7):1415-21.
RGD ID: 7488959
Pubmed: PMID:10534244   (View Abstract at PubMed)

OBJECTIVE: To determine whether reported genetic association of polymorphisms in the CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (GSTM1) genes with PD were evident in a population of 176 unrelated patients with sporadic PD and to extend these findings to other disease groups (familial PD [n = 30], ALS [n = 50], multiple system atrophy [n = 38], progressive supranuclear palsy [n = 35], and AD [n = 23]). METHODS: A combination of allele-specific PCR and analysis of restriction fragment length polymorphisms were performed. RESULTS: We genotyped 1,131 individuals. After matching each patient with a control subject by age, sex, ethnicity, and geographic origin, there was no association of any allele/genotype with any of the six disease groups. There was an increased frequency of NAT2 slow acetylators in the ALS group compared with controls (70% versus 50%; OR 2.33 [95% CI, 1.03 to 5.30]), but this was not significant after adjusting for multiple testing. CONCLUSIONS: This is one of the most extensive candidate gene studies performed in PD and the first time that some of these loci have been studied in multiple system atrophy and progressive supranuclear palsy. In contrast with previous studies, we found no role for these polymorphisms in the etiology of PD, ALS, multiple system atrophy, progressive supranuclear palsy, or AD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinson's disease no_associationIAGP 7488959DNA:deletion:cds (human)RGD 
Parkinson's disease no_associationISOGSTM1 (Homo sapiens)7488959; 7488959DNA:deletion:cds (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bradykinesia no_associationIAGP 7488959DNA:deletion:cds:RGD 
Resting tremor no_associationIAGP 7488959DNA:deletion:cds:RGD 
Rigidity no_associationIAGP 7488959DNA:deletion:cds:RGD 
Objects Annotated

Genes (Rattus norvegicus)
Gstm1  (glutathione S-transferase mu 1)

Genes (Mus musculus)
Gstm1  (glutathione S-transferase, mu 1)

Genes (Homo sapiens)
GSTM1  (glutathione S-transferase mu 1)

Objects referenced in this article
Gene Gstm2 glutathione S-transferase, mu 2 Mus musculus
Gene Gstm2 glutathione S-transferase mu 2 Rattus norvegicus

Additional Information