RGD Reference Report - Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. - Rat Genome Database

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Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.

Authors: Nishioka, K  Vilarino-Guell, C  Cobb, SA  Kachergus, JM  Ross, OA  Wider, C  Gibson, RA  Hentati, F  Farrer, MJ 
Citation: Nishioka K, etal., Neurosci Lett. 2010 Jun 21;477(2):57-60. Epub 2009 Nov 27.
RGD ID: 5508429
Pubmed: PMID:19945510   (View Abstract at PubMed)
PMCID: PMC2970621   (View Article at PubMed Central)
DOI: DOI:10.1016/j.neulet.2009.11.066   (Journal Full-text)

Mutations in the glucocerebrosidase gene (GBA) have recently been associated with an increased risk of Parkinson disease (PD). GBA mutations have been observed to be particularly prevalent in the Ashkenazi Jewish population. Interestingly, this population also has a high incidence of the Lrrk2 p.G2019S mutation which is similar in North African Arab-Berber populations. Herein, our sequencing of the GBA gene, in 33 North African Arab-Berber familial parkinsonism probands, identified two novel mutations in three individuals (p.K-26R and p.K186R). Segregation analysis of these two variants did not support a pathogenic role. Genotyping of p.K-26R, p.K186R and the common p.N370S in an ethnically matched series consisting of 395 patients with PD and 372 control subjects did not show a statistically significant association (P>0.05). The p.N370S mutation was only identified in 1 sporadic patient with PD and 3 control subjects indicating that the frequency of this mutation in the North African Arab-Berber population is much lower than that observed in Ashkenazi Jews, and therefore arose in the latter after expansion of the Lrrk2 p.G2019S variant in North Africa.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Parkinson's disease no_associationIAGP 5508429DNA:missense mutations:cds:p.K-26R more ...RGD 
Parkinson's disease no_associationISOGBA1 (Homo sapiens)5508429; 5508429DNA:missense mutations:cds:p.K-26R more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bradykinesia no_associationIAGP 5508429DNA:mutations:cds:p.K-26R more ...RGD 
Parkinsonism no_associationIAGP 5508429DNA:missense mutations:cds:p.K-26R more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Gba1  (glucosylceramidase beta 1)

Genes (Mus musculus)
Gba1  (glucosylceramidase beta 1)

Genes (Homo sapiens)
GBA1  (glucosylceramidase beta 1)


Additional Information