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Glucocerebrosidase variant T369M is not a risk factor for Parkinson's disease in Sweden.

Ran, Caroline (author)
Karolinska Institutet,Department of Neuroscience, Karolinska Institutet, Solna, Sweden
Brodin, Lovisa (author)
Karolinska Institutet,Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
Gellhaar, Sandra (author)
Karolinska Institutet,Department of Neuroscience, Karolinska Institutet, Solna, Sweden
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Westerlund, Marie (author)
Department of Neuroscience, Karolinska Institutet, Solna, Sweden
Fardell, Camilla (author)
Department of Pharmacology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Nissbrandt, Hans (author)
Department of Pharmacology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Söderkvist, Peter, 1953- (author)
Linköpings universitet,Medicinska fakulteten,Avdelningen för cellbiologi
Sydow, Olof (author)
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
Markaki, Ioanna (author)
Karolinska Institutet,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
Hertz, Ellen (author)
Academic Specialist Center Torsplan, Stockholm, Sweden
Wirdefeldt, Karin (author)
Karolinska Institutet,Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
Svenningsson, Per (author)
Karolinska Institutet,Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Academic Specialist Center Torsplan, Stockholm, Sweden
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 (creator_code:org_t)
Elsevier, 2022
2022
English.
In: Neuroscience Letters. - : Elsevier. - 0304-3940 .- 1872-7972. ; 784
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • INTRODUCTION: Genetic variants in the Beta-glucocerebrosidase gene (GBA1) is a known risk factor for Parkinson's disease. The GBA1 mutations L444P, N370S and many other have been shown to associate with the disease in populations with diverse background. Some GBA1 polymorphisms have a less pronounced effect, and their pathogenicity has been debated. We have previously found associations with L444P, N370S and E326K and Parkinson's disease in Sweden.METHOD: In this study we used pyrosequencing to genotype the T369M variant in a large Swedish cohort consisting of 1,131 patients with idiopathic Parkinson's disease, and 1,594 control subjects to evaluate the possibility of this variant conferring an increased risk for Parkinson's disease.RESULTS: The minor allele frequency was 2.15% in patients and 1.76% in controls. Statistical analysis showed that there was no significant difference in allele frequency between patients and control subjects, p-value 0.37, Odds Ratio 1.23 with a 95% confidence interval of 0.82-1.83.CONCLUSION: Our results suggest that T369M is not a risk factor for Parkinson's disease in the Swedish population.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

GBA
Gaucher disease
Genetic
Lysosome
Parkinson’s disease
Thr408Met
rs75548401

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art (subject category)

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