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A rare truncating m...
A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.
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- Buervenich, Silvia (author)
- Karolinska Institutet
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- Carmine, Andrea (author)
- Karolinska Institutet
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- Galter, Dagmar (author)
- Karolinska Institutet
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- Niazi Shahabi, Haydeh, 1966 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för fysiologi och farmakologi, Avdelningen för farmakologi,Institute of Physiology and Pharmacology, Dept of Pharmacology
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- Johnels, Bo, 1940 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för kliniska nervsjukdomar,Institute of Clinical Neurosciences, Section of Neurological Diseases
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- Holmberg, Björn (author)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för kliniska nervsjukdomar,Institute of Clinical Neurosciences, Section of Neurological Diseases
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- Ahlberg, Jarl, 1954 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för kliniska nervsjukdomar,Institute of Clinical Neurosciences, Section of Neurological Diseases
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- Nissbrandt, Hans, 1952 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för fysiologi och farmakologi, Avdelningen för farmakologi,Institute of Physiology and Pharmacology, Dept of Pharmacology
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Eerola, Johanna (author)
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Hellström, Olli (author)
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Tienari, Pentti J (author)
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Matsuura, Tohru (author)
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Ashizawa, Tetsuo (author)
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Wüllner, Ullrich (author)
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Klockgether, Thomas (author)
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Zimprich, Alexander (author)
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Gasser, Thomas (author)
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Hanson, Melissa (author)
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Waseem, Shamaila (author)
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Singleton, Andrew (author)
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McMahon, Francis J (author)
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Anvret, Maria (author)
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- Sydow, Olof (author)
- Karolinska Institutet
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- Olson, Lars (author)
- Karolinska Institutet
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(creator_code:org_t)
- American Medical Association (AMA), 2005
- 2005
- English.
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In: Archives of neurology. - : American Medical Association (AMA). - 0003-9942. ; 62:1, s. 74-8
- Related links:
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https://jamanetwork....
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- BACKGROUND: Alcohol dehydrogenases (ADHs) may be involved in the pathogenesis of neurodegenerative disorders because of their multiple roles in detoxification pathways and retinoic acid synthesis. In a previous study, significant association of an ADH class IV allele with Parkinson disease (PD) was found in a Swedish sample. PATIENTS: The previously associated single-nucleotide polymorphism plus 12 further polymorphisms in the ADH cluster on human chromosome 4q23 were screened for association in an extension of the original sample that now included 123 Swedish PD patients and 127 geographically matched control subjects. A rare nonsense single-nucleotide polymorphism in ADH1C (G78stop, rs283413) was identified in 3 of these patients but in no controls. To obtain sufficient power to detect a possible association of this rare variant with disease, we screened a large international sample of 1076 PD patients of European ancestry and 940 matched controls. RESULTS: The previously identified association with an ADH class IV allele remained significant (P<.02) in the extended Swedish study. Furthermore, in the international collaboration, the G78stop mutation in ADH1C was found in 22 (2.0%) of the PD patients but only in 6 controls (0.6%). This association was statistically significant (chi(2)(1) = 7.5; 2-sided P = .007; odds ratio, 3.25 [95% confidence interval, 1.31-8.05]). In addition, the G78stop mutation was identified in 4 (10.0%) of 40 Caucasian index cases with PD with mainly hereditary forms of the disorder. CONCLUSION: Findings presented herein provide further evidence for mutations in genes encoding ADHs as genetic risk factors for PD.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Fysiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Physiology (hsv//eng)
Keyword
- Adult
- Aged
- Alcohol Dehydrogenase
- chemistry
- classification
- genetics
- Alleles
- Case-Control Studies
- Chi-Square Distribution
- Chromosomes
- Human
- Pair 4
- genetics
- Codon
- Terminator
- genetics
- DNA Mutational Analysis
- European Continental Ancestry Group
- Exons
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Parkinson Disease
- genetics
- Polymorphism
- Single Nucleotide
- genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Buervenich, Silv ...
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Carmine, Andrea
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Galter, Dagmar
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Niazi Shahabi, H ...
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Johnels, Bo, 194 ...
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Holmberg, Björn
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show more...
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Ahlberg, Jarl, 1 ...
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Nissbrandt, Hans ...
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Eerola, Johanna
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Hellström, Olli
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Tienari, Pentti ...
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Matsuura, Tohru
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Ashizawa, Tetsuo
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Wüllner, Ullrich
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Klockgether, Tho ...
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Zimprich, Alexan ...
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Gasser, Thomas
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Hanson, Melissa
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Waseem, Shamaila
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Singleton, Andre ...
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McMahon, Francis ...
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Anvret, Maria
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Sydow, Olof
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Olson, Lars
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Physiology
- Articles in the publication
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Archives of neur ...
- By the university
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University of Gothenburg
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Karolinska Institutet