Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease
Copyright policy )Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease
The expansion of a polymorphic CAG repeat in the HD gene encoding huntingtin has been identified as the major cause of Huntington's disease (HD) and determines 42-73% of the variance in the age-at-onset of the disease. Polymorphisms in huntingtin interacting or associated genes are thought to modify the course of the disease. To identify genetic modifiers influencing the age at disease onset, we searched for polymorphic markers in the GRIK2, TBP, BDNF, HIP1 and ZDHHC17 genes and analysed seven of them by association studies in 980 independent European HD patients. Screening for unknown sequence variations we found besides several silent variations three polymorphisms in the ZDHHC17 gene. These and polymorphisms in the GRIK2, TBP and BDNF genes were analysed with respect to their association with the HD age-at-onset. Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD.
- Istanbul University Turkey
- Université Libre de Bruxelles Belgium
- Erasmus Hospital Belgium
- Innsbruck Medical University Austria
- University of Würzburg Germany
Genetic modifiers, Carrier Proteins -- metabolism, Nerve Tissue Proteins -- genetics, TATA-Box Binding Protein -- metabolism, Huntington Disease -- metabolism, Receptors, Kainic Acid, Receptors, 80 and over, Age of Onset, Child, Huntington Disease -- epidemiology, Aged, 80 and over, Huntington Disease -- genetics, TATA-Box Binding Protein -- genetics, Huntingtin Protein, Adaptor Proteins, Nuclear Proteins, Huntington's disease, Sciences bio-médicales et agricoles, Middle Aged, Association study, DNA-Binding Proteins, Huntington Disease, Child, Preschool, DNA-Binding Proteins -- metabolism, Adult, Brain-Derived Neurotrophic Factor -- genetics, DNA-Binding Proteins -- genetics, Adolescent, Brain-Derived Neurotrophic Factor -- metabolism, Nerve Tissue Proteins, Genetic, Nerve Tissue Proteins -- metabolism, Humans, Polymorphism, Preschool, Adaptor Proteins, Signal Transducing, Aged, Kainic Acid -- genetics, Polymorphism, Genetic, RZ Other systems of medicine / orvostudomány egyéb területei, Brain-Derived Neurotrophic Factor, Signal Transducing, Age-at-onset, Carrier Proteins -- genetics, Nuclear Proteins -- metabolism, Carrier Proteins, Acyltransferases
Genetic modifiers, Carrier Proteins -- metabolism, Nerve Tissue Proteins -- genetics, TATA-Box Binding Protein -- metabolism, Huntington Disease -- metabolism, Receptors, Kainic Acid, Receptors, 80 and over, Age of Onset, Child, Huntington Disease -- epidemiology, Aged, 80 and over, Huntington Disease -- genetics, TATA-Box Binding Protein -- genetics, Huntingtin Protein, Adaptor Proteins, Nuclear Proteins, Huntington's disease, Sciences bio-médicales et agricoles, Middle Aged, Association study, DNA-Binding Proteins, Huntington Disease, Child, Preschool, DNA-Binding Proteins -- metabolism, Adult, Brain-Derived Neurotrophic Factor -- genetics, DNA-Binding Proteins -- genetics, Adolescent, Brain-Derived Neurotrophic Factor -- metabolism, Nerve Tissue Proteins, Genetic, Nerve Tissue Proteins -- metabolism, Humans, Polymorphism, Preschool, Adaptor Proteins, Signal Transducing, Aged, Kainic Acid -- genetics, Polymorphism, Genetic, RZ Other systems of medicine / orvostudomány egyéb területei, Brain-Derived Neurotrophic Factor, Signal Transducing, Age-at-onset, Carrier Proteins -- genetics, Nuclear Proteins -- metabolism, Carrier Proteins, Acyltransferases
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