Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
作者： Kristin Aaser Lunde , Janete Chung , Ingvild Dalen , Kenn Freddy Pedersen , Jan Linder
DOI: 10.1016/J.JALZ.2018.04.006
关键词: Glucocerebrosidase 、 Dementia 、 Survival analysis 、 Parkinson's disease 、 Genetic association 、 Neurology 、 Internal medicine 、 Hazard ratio 、 Medicine 、 Confidence interval
摘要: Abstract Introduction Both polymorphisms and mutations in glucocerebrosidase ( GBA ) may influence the development of dementia patients with Parkinson's disease. Methods Four hundred forty-two 419 controls were followed for 7 years. Dementia was diagnosed using established criteria. Participants analyzed genetic variants, including E326K, T369M, L444P. Associations between carrier status assessed Cox survival analysis. Results A total 12.0% disease carried a variant, nearly half (22/53) them progressed to during follow-up. Carriers deleterious (adjusted hazard ratio 3.81, 95% confidence interval 1.35 10.72; P = .011) or 1.79; 1.07 3.00; = .028) more rapidly than noncarriers. Discussion variants are great clinical relevance disease, especially due relatively higher frequency these alleles compared other risk alleles.
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