期刊
PARKINSONISM & RELATED DISORDERS
卷 24, 期 -, 页码 89-94出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2015.12.018
关键词
Cognitive function; Motor function; SNCA; MAPT; Parkinson's disease
资金
- Goldstar Award of University of New South Wales
- National Program of Basic Research of China [2011CB504104]
- National Natural Science Foundation [81371407]
Introduction: It is well known that alpha-synuclein (SNCA) and microtubule associated protein (MAPT) genes predispose individuals to develop Parkinson's disease (PD). However, whether these genes contribute to differences in the variable progression observed in PD is obscure. This study aims to evaluate the association of common variants in SNCA (rs11931074, rs894278) and MAPT (rs242557_H1c haplotype, rs3744456) genes with the severity and duration of motor and cognitive performance. Methods: 296 Chinese patients with PD were recruited from Shanghai Ruijin Hospital. Motor performance was assessed using the Unified Parkinson's Disease Rating Scale (UPDRS-III) and Hoehn &Yahar (H&Y) stages and cognitive performance using the Mini-Mental Status Examination (MMSE). Genetic associations were analysed using general linear modelling for severity and Cox regression analysis for duration to motor (UPDRS-III >= 36 or H&Y >= 3, average duration 13 years) and cognitive (MMSE<27, average duration 8 years) cutoffs, covarying for age and gender. Results: The severity of motor function associated with synergic interaction of SNCA (rs11931074) and MAPT (rs3744456) (p <= 0.05) while longer survival to the motor cutoff associated with SNCA (rs11931074/T, HR = 0.4, p = 0.03). Increased severity of cognitive function associated with MAPT (H1c haplotype, p = 0.05) with none of the risk alleles chosen associated with survival to the cognitiye cutoff (p > 0.05). Conclusion: Our findings add further data showing that common variants in SNCA and MAPT genes contribute to variability in progression of PD, with SNCA variants associating with motor progression while MAPT variants associated with clinical severity. (C) 2016 Elsevier Ltd. All rights reserved.
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