期刊
NEUROBIOLOGY OF AGING
卷 37, 期 -, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2015.09.014
关键词
Parkinson disease; Age at onset; Motor progression; GBA; SNCA; MAPT
资金
- NINDS [NS075321, NS41509, NS058714, R01AG044546]
- Barnes Jewish Hospital Foundation (BJHF)
- American Parkinson Disease Association (APDA) Advanced Research Center for Parkinson Disease at Washington University in St. Louis
- Greater St. Louis Chapter of the APDA
- Barnes Jewish Hospital Foundation (Elliot Stein Family Fund)
- Barnes Jewish Hospital Foundation (Parkinson Disease Research Fund)
- Michael J. Fox Foundation for Parkinson's Research
- Alzheimer's Association
- Weston Brain Institute
- American Federation for Aging Research
- BrightFocus Foundation Alzheimer's Disease Research Grant [A2013359S]
- Abbvie
- Avid Radiopharmaceuticals
- Biogen Idec
- Bristol-Myers Squibb
- Covance
- GE Healthcare
- Genentech
- GlaxoSmithKline
- Lilly
- Lundbeck
- Merck
- Meso Scale Discovery
- Pfizer
- Piramal
- Roche
- UCB
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS041509, R01NS058714, R01NS075321] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [RF1AG044546, R01AG044546] Funding Source: NIH RePORTER
Multiple genetic variants have been linked to risk of Parkinson disease (PD), but known mutations do not explain a large proportion of the total PD cases. Similarly, multiple loci have been associated with PD risk by genome-wide association studies (GWAS). The influence that genetic factors confer on phenotypic diversity remains unclear. Few studies have been performed to determine whether the GWAS loci are also associated with age at onset (AAO) or motor progression. We used 2 PD case-control data sets (Washington University and the Parkinson's Progression Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression. We found associations between single nucleotide polymorphisms at the GBA and MAPT loci and PD AAO and progression. These findings reinforce the complex genetic basis of PD and suggest that distinct genes and variants explain the genetic architecture of PD risk, onset, and progression. (C) 2016 Elsevier Inc. All rights reserved.
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