期刊
NATURE GENETICS
卷 43, 期 7, 页码 699-U125出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.859
关键词
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资金
- CurePSP Foundation
- Peebler PSP Research Foundation
- US National Institutes of Health (NIH) (National Institute on Aging (NIA)/NIH) [R37 AG 11762, R01 PAS-03-092, P50 NS72187, P01 AG17216]
- US National Institutes of Health (NIH) (National Institute of Mental Health (NIMH) [MH057881, MH077930]
- NIA
- German National Genome Research Network [01GS08136-4]
- Deutsche Forschungsgemeinschaft [HO 2402/6-1]
- Prinses Beatrix Fonds [01-0128]
- Reta Lila Weston Trust
- UK Medical Research Council [G0501560, G0400074]
- Newcastle National Institute for Health Research (NIHR) Biomedical Research Centre in Ageing and Age Related Diseases
- Alzheimer's Society
- Alzheimer's Research Trust
- TELETHON Italy [GTB07001]
- Fondazione Grigioni per il Morbo di Parkinson
- Wellcome Trust
- Howard Hughes Medical Institute
- Canadian Institute of Health Research
- Federal Ministry of Education and Research (BMBF) [01GI0505]
- PSP (Europe) Association
- Cure PSP+
- NIH/NINDS [1RC2NS070276, NS057567, P50NS072187]
- Mayo Clinic Florida (MCF) Research Committee [90052030]
- Government of Navarra
- Division of Neuroscience, NIA
- Division of Aging Biology and the Division of Geriatrics and Clinical Gerontology, NIA
- National Human Genome Research Institute (NHGRI) [U01HG004608]
- National Institute for General Medical Sciences (NIGMS)
- Marshfield Clinic, Health Resources Service Administration Office of Rural Health Policy [D1A RH00025]
- Wisconsin Department of Commerce [TDF FYO10718]
- NIH [U01HG004438]
- Alzheimers Research UK [ART-PG2010-1, ART-PPG2011A-14, ART-PhD2007-2] Funding Source: researchfish
- Medical Research Council [G0900652, G0700943, G0701075, G0701441, G0502157, G0400074, MC_G1000734, G0501560, G0600676] Funding Source: researchfish
- MRC [G0701075, G0501560, G0600676, G0701441, G0900652, G0502157, MC_G1000734, G0400074, G0700943] Funding Source: UKRI
Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P <= 10(-3). We found significant previously unidentified signals (P < 5 x 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.
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