ALSGene

Gene overview of all published ALS-association studies for PSEN1

Gene:

PSEN1 (AD3; FAD; PS1; S182)

View on AlzGene View on SZGene

Protein:

presenilin 1 (OTTHUMP00000180591; PS-1; presenilin-1)

Chromosome:

14 (View: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y MT)

Status:

Updated 28 June 2011

1. Case-Control Studies (by ethnic group)
				ALS Cases				Normal Controls
Study	Population	Source	# Polys	# Subjects (% women)	DX	Onset Age (range)	Age (range)	# Subjects (% women)	Age (range)	Result
Caucasian
Panas, 2000	Greece	CL	1 (detail)	72 (46%)	Escorial 1	57.6 + 13 (27-72)	-	213 (33%)	35.1 + 11.3 (19-60)	Positive

Contact us if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Source:  Source of case population -> “CL” (clinic-based) or “PO” (population-based)
# Polys:  Number of polymorphisms tested per gene and per sample.
Onset Age and Age:  Onset Age and Age: Mean or median age at onset or examination, respectively.
DX:  Criteria used to determine ALS diagnosis -> "Escorial 1" (El Escorial World Federation of Neurology criteria, 1994), " Escorial 2" (Revised El Escorial World Federation of Neurology criteria, 1998), "Escorial 1+2" (El Escorial World Federation of Neurology criteria, 1994 and 1998), "Escorial" (Undefined El Escorial criteria), "Escorial+N" (Escorial Criteria, supported by neuropathological diagnosis), "O/M" (other/mixed), "Unknown" (Diagnostic criteria not specified).
Result:  Result: Overall conclusion reached by authors of the original publication (“positive” usually indicates significant association in at least one of the performed analyses, and “negative” indicates no evidence for significant association, while “trend” indicates results in between).
(-) :  No data provided.





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ALSGene Recent Updates
ALSGene Stats Studies: 130 Genes: 110 Polymorphisms: 379 Meta-analyses: 21
ALS Mutation Databases ALSoD curated by the Institute of Psychiatry of the King's College London ALS mutations database curated by the University of Tokyo AD&FTDMDB curated by the VIB Department of Molecular Genetics of the University of Antwerp





			ALSGene
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			An up-to-date collection of all published genetic association studies.









			The ALSGene database is supported by a grant from Prize4Life in partnership with the Alzheimer Research Forum.