AlzGene

AlzGene - Polymorphism Details

Study:

Bertram, 2004

Gene:

PSENEN (PEN2; MDS033; MSTP064; PEN-2; U2AF1L3)

Protein:

presenilin enhancer 2 (pen-2; presenilin enhancer 2 homolog (C. elegans))

Chromosome:

19 (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 5 January 2010

Total number of polymorphisms investigated by this study: 4

Family-Based Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		C-Allele	T-Allele	C/C (frequency)	C/T (frequency)	T/T (frequency)
Other/Mixed
rs3761087 (promoter I)	USA (NIMH)	AD CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	C-Allele	A/A (frequency)	A/C (frequency)	C/C (frequency)
Other/Mixed
rs2293687 (promoter II)	USA (NIMH)	AD CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Other/Mixed
rs231238 (3'UTR)	USA (NIMH)	AD CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	C-Allele	G/G (frequency)	G/C (frequency)	C/C (frequency)
Other/Mixed
rs2293688 (intron 2)	USA (NIMH)	AD CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

(-) : Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

AlzGene Recent Updates

AlzGene Top Results

Top Results Details

1.	APOE_e2/3/4
2.	BIN1
3.	CLU
4.	ABCA7
5.	CR1
6.	PICALM
7.	MS4A6A
8.	CD33
9.	MS4A4E
10.	CD2AP

AlzGene Stats

Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320

Proud supporter of the AlzGene database.

The PDGene database is supported by a grant from The Michael J. Fox Foundation in partnership with the Alzheimer Research Forum.

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The National Cell Repository for Alzheimer Disease seeks to recruit 1,000 families with two or more living brothers or sisters who have been diagnosed with late onset Alzheimer’s disease.

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