AlzGene

AlzGene - Polymorphism Details

Study:

Dermaut, 2002

Gene:

NCSTN (APH2; KIAA0253)

View on SZGene

Protein:

nicastrin

Chromosome:

1 (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 18 April 2011

Total number of polymorphisms investigated by this study: 5

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	A-Allele	G/G (frequency)	G/A (frequency)	A/A (frequency)
Caucasian
rs12239747 (L212L)	Netherlands	AD CTR	0.04 0.04	0.96 0.96	0 (0.000) 0 (0.000)	27 (0.077) 24 (0.080)	323 (0.923) 277 (0.920)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	C-Allele	G/G (frequency)	G/C (frequency)	C/C (frequency)
Caucasian
rs7528638 (-5 intron 10)	Netherlands	AD CTR	0.05 0.04	0.95 0.96	0 (0.000) 0 (0.000)	33 (0.094) 27 (0.078)	317 (0.906) 321 (0.922)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	C-Allele	G/G (frequency)	G/C (frequency)	C/C (frequency)
Caucasian
rs2274185 (18 intron 6)	Netherlands	AD CTR	0.04 0.05	0.96 0.95	0 (0.000) 1 (0.003)	28 (0.079) 30 (0.091)	325 (0.921) 300 (0.906)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	T-Allele	A/A (frequency)	A/T (frequency)	T/T (frequency)
Caucasian
N417Y	Netherlands	AD CTR	- -	- -	0 (-) 0 (-)	0 (-) 0 (-)	0 (-) 0 (-)

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

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		C-Allele	G-Allele	C/C (frequency)	C/G (frequency)	G/G (frequency)
Caucasian
rs17370539 (-119 intron 16)	Netherlands	AD CTR	0.07 0.05	0.93 0.95	2 (0.006) 0 (0.000)	41 (0.124) 31 (0.105)	287 (0.870) 264 (0.895)

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

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