AlzGene

AlzGene - Polymorphism Details

Study:

Li, 2004

Gene:

ABCA1 (TGD; ABC1; CERP; ABC-1; HDLDT1)

Protein:

ATP-binding cassette, sub-family A member 1 (ATP binding cassette transporter 1; cholesterol efflux regulatory protein; high density lipoprotein deficiency, Tangier type, 1; ATP-binding cassette 1)

Chromosome:

9 (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: 9

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs2066718 (V771M)	USA (WashU)	AD CTR	0.04 0.03	0.96 0.97	1 (0.002) 2 (0.005)	29 (0.069) 17 (0.045)	389 (0.928) 358 (0.950)
Other/Mixed
rs2066718 (V771M)	UK	AD CTR	0.04 0.02	0.96 0.98	1 (0.003) 0 (0.000)	26 (0.073) 16 (0.041)	331 (0.925) 379 (0.959)
rs2066718 (V771M)	USA (UCSD)	AD CTR	0.04 0.04	0.96 0.96	0 (0.000) 1 (0.003)	17 (0.084) 28 (0.071)	186 (0.916) 365 (0.926)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs6479283	USA (WashU)	AD CTR	0.15 0.17	0.85 0.83	8 (0.021) 12 (0.035)	103 (0.265) 94 (0.272)	278 (0.715) 240 (0.694)
Other/Mixed
rs6479283	USA (UCSD)	AD CTR	0.17 0.16	0.83 0.84	6 (0.032) 13 (0.036)	51 (0.273) 86 (0.241)	130 (0.695) 258 (0.723)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		1-Allele	2-Allele	1/1 (frequency)	1/2 (frequency)	2/2 (frequency)
Caucasian
hcv2741108	USA (WashU)	AD CTR	0.03 0.03	0.97 0.97	0 (0.000) 0 (0.000)	22 (0.057) 22 (0.062)	367 (0.943) 331 (0.938)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs2777799	USA (WashU)	AD CTR	0.13 0.13	0.87 0.87	8 (0.020) 10 (0.028)	84 (0.215) 73 (0.207)	299 (0.765) 270 (0.765)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs2230808 (R1587K)	USA (WashU)	AD CTR	0.24 0.25	0.76 0.75	37 (0.088) 22 (0.059)	128 (0.305) 145 (0.386)	254 (0.606) 209 (0.556)

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
rs2066714 (I883M)	USA (WashU)	AD CTR	0.13 0.12	0.87 0.88	8 (0.019) 3 (0.008)	89 (0.213) 87 (0.231)	321 (0.768) 287 (0.761)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs2066715	USA (WashU)	AD CTR	0.04 0.06	0.96 0.94	0 (0.000) 0 (0.000)	37 (0.088) 42 (0.111)	382 (0.912) 335 (0.889)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs2230806 (R219K)	USA (WashU)	AD CTR	0.27 0.27	0.73 0.73	33 (0.079) 32 (0.085)	163 (0.390) 142 (0.378)	222 (0.531) 202 (0.537)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	G-Allele	A/A (frequency)	A/G (frequency)	G/G (frequency)
Caucasian
rs1883025	USA (WashU)	AD CTR	0.26 0.27	0.74 0.73	25 (0.064) 25 (0.070)	154 (0.395) 144 (0.406)	211 (0.541) 186 (0.524)

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