AlzGene

AlzGene - Polymorphism Details

Study:

Harold, 2003

Gene:

CHAT (CMS1A; CMS1A2)

View on SZGene

Protein:

choline acetyltransferase

Chromosome:

10 (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: 14

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
rs3810950 (A120T)	UK (I)	AD CTR	0.28 0.25	0.72 0.75	11 (0.084) 6 (0.051)	51 (0.389) 47 (0.398)	69 (0.527) 65 (0.551)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		G-Allele	T-Allele	G/G (frequency)	G/T (frequency)	T/T (frequency)
Caucasian
rs3729496 (-1045T>G)	UK (I)	AD CTR	0.22 0.27	0.78 0.73	6 (0.049) 10 (0.093)	41 (0.336) 39 (0.361)	75 (0.615) 59 (0.546)
rs3729496 (-1045T>G)	UK (II)	AD CTR	0.22 0.20	0.78 0.80	9 (0.080) 4 (0.035)	31 (0.277) 37 (0.325)	72 (0.643) 73 (0.640)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs8178988 (-1803C>T)	UK (I)	AD CTR	0.14 0.13	0.86 0.87	1 (0.015) 2 (0.023)	17 (0.250) 18 (0.207)	50 (0.735) 67 (0.770)

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
rs8178984 (-220C>G)	UK (I)	AD CTR	0.11 0.08	0.89 0.92	2 (0.017) 2 (0.018)	21 (0.178) 14 (0.126)	95 (0.805) 95 (0.856)
rs8178984 (-220C>G)	UK (II)	AD CTR	0.12 0.09	0.88 0.91	1 (0.007) 0 (0.000)	31 (0.230) 24 (0.180)	103 (0.763) 109 (0.820)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs7076926 (40912C>T)	UK (II)	AD CTR	0.11 0.09	0.89 0.91	2 (0.015) 0 (0.000)	25 (0.187) 23 (0.174)	107 (0.799) 109 (0.826)
rs7076926 (40912C>T)	UK (I)	AD CTR	0.07 0.10	0.93 0.90	1 (0.009) 2 (0.018)	14 (0.121) 19 (0.173)	101 (0.871) 89 (0.809)

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
rs7094421 (41388A>G)	UK (I)	AD CTR	0.48 0.53	0.52 0.47	35 (0.269) 32 (0.271)	56 (0.431) 60 (0.508)	39 (0.300) 26 (0.220)

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
rs7903315 (-44C>G)	UK (I)	AD CTR	0.21 0.26	0.79 0.74	6 (0.047) 10 (0.085)	43 (0.333) 42 (0.359)	80 (0.620) 65 (0.556)
rs7903315 (-44C>G)	UK (II)	AD CTR	0.21 0.19	0.79 0.81	9 (0.077) 4 (0.035)	32 (0.274) 36 (0.313)	76 (0.650) 75 (0.652)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		A-Allele	C-Allele	A/A (frequency)	A/C (frequency)	C/C (frequency)
Caucasian
-5228C>A	UK (I)	AD CTR	0.02 0.01	0.98 0.99	0 (0.000) 0 (0.000)	4 (0.041) 3 (0.029)	94 (0.959) 99 (0.971)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		n.a.-Allele	n.a.-Allele	n.a./n.a. (frequency)	n.a./n.a. (frequency)	n.a./n.a. (frequency)
Caucasian
7786 VNTR	UK (I)	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		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs8178990 (7936C>T)	UK (I)	AD CTR	0.05 0.07	0.95 0.93	0 (0.000) 0 (0.000)	12 (0.102) 16 (0.142)	106 (0.898) 97 (0.858)
rs8178990 (7936C>T)	UK (II)	AD CTR	0.07 0.05	0.93 0.95	1 (0.007) 0 (0.000)	18 (0.133) 13 (0.098)	116 (0.859) 120 (0.902)
rs8178990 (7936C>T)	UK (III)	AD CTR	0.07 0.09	0.93 0.91	0 (0.000) 1 (0.005)	25 (0.138) 34 (0.173)	156 (0.862) 161 (0.821)

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
rs1880676 (1882G>A)	UK (III)	AD CTR	0.26 0.20	0.74 0.80	12 (0.062) 3 (0.014)	77 (0.397) 79 (0.378)	105 (0.541) 127 (0.608)
rs1880676 (1882G>A)	UK (II)	AD CTR	0.27 0.30	0.73 0.70	8 (0.059) 9 (0.067)	56 (0.415) 62 (0.459)	71 (0.526) 64 (0.474)
rs1880676 (1882G>A)	UK (I)	AD CTR	0.32 0.23	0.68 0.77	9 (0.132) 3 (0.035)	25 (0.368) 33 (0.388)	34 (0.500) 49 (0.576)

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
rs2377871 (32248G>A)	UK (I)	AD CTR	0.06 0.08	0.94 0.92	2 (0.016) 1 (0.009)	10 (0.079) 16 (0.138)	114 (0.905) 99 (0.853)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		T-Allele	C-Allele	T/T (frequency)	T/C (frequency)	C/C (frequency)
Caucasian
rs733722 (-5293C>T)	UK (II)	AD CTR	0.25 0.22	0.75 0.78	6 (0.051) 3 (0.026)	46 (0.393) 45 (0.385)	65 (0.556) 69 (0.590)
rs733722 (-5293C>T)	UK (I)	AD CTR	0.19 0.21	0.81 0.79	7 (0.054) 7 (0.060)	35 (0.269) 34 (0.291)	88 (0.677) 76 (0.650)

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
rs868750 (11604G>A)	UK (I)	AD CTR	0.23 0.15	0.77 0.85	8 (0.067) 2 (0.017)	39 (0.328) 31 (0.267)	72 (0.605) 83 (0.716)
rs868750 (11604G>A)	UK (III)	AD CTR	0.20 0.23	0.80 0.77	5 (0.024) 8 (0.036)	75 (0.359) 84 (0.378)	129 (0.617) 130 (0.586)
rs868750 (11604G>A)	UK (II)	AD CTR	0.19 0.15	0.81 0.85	5 (0.037) 3 (0.023)	42 (0.311) 33 (0.252)	88 (0.652) 95 (0.725)

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