Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE Our findings are consistent with the results of the meta-analytical studies of the relationship between rs3810950 polymorphism and AD and provide further material evidence for a direct (primary) involvement of cholinergic mechanisms in the etiopathogenesis of AD, particularly as a factor in cognitive decline and perturbed conscious awareness commonly observed in patients with AD. 29759072

2018

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE The rs3810950G/A polymorphism had a negative effect on the risk of AD for GA or GG+GA genotypes compared with AA in the overall population or Asians. 27390868

2016

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE Pooled results of our meta-analysis indicated CHAT rs2177369 polymorphism was correlated with decreasing AD risk in one of five genetic models (dominant: OR = 0.77, 95% CI: 0.62-0.96), while rs3810950 mutant was associated with AD development in three models (allelic: OR = 1.18, 95% CI: 1.01-1.37, homozygous: OR = 1.63, 95% CI: 1.09-2.42, and recessive: OR = 1.65, 95% CI: 1.20-2.26). 27597977

2016

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE For CHAT, rs2177369 (G>A) in whites and rs3810950 (G>A) in Asians were found to be associated with AD susceptibility. 27272392

2016

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE Stratification by the presence of the APOE ε4 allele showed that rs3810950 AG/non-APOE ε4 carriers and rs3810950 AA/APOE ε4 carriers were associated with a lower cognitive composite score in younger elderly 73-83 years of age, similar to previous reports of association with AD. 21883924

2011

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE Nominal allelic and genotypic associations with AD r</span>isk in the cross-sectional VITA sample were found for rs3810950 (p = 0.038 for genotype, OR = 1.66 95% CI 1.03-2.68, p = 0.052 allele-wise). 21507424

2011

dbSNP: rs3810950
rs3810950
0.070 GeneticVariation BEFREE Previous studies have reported significant disease associations for both the K-variant of BChE and the coding ChAT rs3810950 polymorphism with AD. 15690550

2005

dbSNP: rs1880676
rs1880676
0.030 GeneticVariation BEFREE Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis. 27390868

2016

dbSNP: rs1880676
rs1880676
0.030 GeneticVariation BEFREE No association was detected between rs1880676 and rs868750 and AD</span> risk. 27272392

2016

dbSNP: rs2177369
rs2177369
0.030 GeneticVariation BEFREE For CHAT, rs2177369 (G>A) in whites and rs3810950 (G>A) in Asians were found to be associated with AD susceptibility. 27272392

2016

dbSNP: rs2177369
rs2177369
0.030 GeneticVariation BEFREE Pooled results of our meta-analysis indicated CHAT rs2177</span>369 polymorphism was correlated with decreasing AD risk in one of five genetic models (dominant: OR = 0.77, 95% CI: 0.62-0.96), while rs3810950 mutant was associated with AD development in three models (allelic: OR = 1.18, 95% CI: 1.01-1.37, homozygous: OR = 1.63, 95% CI: 1.09-2.42, and recessive: OR = 1.65, 95% CI: 1.20-2.26). 27597977

2016

dbSNP: rs2177369
rs2177369
0.030 GeneticVariation BEFREE Our meta-analysis suggested that rs1880670G/A, and rs2177369 G/A polymorphisms were not risk factors for AD. 27390868

2016

dbSNP: rs2177369
rs2177369
0.030 GeneticVariation BEFREE Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis. 27390868

2016

dbSNP: rs1880676
rs1880676
0.030 GeneticVariation BEFREE Furthermore, an association of rs1880676 with AD was specific to carriers of the APOEε4 risk allele (p = 0.008, genotype; OR = 3.47 95% CI 1.50-8.01 p = 0.005 allele-wise). 21507424

2011

dbSNP: rs868750
rs868750
0.020 GeneticVariation BEFREE No association was detected between rs1880676 and rs868750 and AD</span> risk. 27272392

2016

dbSNP: rs868750
rs868750
0.020 GeneticVariation BEFREE However, rs3810950G/A, or rs868750G/A genetic polymorphism was a genetic risk factor for the development of AD. 27390868

2016

dbSNP: rs2177370
rs2177370
0.010 GeneticVariation BEFREE The response to AChEIs in AD patients was significantly associated with 2 SNPs on the intronic region of CHAT rs2177370 (uncorrected P=0.0025, FDR controlled P=0.026) and rs3793790 (uncorrected P=0.0024, FDR controlled P=0.026). 25730470

2015

dbSNP: rs3793790
rs3793790
0.010 GeneticVariation BEFREE The response to AChEIs in AD patients was significantly associated with 2 SNPs on the intronic region of CHAT rs2177370 (uncorrected P=0.0025, FDR controlled P=0.026) and rs3793790 (uncorrected P=0.0024, FDR controlled P=0.026). 25730470

2015

dbSNP: rs8178990
rs8178990
0.010 GeneticVariation BEFREE The ChAT rs3810950 A allele, which has been associated with increased risk for AD, was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score [P = 0.03, regression coefficient -0.30, 95% confidence interval (CI) -0.57 to -0.02], and the rs3810950 and rs8178990 ancestral GC haplotype was also associated with better cross-sectional cognitive composite score (P = 0.04, regression coefficient 0.59, 95% CI 0.03 to 1.16). 21883924

2011

dbSNP: rs772659997
rs772659997
0.010 GeneticVariation BEFREE Associations between AD and/or depression to gene polymorphisms APO E (epsilon4), choline acetyltransferase (ChAT) 4G to A, serotonin-transporter gene promoter-length, dopamine-D4-receptor, ciliary-neurotrophic-factor-null mutation and brain-derived neurotrophic factor (C270T) and to various known factors were analyzed. 18603262

2009

dbSNP: rs1455460144
rs1455460144
0.010 GeneticVariation BEFREE Polymorphisms at the paraoxonase 1 L55M and Q192R loci affect the pathophysiology of Alzheimer's disease: emphasis on the cholinergic system and beta-amyloid levels. 18322397

2008

dbSNP: rs733722
rs733722
0.010 GeneticVariation BEFREE After correction for multiple testing, we found one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors (P = 0.03) and accounts for 6% of the variance in response to AChE inhibitors. 16424819

2006

dbSNP: rs868749
rs868749
0.010 GeneticVariation BEFREE Because of the potential importance of this finding we analyzed this SNP and another functional SNP within exon 9 (rs868749) of the CHAT gene using a German case control sample consisting of 242 patients with AD and 143 cognitively healthy controls. 12770689

2003