Background: Epidemiological studies have investigated the role of choline acetyltransferase (ChAT) in Alzheimer's disease (AD). ChAT gene polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A, and rs3810950G/A) may be associated with the risk of AD. In this meta-analysis, we determined the relationship between the four polymorphisms and the risk of AD.
Methods: We searched MEDLINE, EMBASE, and HuGEnet databases for studies linking the four polymorphisms with AD risk. We included 16 articles in our meta-analysis to assess the association between the four polymorphisms and susceptibility to AD by calculating the pooled odds ratios (ORs) and 95% confidence intervals (CIs).
Results: The combined results showed no significant association with rs1880676G/A and rs2177369G/A polymorphisms. The risk of AD (GG+GA versus AA: OR = 0.01, 95%CI = 0.01-0.02, P < 0.05; GG versus GA+AA: OR = 0.85, 95%CI = 0.72-1.00, P = 0.05; GA versus AA: OR = 0.60, 95% CI = 0.37-0.98, P = 0.04) with rs868750G/A polymorphism, or the association of rs3810950G/A polymorphism with AD risk in the overall population (GA versus AA: OR = 0.64, 95% CI = 0.44-0.93, P = 0.02; GG+GA versus AA: OR = 0.62, 95% CI = 0.39-0.97, P = 0.04) or Asian group (GA versus AA: OR = 0.50, 95% CI = 0.32-0.76, P = 0.001, and GG+GA versus AA: OR = 0.46, 95% CI = 0.30-0.09, P = 0.0002) was demonstrated.
Conclusions: Our meta-analysis suggested that rs1880670G/A, and rs2177369 G/A polymorphisms were not risk factors for AD. However, rs3810950G/A, or rs868750G/A genetic polymorphism was a genetic risk factor for the development of AD. 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.