Published studies revealed that the microtubule-associated protein tau (MAPT) gene polymorphisms increased Alzheimer's disease (AD) risk; the associations of 4 single nucleotide polymorphisms (SNPs, rs242557G/A, rs2471738C/T, rs3785883G/A and rs1467967A/G) of the MAPT gene with AD risk, however, remain inconclusive. Here, we conducted a meta-analysis to investigate the relationship between the MAPT SNPs and AD risk. A significant association of SNP rs242557 with AD risk was found in a dominant [odds ratio (OR) = 1.05, 95% confidence interval (CI) = 1.01, 1.10, P = 0.025] genetic model, and a suggestive association in an allelic (OR = 1.03, 95% CI = 1.00, 1.06, P = 0.078). When APOE epsilon 4 carrier status was included in stratified analysis, this association was even stronger (allelic model for the APOE epsilon 4 positive individuals: OR = 1.24, 95% CI = 1.08, 1.43, P = 0.003). Furthermore, a significant association of SNP rs2471738 with AD risk was found under all the four models (allelic: OR = 1.11, 95% CI = 1.01, 1.20, P = 0.021; dominant: OR = 1.10, 95% CI = 1.00, 1.21, P = 0.046; recessive: OR = 1.18, 95% CI = 1.05, 1.32, P = 0.004; additive: OR = 1.20, 95% CI = 1.07, 1.34, P = 0.002) models. However, pooled results suggest that the neither rs3785883 nor rs1467967 is associated with AD risk under all the four genetic models. In summary, our study provides further evidence of the associations of the MAPT SNPs with AD risk.
Keywords: Alzheimer’s disease; meta-analysis; microtubule-associated protein tau; single nucleotide polymorphisms.