Abstract
Although several epidemiological studies have investigated the association between ATP-binding cassette subfamily B member 1 (ABCB1) gene polymorphisms and Alzheimer’s disease (AD) susceptibility, controversial results exist. Here, we performed a meta-analysis to assess whether ABCB1 polymorphisms 3435C > T (rs1045642), 2677G > T/A (rs2032582), 1236C > T (rs1128503) and haplotypes were associated with AD risk. Nine independent publications were included and analyzed. Crude odds ratio (OR) and 95% confidence interval (CI) were applied to investigate the strength of the association. Sensitivity analysis was conducted to measure the robustness of our analysis. A funnel plot and trim and fill method were used to test and adjust for publication bias. The results showed a significant association between the 3435C > T single nucleotide polymorphism (SNP) and AD susceptibility (CT vs. CC: OR = 1.24, 95% CI = 1.06–1.45, P = 0.01; CT + TT vs. CC: OR = 1.21, 95% CI = 1.04–1.41, P = 0.01) in the total population, as well as in Caucasian subgroup. The 2677G > T/A SNP was related to a decreased AD risk in Caucasian subgroup (TT + TA + AA vs. GT + GA + GG: OR = 0.68, 95% CI = 0.47–0.98, P = 0.04). Moreover, the ABCB1 haplotype analysis showed that the 1236T/2677T/3435C haplotype was associated with a higher risk of AD (OR = 1.99, 95% CI = 1.24–3.18, P = 0.00). Our results suggest that the ABCB1 3435C > T SNP, the 2677G > T/A SNP and 1236T/2677T/3435C haplotype are significantly associated with AD susceptibility.
Highlights
P-glycoprotein (P-gp) is encoded by the ATP-binding cassette subfamily B member 1 (ABCB1) gene and acts as an integral component of the blood-brain barrier (BBB)[21]
ABCB1 gene variants such as 3435C >T, 2677G >T/A, 1236C >T polymorphisms have been reported to be associated with Alzheimer’s disease (AD) risk[23,24,26], several researchers have shown opposite results[25,27,28,29,30,31]
To investigate if ABCB1 polymorphisms are associated with the susceptibility to AD, we conducted this meta-analysis to study the relationship between ABCB1 polymorphisms and AD risk
Summary
P-glycoprotein (P-gp) is encoded by the ABCB1 gene and acts as an integral component of the blood-brain barrier (BBB)[21]. The 3435C >T polymorphism of ABCB1, which is a C to T transformation in exon 26 with no change in the amino acid encoded, is not related to AD risk in most studies[24,25,27,29,30,31]. Fehér et al.[23] and van Assema et al.[26] suggested a positive association between the 3435C >T polymorphism and AD susceptibility. The ABCB1 1236C >T polymorphism is a nucleotide change in exon 12 with no change in the amino acid encoded, and van Assema et al.[26] suggested 1236C >T polymorphism might contribute to the progression of Aβdeposition in brain. We carried out a meta-analysis to investigate the associations between ABCB1 gene polymorphisms and haplotypes and AD risk
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