SORL1 Is Associated with the Risk of Late-Onset Alzheimer's Disease: a Replication Study and Meta-Analyses.

The sorting-related receptor gene (SORL1) has been defined as an interesting candidate gene for Alzheimer's disease (AD). Recently, one novel variant, rs11218343, within SORL1 was reported to be related to late-onset Alzheimer's disease (LOAD) in Caucasians, Korean, and Japanese. The aim of this case-control study is to investigate whether SORL1 rs11218343 contributes to susceptibility for LOAD in Chinese. Furthermore, our data, along with previously studies, were pooled for determining the risk of the rs11218343 polymorphism on LOAD. The rs11218343 polymorphism was genotyped in the 2350 independent subjects from Northern Han Chinese population (including 992 cases and 1358 age- and gender-matched controls). Result of the case-control study showed the association between rs11218343 polymorphism and the risk of LOAD in a Northern Han Chinese population (recessive model: odds ratio (OR) = 0.641, 95 % confidence interval (CI) = 0.464-0.884, P = 0.007; additive model: OR = 0.873, 95 % CI = 0.765-0.996, P = 0.043). The results of meta-analysis in subgroups (Caucasian and Asian) and the whole showed that the minor allele (C allele) within rs11218343 played a protective effect on AD risk (OR (95 % CI), 0.77 (0.72-0.83), 0.85 (0.79-0.91), 0.81 (0.76-0.85), respectively). In conclusion, the C allele in SORL1 rs11218343 may be a protective factor for LOAD in both Caucasian and Han Chinese.