Association between SORL1 and Alzheimer's disease in a genome-wide study

Abstract

Several studies have reported an association of Alzheimer's disease (AD) with polymorphic markers in SORL1. Data from a recently published genome-wide association study in AD have been made publicly available. We tested the association of AD with SORL1 in this dataset (Translational Genomics Research Institute; TGEN), which included 31 SORL1 single nucleotide polymorphisms (SNPs), eight of which overlapped the original study. Six SNPs, near the 3' region of SORL1 containing SNPs which were strongly associated with AD in previous studies, showed significant association in the TGEN dataset. These results provide an independent replication of the association between AD and SORL1.

Figure 1

Linkage disequilibrium (LD) structure of SORL1. Relative locations of SNPs included in each dataset are shown on two parallel stick diagrams, with LD maps for the TGEN dataset located above and the north European familial AD dataset studied by Rogaeva et al. [1] below the gene structure. The measure of LD (D′) among all possible pairs of SNPs is shown graphically according to the shade of red where white represents very low D′ and dark red represents very high D′. High D′ estimates associated with a large confidence interval (most likely due to one of the alleles being rare) are denoted by blue squares.