SORL1
| is a | gene |
| is | mentioned by |
| Full name | sortilin-related receptor, L(DLR class) A repeats-containing |
| EntrezGene | 6653 |
| PheGenI | 6653 |
| VariationViewer | 6653 |
| ClinVar | SORL1 |
| GeneCards | SORL1 |
| dbSNP | 6653 |
| Diseases | SORL1 |
| SADR | 6653 |
| HugeNav | 6653 |
| wikipedia | SORL1 |
| SORL1 | |
| gopubmed | SORL1 |
| EVS | SORL1 |
| HEFalMp | SORL1 |
| MyGene2 | SORL1 |
| 23andMe | SORL1 |
| UniProt | Q92673 |
| Ensembl | ENSG00000137642 |
| OMIM | 602005 |
| # SNPs | 41 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1010159 | 0 | 121,612,692 | |
| rs10892759 | 1.01 | 121,593,379 | |
| rs11218342 | 0 | 121,563,719 | |
| rs11218343 | 0 | 121,564,878 | |
| rs11218350 | 0 | 121,581,942 | |
| rs1133174 | 0 | 121,631,046 | |
| rs11600875 | 0 | 121,486,259 | |
| rs117260922 | 0 | 121,496,918 | |
| rs12285364 | 0 | 121,522,517 | |
| rs12364988 | 0 | 121,496,917 | |
| rs143571823 | 0 | 121,558,767 | |
| rs1699102 | 0 | 121,586,253 | |
| rs1699103 | 0 | 121,581,217 | |
| rs1784919 | 0 | 121,568,956 | |
| rs1784931 | 1.01 | 121,612,229 | |
| rs1784933 | 0 | 121,618,707 | |
| rs1792113 | 0 | 121,594,237 | |
| rs1792124 | 0 | 121,570,811 | |
| rs2070045 | 0 | 121,577,381 | |
| rs2282649 | 0 | 121,608,249 | |
| rs2298525 | 0 | 121,490,306 | |
| rs2298813 | 0 | 121,522,975 | |
| rs2298814 | 0 | 121,554,173 | |
| rs3781834 | 0 | 121,575,231 | |
| rs3781835 | 0 | 121,577,545 | |
| rs3781836 | 0 | 121,577,629 | |
| rs3781838 | 0 | 121,582,808 | |
| rs3824966 | 0 | 121,577,474 | |
| rs3824968 | 0 | 121,605,213 | |
| rs4598682 | 0 | 121,505,242 | |
| rs4935774 | 0 | 121,451,045 | |
| rs641120 | 0 | 121,510,256 | |
| rs6589885 | 0 | 121,555,333 | |
| rs661057 | 0 | 121,458,245 | |
| rs668387 | 0 | 121,497,212 | |
| rs689021 | 0 | 121,500,411 | |
| rs720099 | 0 | 121,563,084 | |
| rs726601 | 0 | 121,610,698 | |
| rs7945931 | 0 | 121,470,553 | |
| rs7946599 | 0 | 121,552,931 | |
| rs985421 | 0 | 121,491,607 |
Multiple genetic variants in the SORL1 gene are reported to be associated with Alzheimer's disease. They note that SORL1 and ApoE associations differ markedly [1]
A subsequent study in 2000 patients was unable to replicate any association between 11 SNPs in the SORL1 gene and late onset Alzheimer's disease, but did find a (weak) association with rs2070045.[PMID 17949987] Another study was able to replicate the association between at least some SORL1 SNPs and Alzheimer's disease.[PMID 18090307]
Differences between ethnicities may also be complex with regard to the risk of developing Alzheimer's disease. In a recent study, one SNP (#12) near the 5' region was associated with AD in African American and Hispanic individuals, whereas two SNPs (#26 and #20, respectively) in the 3' region were also associated with AD in African American and non-Hispanic white individuals. Different haplotypes were associated with AD in African American and white individuals, including the TTC haplotypes at SNPs #23-25, as previously published for Caucasians. [PMID 17420311]
Subsequently, a study of 1000+ patients has (again) found some association with Alzheimer's disease for six SORL1 SNPs.[PMID 18090307]
Recent evidence has revealed that SORL1 and possibly other genes harbor rare risk variants of intermediate to large effect size for Alzheimer's [2]. In the article 17 variants in SORL1 were found related to Alzheimer's, though further research is necessary [3]. With additional confirmation, SORL1 would become the fourth autosomal Alzheimer gene discovered. 2% of Alzheimer patients are believed to carry a rare SORL1 variant.
