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SORL1

From SNPedia

is agene
is mentioned by
Full namesortilin-related receptor, L(DLR class) A repeats-containing
EntrezGene6653
PheGenI6653
VariationViewer6653
ClinVarSORL1
GeneCardsSORL1
dbSNP6653
SADR6653
HugeNav6653
wikipediaSORL1
googleSORL1
gopubmedSORL1
EVSSORL1
HEFalMpSORL1
MyGene2SORL1
23andMeSORL1
UniProtQ92673
EnsemblENSG00000137642
OMIM602005
# SNPs41
 Max MagnitudeChromosome positionSummary
rs1010159121,612,692
rs108927591.01121,593,379
rs112183420121,563,719
rs112183430121,564,878
rs11218350121,581,942
rs1133174121,631,046
rs11600875121,486,259
rs117260922121,496,918
rs12285364121,522,517
rs12364988121,496,917
rs143571823121,558,767
rs1699102121,586,253
rs16991030121,581,217
rs17849190121,568,956
rs17849311.01121,612,229
rs1784933121,618,707
rs17921130121,594,237
rs17921240121,570,811
rs2070045121,577,381
rs2282649121,608,249
rs2298525121,490,306
rs2298813121,522,975
rs22988140121,554,173
rs3781834121,575,231
rs37818350121,577,545
rs3781836121,577,629
rs37818380121,582,808
rs3824966121,577,474
rs3824968121,605,213
rs4598682121,505,242
rs4935774121,451,045
rs641120121,510,256
rs65898850121,555,333
rs661057121,458,245
rs668387121,497,212
rs689021121,500,411
rs7200990121,563,084
rs7266010121,610,698
rs7945931121,470,553
rs79465990121,552,931
rs985421121,491,607

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]