rs4935774

This variant is located in the SORL1 gene.

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Research that mentions this SNP (1)

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Association of Distinct Variants in SORL1 With Cerebrovascular and Neurodegenerative Changes Related to Alzheimer Disease
AssociationN=515T. Cuenco K. et al.(2008)· Archives of Neurology

This family-based association study examined SORL1 genetic variants previously associated with Alzheimer disease in relation to brain MRI measures of atrophy and vascular disease, as well as neuropathological markers of neurodegeneration. Multiple SORL1 SNPs (rs8-10, rs22-25) and haplotypes showed significant associations with white matter hyperintensities (p=0.001-0.006) and cerebrovascular disease (p=0.002-0.006), demonstrating that distinct genomic regions of SORL1 influence different aspects of AD-related pathology.

Traits studied:Alzheimer diseaseBrain atrophyCerebrovascular diseaseNeurodegenerationWhite matter hyperintensities
PubMedDOIMetascience Observatory

About SORL1

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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