rs11568563

This is a protein-altering variant in the SLCO1A2 gene.

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Research that mentions this SNP (1)

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Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci
AssociationN=437Mariet Allen et al.(2016)· Acta Neuropathologica

A study of 175 PSP (progressive supranuclear palsy) cases examining effects of GWAS-identified risk variants on brain gene expression, CpG methylation, and neuropathology. PSP risk SNPs rs8070723, rs242557, and rs1768208 were associated with altered brain levels of LRRC37A4, ARL17B, ARL17A, and MOBP. Meta-analysis confirmed highly significant associations for rs8070723 with LRRC37A4 and rs1768208 with MOBP. Risk alleles also associated with increased tau neuropathology including coiled bodies and tau threads, suggesting these variants influence PSP risk through effects on gene expression and tau pathology.

Traits studied:Neurofibrillary tanglesOligodendroglial coiled bodiesProgressive supranuclear palsy (PSP)Tau neuropathologyTau threadsTufted astrocytes
PubMedDOIMetascience Observatory

About SLCO1A2

This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]

View all SLCO1A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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