rs2297322
This is a protein-altering variant in the SLC15A1 gene.
▶Research that mentions this SNP (1)
▶PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel diseaseAssociationN=1,783Marco Zucchelli et al.(2009)· Inflammatory Bowel Diseases
A case-control study of 1,783 Swedish and Finnish individuals identified rs2297322 (Ser117Asn), a coding polymorphism in SLC15A1, as significantly associated with Crohn's disease in both populations, though with opposite directional effects (OR 1.97 in Sweden vs OR 0.63 in Finland among NOD2-mutation-negative individuals, P=0.0007 and P=0.0013 respectively). In vitro functional studies showed the PepT1-Asn117 variant reduced NOD2-mediated NFκB signaling compared to Ser117.
About SLC15A1
This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
View all SLC15A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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