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rs281408

From SNPedia

Orientationplus
Stabilizedplus
Make rs281408(A;A)
Make rs281408(A;C)
Make rs281408(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position48730149
GeneRASIP1
is asnp
is mentioned by
dbSNPrs281408
ebirs281408
HLIrs281408
Exacrs281408
Varsomers281408
Maprs281408
PheGenIrs281408
hapmaprs281408
1000 genomesrs281408
hgdprs281408
ensemblrs281408
gopubmedrs281408
geneviewrs281408
scholarrs281408
googlers281408
pharmgkbrs281408
gwascentralrs281408
openSNPrs281408
23andMers281408
23andMe allrs281408
SNP Nexus

SNPshotrs281408
SNPdbers281408
MSV3drs281408
GWAS Ctlgrs281408
Max Magnitude
? (A;A) (A;C) (C;C) 28
A genome-wide association study of metabolic traits [PMID 24586186OA-icon.png] found that variations in rs281408 are strongly correlated with fucose levels in urine samples, which in turn are associated with inflammatory bowel disease and Crohn’s disease. This single nucleotide polymorphism is specifically found in the RASIP1 gene, with reference allele C and minor allele A (P = 9.5x10-27). RASIP1 is positioned within a large linkage-desequilibrium-block on chromosome 19 also encompassing FUT2 and IZUMO1. As such, rs281408 has a strong LD with rs492602 (r2 = 0.87), which is located within the FUT2 gene that encodes for fucosyltransferase.

FUT2 has previously been associated with vitamin B12 levels in the serum [PMID 18776911OA-icon.png]. The FUT2 gene product is integral for secretion and display of ABO blood group antigens on mucosal surface cells, which serve as a point of interaction with gut bacteria and pathogenic viruses. Furthermore, fucose levels (the substrate molecule of fucosyl treansferase) have been associated with gut health (by virtue of the microbial composition within) and, by extension, with inflammatory bowel disease and Crohn’s Disease [PMID 21102463OA-icon.png]. Indeed, Crohn’s Disease mouse models display increased urine fucose levels [PMID 20141220].