From SNPedia
rs601338 is found on chromosome 19 in the alpha(1,2)-fucosyltransferase FUT2 gene. The wild-type rs601338(G) encodes the "secretor" (Se) allele, while rs601338(A) encodes the "non-secretor" (se) allele.
A study of 115 Swedish adults concluded that rs601338(A;A) homozygotes have genetic immunity to infection by the Norwalk norovirus, a major (and contagious) cause of acute gastroenteritis worldwide among adults. [PMID 12692541] [PMID 16306606] This illness is also known as "cruise ship gastroenteritis."
Being a non-secretor may have other consequences, such as greater susceptibility to infection by influenza viruses and by some types of bacteria. 23andMe discusses these topics.
In some non-Caucasian populations, a different SNP is responsible for non-secretor phenotypes. For example, although the Se allele is absent in Japanese, 15% are non-secretors based on being homozygous for the non-secretor "sej" allele of SNP rs1047781. [PMID 8621666]
| ? | (A;A) (A;G) (G;G) |
|---|
 |
Related to VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1
according to
omim 612542. See
also
[PMID 19744961] Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
| PharmGKB | PA162355649 |
| Name | FUT2: W143X |
| Annotation | Results from in vitro expression assays indicate that this polymorphism, which creates the translation termination codon, inactivates this allele. Approximately 20% of randomly-selected individuals were found to be homozygous for this enzyme-inactivating nonsense allele, in correspondence to the frequency of the non-secretor phenotype in most human populations. |
| Gene | FUT2 |
| Featue | |
| Evidence | PubMed ID:7876235 |
| Drugs | cyanocobalamin |
| Diseases | |
| Curation Level | Curated |
