rs601338
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.5 | resistance to Norovirus infection |
| (A;G) | 0.1 | susceptible to Norovirus infections |
| (G;G) | 0.1 | susceptible to Norovirus infections |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 48703417 |
| Gene | FUT2, LOC105447645 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs601338 |
| dbSNP (classic) | rs601338 |
| ClinGen | rs601338 |
| ebi | rs601338 |
| HLI | rs601338 |
| Exac | rs601338 |
| Gnomad | rs601338 |
| Varsome | rs601338 |
| LitVar | rs601338 |
| Map | rs601338 |
| PheGenI | rs601338 |
| Biobank | rs601338 |
| 1000 genomes | rs601338 |
| hgdp | rs601338 |
| ensembl | rs601338 |
| geneview | rs601338 |
| scholar | rs601338 |
| rs601338 | |
| pharmgkb | rs601338 |
| gwascentral | rs601338 |
| openSNP | rs601338 |
| 23andMe | rs601338 |
| SNPshot | rs601338 |
| SNPdbe | rs601338 |
| MSV3d | rs601338 |
| GWAS Ctlg | rs601338 |
| GMAF | 0.3242 |
| Max Magnitude | 2.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
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]
It also appears to affect the composition of the microbiome [1], with secretors apparently having higher levels of Bifidobacteria.
http://blog.personalgenomes.org/2012/02/29/invulnerability-to-stomach-flu-is-my-secret-superpower/
http://evidence.personalgenomes.org/FUT2-W154X
[PMID 19744961] Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
[PMID 22521342] Extended Analysis of a Genome-Wide Association Study in Primary Sclerosing Cholangitis Detects Multiple Novel Risk Loci.
| ClinVar | |
|---|---|
| Risk | Rs601338(A;A) |
| Alt | Rs601338(A;A) |
| Reference | Rs601338(G;G) |
| Significance | Other |
| Disease | SECRETOR/NONSECRETOR POLYMORPHISM Norwalk virus infection Vitamin b12 plasma level quantitative trait locus 1 |
| Variation | info |
| Gene | FUT2 LOC105447645 |
| CLNDBN | SECRETOR/NONSECRETOR POLYMORPHISM Norwalk virus infection, resistance to Vitamin b12 plasma level quantitative trait locus 1 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.49206674G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013808.3, RCV000013809.23, RCV000013810.3, |
[PMID 18604267] Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
[PMID 18776911] Common variants of FUT2 are associated with plasma vitamin B12 levels.
[PMID 19169360] Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 22025780] FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection.
[PMID 23402911] Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant
[PMID 23075394] Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population.
| GWAS snp | |
|---|---|
| PMID | [PMID 24816252]
|
| Trait | Blood metabolite levels |
| Title | An atlas of genetic influences on human blood metabolites. |
| Risk Allele | A |
| P-val | 3E-11 |
| Odds Ratio | .04 [0.029-0.053] unit increase |
[PMID 28824326] FUT2 genetic variants as predictors of tumor development with hepatocellular carcinoma.
[PMID 30376117] FUT2 Genetic Variants and Reported Respiratory and Gastrointestinal Illnesses During Infancy.
