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rs12252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.9 possible miscall in Ancestry v2.0 datasets; otherwise, probably more susceptible to influenza
(C;T) 1.5 carrier of one allele linked to greater influenza susceptibility
(T;T) 0 more resistant to influenza
ReferenceGRCh37.p5 37.3/135
Chromosome11
Position320772
GeneIFITM3
is asnp
is mentioned by
dbSNPrs12252
ebirs12252
HLIrs12252
Exacrs12252
Varsomers12252
Maprs12252
PheGenIrs12252
hapmaprs12252
1000 genomesrs12252
hgdprs12252
ensemblrs12252
gopubmedrs12252
geneviewrs12252
scholarrs12252
googlers12252
pharmgkbrs12252
gwascentralrs12252
openSNPrs12252
23andMers12252
23andMe allrs12252
SNP Nexus

SNPshotrs12252
SNPdbers12252
MSV3drs12252
GWAS Ctlgrs12252
GMAF0.2144
Max Magnitude2.9

rs12252 is a SNP in the IFITM3 gene, which encodes the interferon-inducible transmembrane protein. The rs12252(C) allele encodes an IFITM3 isoform (known as Δ21 IFITM3) which is lacking 21 amino acids at the amino terminus of the protein.

In a 2012 study of ~100 hospitalized Caucasian patients with H1N1/09 influenza (flu) virus in 2009, there was a significant enrichment in individuals with rs12252(C;C) genotypes. Specifically, although 1 in 300 uninfected people were reported to carry the (C;C) genotype, in the hospitalized patients the frequency was 1 in 17.[PMID 22446628OA-icon.png]; see also MedPage

However, in subsequent studies of more than 5000 subjects in two separate cohorts the association between the rs12252(C) polymorphism and the severity of H1N1 influenza could not be established, although there was a susceptibility to mild infection.[PMID 23997235OA-icon.png]

The frequency of the rs12252(C) allele varies very widely between Caucasian and Asian patients; while very low in Caucasians, up to 25 - 50% of all Japanese or Chinese individuals may have the rs12252(C;C) genotype. A study of Han Chinese concluded that the rs12252(C;C) genotype was estimated to confer a sixfold greater risk for severe infection than the CT and TT genotypes.[PMID 23997235OA-icon.png]


[PMID 19946179OA-icon.png] Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis.


[PMID 23361009OA-icon.png] Interferon-induced transmembrane protein-3 genetic variant rs12252-C is associated with severe influenza in Chinese individuals

ClinVar
Risk rs12252(C;C)
Alt rs12252(C;C)
Reference rs12252(T;T)
Significance Other
Disease Influenza
Variation info
Gene IFITM3
CLNDBN Influenza
Reversed 1
HGVS NC_000011.9:g.320772A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024238.2,



[PMID 25784441OA-icon.png] Interferon-induced transmembrane protein-3 rs12252-C is associated with rapid progression of acute HIV-1 infection in Chinese MSM cohort

[PMID 25942469OA-icon.png] Interferon-Inducible Transmembrane Protein 3 Genetic Variant rs12252 and Influenza Susceptibility and Severity: A Meta-Analysis