rs12252
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh37.p5 37.3/135 |
| Chromosome | 11 |
| Position | 320772 |
| Gene | IFITM3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12252 |
| dbSNP (classic) | rs12252 |
| ClinGen | rs12252 |
| ebi | rs12252 |
| HLI | rs12252 |
| Exac | rs12252 |
| Gnomad | rs12252 |
| Varsome | rs12252 |
| LitVar | rs12252 |
| Map | rs12252 |
| PheGenI | rs12252 |
| Biobank | rs12252 |
| 1000 genomes | rs12252 |
| hgdp | rs12252 |
| ensembl | rs12252 |
| geneview | rs12252 |
| scholar | rs12252 |
| rs12252 | |
| pharmgkb | rs12252 |
| gwascentral | rs12252 |
| openSNP | rs12252 |
| 23andMe | rs12252 |
| SNPshot | rs12252 |
| SNPdbe | rs12252 |
| MSV3d | rs12252 |
| GWAS Ctlg | rs12252 |
| GMAF | 0.2144 |
| Max Magnitude | 2.9 |
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 22446628
]; 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 23997235]
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 23997235]
[PMID 19946179] Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis.
[PMID 23361009] 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 25784441] Interferon-induced transmembrane protein-3 rs12252-C is associated with rapid progression of acute HIV-1 infection in Chinese MSM cohort
[PMID 25942469] Interferon-Inducible Transmembrane Protein 3 Genetic Variant rs12252 and Influenza Susceptibility and Severity: A Meta-Analysis
[PMID 28510725] IFITM3, TLR3, and CD55 Genes SNPs and Cumulative Ge-netic Risks for Severe Outcomes in Chinese Patients with H7N9 / H1N1pdm09 Influenza.
[PMID 28714988] SNP-mediated disruption of CTCF binding at the IFITM3 promoter is associated with risk of severe influenza in humans.
[PMID 28842783] Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity.
[PMID 29053189] Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission.
[PMID 30421689] Association between rs12252 and influenza susceptibility and severity: an updated meta-analysis.
[PMID 30662816] Antiviral Protection by IFITM3 In Vivo.
[PMID 33174121] Ethnic variation in risk genotypes based on single nucleotide polymorphisms (SNPs) of the interferon-inducible transmembrane 3 (IFITM3) gene, a susceptibility factor for pandemic 2009 H1N1 influenza A virus.
[PMID 33240681] The frequency of combined IFITM3 haplotype involving the reference alleles of both rs12252 and rs34481144 is in line with COVID-19 standardized mortality ratio of ethnic groups in England.
