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rs2254958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.5 1.61x increased risk for Alzheimer's
(C;T) 2.1 1.24x increased risk for Alzheimer's
(T;T) 0 common
ReferenceGRCh38 38.1/142
Chromosome2
Position37149148
GeneEIF2AK2
is asnp
is mentioned by
dbSNPrs2254958
ebirs2254958
HLIrs2254958
Exacrs2254958
Varsomers2254958
Maprs2254958
PheGenIrs2254958
hapmaprs2254958
1000 genomesrs2254958
hgdprs2254958
ensemblrs2254958
gopubmedrs2254958
geneviewrs2254958
scholarrs2254958
googlers2254958
pharmgkbrs2254958
gwascentralrs2254958
openSNPrs2254958
23andMers2254958
23andMe allrs2254958
SNP Nexus

SNPshotrs2254958
SNPdbers2254958
MSV3drs2254958
GWAS Ctlgrs2254958
GMAF0.4316
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
While the ApoE4 allele (rs429358(C)) is widely accepted as the predominant genetic risk factor for Alzheimer's disease, there are likely to be numerous other factors, both genetic and environmental, associated to lesser degrees with susceptibility to the disease. Genes influencing the immune system, and in particular susceptibility to viral infections such as herpes, may be among such factors. [PMID 16406033]

This SNP, located in the promoter region of the EIF2AK2 gene and thus implicated in the activation of HIV and HSV-1 viruses, is seen more commonly in ~300 Alzheimer patients than in the same number of controls. The risk allele is rs2254958(C). The odds ratio is reported to be 1.61 (CI: 1.02-2.55) for rs2254958(C;C) homozygotes, and 1.24 (CI: 0.80-1.93) for rs2254958(C;T) heterozygotes, compared with rs2254958(T;T) homozygotes. [PMID 17420072]


[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 19434718OA-icon.png] Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.


[PMID 19604093OA-icon.png] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.