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rs1990760

From SNPedia

Associated with autoimmune diseases
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C)
Make rs1990760(C;T)
Make rs1990760(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position162267541
GeneIFIH1
is asnp
is mentioned by
dbSNPrs1990760
ebirs1990760
HLIrs1990760
Exacrs1990760
Varsomers1990760
Maprs1990760
PheGenIrs1990760
hapmaprs1990760
1000 genomesrs1990760
hgdprs1990760
ensemblrs1990760
gopubmedrs1990760
geneviewrs1990760
scholarrs1990760
googlers1990760
pharmgkbrs1990760
gwascentralrs1990760
openSNPrs1990760
23andMers1990760
23andMe allrs1990760
SNP Nexus

SNPshotrs1990760
SNPdbers1990760
MSV3drs1990760
GWAS Ctlgrs1990760
GMAF0.3669
Max Magnitude
? (C;C) (C;T) (T;T) 28

This SNP is unclear. According to GWAS one study says risk allele is A, another study says risk allele is C. Ambiguous flip ?

Abstract

associated with type-1 diabetes, organ-specific autoimmune diseases, including Graves' disease. (odds ratio 1.47 (CI: 1.23–1.76, p = 1.9 x 10–5)

This polymorphism may also contribute to several other autoimmune disorders.

[PMID 18026693] A study of 261 Chinese patients with Graves' disease failed to find any association with rs1990760.

[PMID 19156166OA-icon.png] A study of 591 French Caucasian multiple sclerosis trio families found no association between rs1990760 or rs2068330 and the disease, which did not confirm one previously reported study.

GWAS snp
PMID [PMID 17554260OA-icon.png]
Trait Type 1 diabetes
Title Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Risk Allele A
P-val 1.9999999999999999E-11
Odds Ratio 1.18 [1.11-1.23]
GWAS snp
PMID [PMID 19430480OA-icon.png]
Trait Type 1 diabetes
Title Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Risk Allele
P-val 7E-9
Odds Ratio NR NR
OMIM610155
DescDIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
Variant
Relatedalso
OMIM275000
DescGRAVES DISEASE
Variant
Relatedalso

[PMID 19450885] Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1

[PMID 19841890] The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations


[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families


[PMID 19951419OA-icon.png] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis


[PMID 20467774] Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis

[PMID 20694011] Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency

OMIM137100
Desc
Variant
Relatedalso
[PMID 22110759OA-icon.png] Polymorphisms in the Innate Immune IFIH1 Gene, Frequency of Enterovirus in Monthly Fecal Samples during Infancy, and Islet Autoimmunity
GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele C
P-val 2E-14
Odds Ratio 1.2000 [NR]

[PMID 16699517] A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.

[PMID 17442111OA-icon.png] The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis.

[PMID 17535987] Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.

[PMID 17940599OA-icon.png] Assembly of inflammation-related genes for pathway-focused genetic analysis.

[PMID 18071670] The association between the IFIH1 locus and type 1 diabetes.

[PMID 18285833] IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.

[PMID 18556337OA-icon.png] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

[PMID 18647951OA-icon.png] A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.

[PMID 18776148OA-icon.png] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.

[PMID 18840781OA-icon.png] Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.

[PMID 18927125OA-icon.png] IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.

[PMID 18987646OA-icon.png] The expanding genetic overlap between multiple sclerosis and type I diabetes.

[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.

[PMID 19251732OA-icon.png] Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage.

[PMID 19264985OA-icon.png] Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

[PMID 19359276OA-icon.png] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

[PMID 19539001] IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population.

[PMID 19732865OA-icon.png] A generalized family-based association test for dichotomous traits.

[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956109OA-icon.png] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

[PMID 19961590OA-icon.png] The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease.

[PMID 20018022OA-icon.png] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.

[PMID 20644636OA-icon.png] Study of transcriptional effects in Cis at the IFIH1 locus.

[PMID 21705624OA-icon.png] Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients.

[PMID 22053898] IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population.

[PMID 22152027] Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis.


GET Evidence
IFIH1-A946T
aa_change Ala946Thr
aa_change_short A946T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.458635
summary



[PMID 23144876OA-icon.png] Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH1


[PMID 23441136OA-icon.png] Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production


[PMID 23734776] Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: A meta-analysis


[PMID 22789000] Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease


[PMID 24386202OA-icon.png] The A Allele of the rs1990760 Polymorphism in the IFIH1 Gene Is Associated with Protection for Arterial Hypertension in Type 1 Diabetic Patients and with Expression of This Gene in Human Mononuclear Cells


[PMID 24621100] A Polymorphism in Melanoma Differentiation-associated Gene 5 May Be a Risk Factor for Enterovirus 71 Infection


[PMID 23108955] Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population.


[PMID 24960033] Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population


[PMID 25337792OA-icon.png] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population


[PMID 25515714] Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes


[PMID 26074154] Non-HLA gene effects on the disease process of type 1 diabetes: From HLA susceptibility to overt disease.