{{Rsnum
|rsid=1990760
|Gene=IFIH1
|Chromosome=2
|position=162267541
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3669
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IFIH1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 12.4 | 51.3 | 36.3
| HCB | 69.1 | 28.7 | 2.2
| JPT | 54.1 | 40.5 | 5.4
| YRI | 87.1 | 12.2 | 0.7
| ASW | 64.9 | 28.1 | 7.0
| CHB | 69.1 | 28.7 | 2.2
| CHD | 63.3 | 36.7 | 0.0
| GIH | 12.9 | 46.5 | 40.6
| LWK | 79.8 | 20.2 | 0.0
| MEX | 24.1 | 56.9 | 19.0
| MKK | 55.1 | 35.3 | 9.6
| TSI | 13.7 | 58.8 | 27.5
| HapMapRevision=28
}}[http://jcem.endojournals.org/cgi/content/abstract/92/8/3338 Abstract]

associated with [[type-1 diabetes]], organ-specific autoimmune diseases, including [[Graves' disease]]. (odds ratio 1.47 (CI: 1.23â€“1.76, p = 1.9 x 10<sup>â€“5</sup>)

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|19156166|OA=1
}} 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.

{{PMID Auto GWAS
|PMID=17554260
|Trait=Type 1 diabetes
|Title=Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
|RiskAllele=A
|Pval=1.9999999999999999E-11
|OR=1.18
|ORtxt=[1.11-1.23]
|OA=1
}}
{{PMID Auto GWAS
|PMID=19430480
|Trait=Type 1 diabetes
|Title=Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
|RiskAllele=
|Pval=7E-9
|OR=NR
|ORtxt=NR
|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19
|id=610155
|rsnum=1990760
}}

{{omim
|desc=GRAVES DISEASE
|id=275000
|rsnum=1990760
}}
{{PMID Auto
|PMID=19450885
|Title=Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1
}}
{{PMID Auto
|PMID=19841890
|Title=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 Auto
|PMID=19956106
|Title=Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families
|OA=1
}}

{{PMID Auto
|PMID=19951419
|Title=Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
|OA=1
}}

{{PMID Auto
|PMID=20467774
|Title=Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis
}}
{{PMID Auto
|PMID=20694011
|Title=Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency
}}

{{omim
|id=137100
|rsnum=1990760
}}

{{PMID Auto
|PMID=22110759
|Title=Polymorphisms in the Innate Immune IFIH1 Gene, Frequency of Enterovirus in Monthly Fecal Samples during Infancy, and Islet Autoimmunity
|OA=1
}}

{{PMID Auto GWAS
|PMID=21829393
|Trait=None
|Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|RiskAllele=C
|Pval=2E-14
|OR=1.2000
|ORtxt=[NR]
|OA=1
}}

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

{{PMID|17442111|OA=1
}} 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|17940599|OA=1
}} 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|18556337|OA=1
}} 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|18647951|OA=1
}} A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.

{{PMID|18776148|OA=1
}} Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.

{{PMID|18840781|OA=1
}} Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.

{{PMID|18927125|OA=1
}} IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.

{{PMID|18987646|OA=1
}} The expanding genetic overlap between multiple sclerosis and type I diabetes.

{{PMID|19073967|OA=1
}} Shared and distinct genetic variants in type 1 diabetes and celiac disease.

{{PMID|19251732|OA=1
}} Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage.

{{PMID|19264985|OA=1
}} Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

{{PMID|19359276|OA=1
}} 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|19732865|OA=1
}} A generalized family-based association test for dichotomous traits.

{{PMID|19838195|OA=1
}} A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.

{{PMID|19956101|OA=1
}} Overview of the Rapid Response data.

{{PMID|19956109|OA=1
}} The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

{{PMID|19961590|OA=1
}} The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease.

{{PMID|20018022|OA=1
}} Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.

{{PMID|20644636|OA=1
}} Study of transcriptional effects in Cis at the IFIH1 locus.

{{PMID|21705624|OA=1
}} 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
|gene=IFIH1
|aa_change=Ala946Thr
|aa_change_short=A946T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1990760
|overall_frequency_n=4934
|overall_frequency_d=10758
|overall_frequency=0.458635
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=38
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|pph2_score=0.001
|nblosum100=1
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23144876
|Title=Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH1
|OA=1
}}

{{PMID Auto
|PMID=23441136
|Title=Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production
|OA=1
}}

{{PMID Auto
|PMID=23734776
|Title=Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: A meta-analysis
}}

{{PMID Auto
|PMID=22789000
|Title=Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease
}}

{{PMID Auto
|PMID=24386202
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=24621100
|Title=A Polymorphism in Melanoma Differentiation-associated Gene 5 May Be a Risk Factor for Enterovirus 71 Infection
}}

{{PMID Auto
|PMID=23108955
|Title=Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population.
}}

{{PMID Auto
|PMID=24960033
|Title=Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}