Variant "IFIH1:c.1641+1G>C"
Search results: 2 records
Variant information
Gene:
IFIH1 
Variant:
IFIH1:c.1641+1G>C 
Genomic location:
chr2:163136505(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_022168.3:c.1641+1G>C
Alias:
IFIH1:IVS8+1 
dbSNP ID:
rs35337543  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Type 1 Diabetes Mellitus (DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.000044 
    Effect:
    Reduced risk of type 1 diabetes
    Alias in reference:
    IFIH1:c.1641+1G>C
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
  • Target disease:
    Type 1 Diabetes Mellitus (DOID_9744)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.68, 95% CI: (0.56-0.83), P=1.1×10(-4) 
    Effect:
    Reduced risk of T1DM
    Alias in reference:
    IFIH1:IVS8+1
    Reference:
    PMID19264985
    Title:
    Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
    Species studied:
    Human
    Abstract:
    Genome-wide association studies (GWASs) are regularly used to map genomic regions contributing to common human diseases, but they often do not identify the precise causative genes and sequence variants. To identify causative type 1 diabetes (T1D) variants, we resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants. We discovered four rare variants that lowered T1D risk independently of each other (odds ratio = 0.51 to 0.74; P = 1.3 x 10(-3) to 2.1 x 10(-16)) in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with T1D by GWASs. These variants are predicted to alter the expression and structure of IFIH1 [MDA5 (melanoma differentiation-associated protein 5)], a cytoplasmic helicase that mediates induction of interferon response to viral RNA. This finding firmly establishes the role of IFIH1 in T1D and demonstrates that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.