2008
DOI: 10.1093/hmg/ddn342
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IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells

Abstract: Genome-wide association (GWA) studies revealed a number of single nucleotide polymorphisms (SNPs) significantly associated with type 1 diabetes (T1D). In an attempt to confirm some of these candidate associations, we genotyped 2046 Caucasian patients and 2417 normal controls from the United States for SNPs in five genomic regions. While no evidence was obtained for four genomic regions (rs2929366/NM_144715 on chromosome 3, rs9127/Q7Z4C4 on chromosome 5, rs1445898/CAPSL on chromosome 5 and rs2302188/NM_033543 o… Show more

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Cited by 145 publications
(166 citation statements)
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“…(51) suggest that the rs1990760 No significant association with T1DM (58) polymorphism may affect the sequence of the HNF-3b transcription factor binding site in the IFIH1 gene, whereas the rs3747517 polymorphism may alter the binding site for the AP-1 transcription factor. As both polymorphisms are located 45-50kb from the start codon, it has yet to be determined whether these variants really play a role in the regulation of IFIH1 expression or are merely in linkage disequilibrium with a functional polymorphism in this region (42,51). The rs13422767 and rs2111485 polymorphisms are located within the 3' intergenic region adjacent to the IFIH1 gene, 23kb and 13kb from the end of the 3'-UTR of the gene respectively.…”
Section: Ifih1 Gene Polymorphisms and Their Association With T1dmmentioning
confidence: 97%
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“…(51) suggest that the rs1990760 No significant association with T1DM (58) polymorphism may affect the sequence of the HNF-3b transcription factor binding site in the IFIH1 gene, whereas the rs3747517 polymorphism may alter the binding site for the AP-1 transcription factor. As both polymorphisms are located 45-50kb from the start codon, it has yet to be determined whether these variants really play a role in the regulation of IFIH1 expression or are merely in linkage disequilibrium with a functional polymorphism in this region (42,51). The rs13422767 and rs2111485 polymorphisms are located within the 3' intergenic region adjacent to the IFIH1 gene, 23kb and 13kb from the end of the 3'-UTR of the gene respectively.…”
Section: Ifih1 Gene Polymorphisms and Their Association With T1dmmentioning
confidence: 97%
“…Several IFIH1 polymorphisms were associated with T1DM, with the rs1990760 (G/A) polymorphism, which substitutes an alanine to valine in codon 946 of exon 15, being most strongly associated with protection against development of the disease (odds ratio [OR] = 0.86, P = 1.42 x 10 -10 for the G allele) (50). Associations between IFIH1 polymorphisms and T1DM have been replicated in some populations (29,(51)(52)(53)(54)(55), but not in others (56)(57)(58) (Table 1). Jermendy and cols.…”
Section: Ifih1 Gene Polymorphisms and Their Association With T1dmmentioning
confidence: 99%
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“…Higher levels of IFIH1 are found in the PBMCs of individuals with the susceptible polymorphisms of this gene [71]. Additionally, several polymorphisms of this gene have been found to be protective for T1D [72].…”
Section: Genetic Factors In T1dmentioning
confidence: 99%