IFIH1 gene polymorphisms in type 1 diabetes: Genetic association analysis and genotype–phenotype correlation in the Belgian population

Aminkeng, Folefac; Autreve, Jan E. Van; Weets, Ilse; Quartier, Erik; Schravendijk, Christiaan Van; Gorus, Frans; Auwera, Bart J. Van der

doi:10.1016/j.humimm.2009.06.013

Cited by 17 publications

(15 citation statements)

References 24 publications

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“…Furthermore, a US study reported an association between the IFIH1 rs1990760 and type 1 diabetes in the population of Georgia (state), USA; however, the authors could not replicate this finding in a population from the state of Colorado, USA [6]. In addition, a very recent Belgian study reported no association [7], whereas another report by Nejentsev et al suggested that multiple additional rare variants of IFIH1 may contribute to disease susceptibility [10]. Therefore, the confirmation of the disease association of IFIH1 rs1990760 was awaited, especially in Europeans.…”

Section: Discussionmentioning

confidence: 91%

“…Nevertheless, to address the contribution of IFIH1 rs1990760 polymorphism to type 1 diabetes and to assess the heterogeneity between populations of European ancestry, we conducted a meta-analysis on previously published studies [2,6,7] including ours, using allelic genetic model. In this meta-analysis convincing statistical evidence was provided for an influence of the IFIH1 rs1990760 A allele on type 1 diabetes risk.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, our study was tailored to provide a deeper insight into the genetics of type 1 diabetes in populations with different frequencies of enteroviral infection. In addition, because of the relatively modest effect conferred by the IFIH1 Ala946Thr variant, we conducted a meta-analysis of the association studies published so far [2,6,7], including our new datasets, to address the contribution of IFIH1 rs1990760 polymorphism to type 1 diabetes. Furthermore, we examined the heterogeneity between the populations studied.…”

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confidence: 99%

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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

et al. 2009

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Aims/hypothesis The rs1990760 polymorphism (Ala946Thr) of interferon induced with helicase C domain 1 (IFIH1) has been proposed to associate with type 1 diabetes. In this study, association between IFIH1 Ala946Thr and type 1 diabetes was investigated in two distinct white populations, the Hungarians and Finns. Methods The rs1990760 polymorphism was genotyped in 757/509 Hungarian/Finnish childhood-onset cases, 499/250 Hungarian/Finnish control individuals and in 529/924 Hungarian/Finnish nuclear family trios. Disease association was tested using case-control and family-based approaches. A meta-analysis of data from 9,546 cases and 11,000 controls was also performed.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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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

et al. 2009

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“…Including the present study, we gathered seven publications with data on the rs7574865 SNP (Lee et al, 2008;Martínez et al, 2008a;Zervou et al, 2008;Howson et al, 2011;Park et al, 2011;Bi et al, 2013) and ten for the rs1990760 SNP (Smyth et al, 2006(Smyth et al, , 2008Martínez et al, 2008b;Aminkeng et al, 2009;Jermendy et al, 2009;Liu et al, 2009;Schulte et al, 2010;Yang et al, 2012;Bouças et al, 2013;Zurawek et al, 2015). The total number of cases and controls was 1392 and 1629 for the rs7574865 SNP and 25,092 and 28,544 for the rs1990760 SNP, respectively.…”

Section: Resultsmentioning

confidence: 99%

Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III

Silva¹,

Tavares²,

Santos³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Type 1 diabetes mellitus (T1D) is an organ-specific autoimmune disease characterized by T-cell mediated self-destruction of insulinproducing β cells in the pancreas. T1D patients are prone to develop other glandular autoimmune disorders, such as autoimmune thyroid disease that occurs simultaneously with autoimmune polyglandular syndrome type III (APSIII). Signal transducer and activator of transcription 4 (STAT4) is a wellknown regulator of proinflammatory cytokines, and interferon-induced with helicase C domain 1 (IFIH1) is activated in the interferon type I response. Both genes have been examined separately in autoimmune diseases and, 17731STAT4 and IFIH1 SNPs in T1D and APSIII ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 17730-17738 (2015) in this study, we assessed their joint role in T1D and APSIII. We conducted a case-control study, enrolling 173 T1D patients and 191 healthy controls from northeastern Brazil, to assess the distribution of the rs7574865 and rs3024839 SNPs in STAT4 and the rs3747517 and rs1990760 SNPs in IFIH1 in T1D and APSIII patients. Additionally, we conducted a metaanalysis with the rs7574865 SNP in STAT4 (1392 T1D patients and 1629 controls) and the rs1990760 SNP in IFIH1 (25092 T1D patients and 28544 controls) to examine their association with T1D. Distribution of STAT4 and IFIH1 allelic frequencies did not show statistically significant differences between T1D patients and controls in our study population; however, the meta-analysis indicated that SNPs in STAT4 and IFIH1 are associated with T1D worldwide. Our findings indicate that although STAT4 and IFIH1 SNPs are not associated with T1D in a Brazilian population, they might play a role in susceptibility to T1D on a larger worldwide scale.

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“…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%

The role of interferon induced with helicase C domain 1 (IFIH1) in the development of type 1 diabetes mellitus

Bouças

Oliveira

Canani

et al. 2013

Arq Bras Endocrinol Metab

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Type 1 diabetes mellitus (T1DM) is a chronic, progressive, autoimmune disease characterized by metabolic decompensation frequently leading to dehydration and ketoacidosis. Viral pathogens seem to play a major role in triggering the autoimmune destruction that leads to the development of T1DM. Among several viral strains investigated so far, enteroviruses have been consistently associated with T1DM in humans. One of the mediators of viral damage is the double-stranded RNA (dsRNA) generated during replication and transcription of viral RNA and DNA. The IFIH1 gene encodes a cytoplasmic receptor of the pattern-recognition receptors (PRRs) family that recognizes dsRNA, playing a role in the innate immune response triggered by viral infection. Binding of dsRNA to this PRR triggers the release of proinflammatory cytokines, such as interferons (IFNs), which exhibit potent antiviral activity, protecting uninfected cells and inducing apoptosis of infected cells. The IFIH1 gene appears to play a major role in the development of some autoimmune diseases, and it is, therefore, a candidate gene for T1DM. Within this context, the objective of the present review was to address the role of IFIH1 in the development of T1DM. Arq Bras Endocrinol Metab. 2013;57(9):667-76 Keywords Autoimmunity; type 1 diabetes mellitus; viral infection; IFIH1 RESUMO O diabetes melito tipo 1 (T1DM) é uma doença autoimune crônica e progressiva caracterizada por descompensações metabólicas frequentemente acompanhadas por desidratação e cetoacidose. Os agentes virais parecem ter um papel importante no desencadeamento da destruição autoimune que leva ao desenvolvimento do T1DM. Entre as cepas virais estudadas até agora, a família dos enterovírus foi consistentemente associada ao surgimento da doença em humanos. Um dos mediadores do dano viral é o RNA fita dupla (RNAfd) gerado durante a replicação e transcrição de RNA e DNA viral. O gene IFIH1 codifica um receptor citoplasmático pertencente à família dos pattern-recognition receptors (PRRs) que reconhece o RNAfd, tendo um papel importante na resposta imune inata desencadeada por infecção viral. A ligação do RNAfd a essa PRR desencadeia a liberação de citocinas pró-inflamatórias como interferons (IFNs), os quais exibem uma potente ação antiviral e têm como objetivo proteger as células não infectadas e induzir apoptose naquelas já contaminadas. O gene IFIH1 parece ter uma participação importante no desenvolvimento de algumas doenças autoimunes. Por isso, esse gene é um candidato ao desenvolvimento do T1DM. Dentro desse contexto, o objetivo da presente revisão foi abordar o papel do IFIH1 no desenvolvimento do T1DM. Arq Bras Endocrinol Metab.2013;57(9):667-76 Descritores Autoimunidade; diabetes melito tipo 1; infecção viral; IFIH1

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IFIH1 gene polymorphisms in type 1 diabetes: Genetic association analysis and genotype–phenotype correlation in the Belgian population

Cited by 17 publications

References 24 publications

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

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

Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III

The role of interferon induced with helicase C domain 1 (IFIH1) in the development of type 1 diabetes mellitus

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