Genetics of type 1 diabetes mellitus

Pociot, Flemming; McDermott, Michael F.

doi:10.1038/sj.gene.6363875

Cited by 298 publications

(238 citation statements)

References 249 publications

(300 reference statements)

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“…1,2 Several studies have shown beta-cells to be sensitive to cytokines such as interleukin-1 beta (IL-1b), tumor necrosis factor-alpha (TNF-a) and interferon-gamma (IFN-g), [3][4][5] and when exposed to the above-mentioned cytokines the beta-cell undergoes destruction. 3,6 NFkB is known to regulate some of the genes involved in cytokine-induced gene activation 6 .…”

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confidence: 99%

Characterization of a nuclear-factor-kappa B (NFκB) genetic marker in type 1 diabetes (T1DM) families

et al. 2002

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Cytokine-induced beta-cell death is an important factor in the pathogenesis of type 1 diabetes mellitus (T1DM). The transcription factor NFkB plays an important role in cytokine-induced gene activation. Hence, NFKB1 is a possible candidate gene for T1DM disposition. A polymorphic (CA) dinucleotide repeat microsatellite has been identified near the NFKB1 gene. In a recent case-control study certain alleles of this NFKB1 microsatellite marker showed strong association to T1DM. The aim of our study was to investigate whether the association between the NFKB1 marker and T1DM could be confirmed in a Danish family collection. No T1DM association for any allele of the NFKB1 microsatellite marker could however be demonstrated in Danish T1DM families. In conclusion, we could not confirm the highly significant T1DM association of certain alleles of the NFKB1 marker previously reported.

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Characterization of a nuclear-factor-kappa B (NFκB) genetic marker in type 1 diabetes (T1DM) families

et al. 2002

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“…The role of Th2-mediated mechanisms in type 1 diabetes has attracted much attention in recent years [2]; given the importance of genetic susceptibility in the aetiology of type 1 diabetes [3] it is reasonable to hypothesise a role for genetic variation of IL4R in disease development. Some other autoimmune diseases or allergic conditions, such as asthma [4,5], primary Sjogren's syndrome [6], penicillin allergy [7] and atopic dermatitis [8], have been reported to be associated with the IL4R polymorphisms in recent years.…”

Section: Introductionmentioning

confidence: 99%

Lack of association of type 1 diabetes with the IL4R gene

Tessier

Fréchette

et al. 2006

Diabetologia

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Aims/hypothesis: The association between IL4R and type 1 diabetes has been tested in many studies in recent years, with contradictory results. The aim of this study was to re-evaluate the genetic association in type 1 diabetic nuclear families of mixed European background. Subjects, materials and methods: We genotyped six nonsynonymous single-nucleotide polymorphisms (SNPs) of the IL4R gene in 830 nuclear families as specified above, including a French Canadian subset. Results: No association between type 1 diabetes and any SNP or haplotype was found by the transmission disequilibrium test.

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“…1 The major contribution to familial clustering of T1DM comes from genes located to the major histocompatibility region on chromosome 6, although the specific haplotypes and the strength of the associations vary between ethnic groups. HLA genotype plays an important role in Southern India, with HLA-DQB01*0302 and *0201 haplotypes being positively associated with T1DM.…”

Section: Introductionmentioning

confidence: 99%

“…2 Furthermore, whereas an association between the insulin gene hypervariable region and T1DM has been found in most ethnic groups, this has not been found in South Indian subjects. 1,3 It is therefore conceivable that individuals with T1DM in South India might have input from a greater range of different susceptibility loci compared to other ethnic groups.…”

Section: Introductionmentioning

confidence: 99%

The EIF2AK3 gene region and type I diabetes in subjects from South India

Mohan²,

McDermott³

et al. 2004

Genes Immun

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Mutations in the EIF2AK3 gene underlie susceptibility to the Wolcott-Rallison syndrome, which is a monogenic disease associated with insulin-deficient neonatal diabetes. Furthermore, suggestive evidence of linkage between type 1 diabetes (T1DM) and the EIF2KA3 chromosomal region has been reported in Scandinavian families. We have investigated the hypothesis that polymorphic variants in and around the EIF2AK3 gene might partially account for susceptibility to T1DM in South Indian subjects. Excess transmission of the common alleles of two polymorphic markers (D2S1786 and 15INDEL, located within the gene) downstream of EIF2AK3, either singly (D2S1786, P ¼ 0.01) and 15INDEL (P ¼ 0.02) or as a combination (Po0.001), were found in 234 families with a T1DM proband. There was also a clear paternal effect for the 15INDEL marker (P ¼ 0.005) on disease susceptibility. The presence of the common allele of both markers was found in decreased frequency in the subjects with normal glucose tolerance compared to probands with T1DM (both Pp0.0001). Major common mutations of the EIF2AK3 gene in T1DM were excluded. In conclusion, this pilot study demonstrates an association between the region around the EIF2AK3 locus and T1DM susceptibility.

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Genetics of type 1 diabetes mellitus

Cited by 298 publications

References 249 publications

Characterization of a nuclear-factor-kappa B (NFκB) genetic marker in type 1 diabetes (T1DM) families

Characterization of a nuclear-factor-kappa B (NFκB) genetic marker in type 1 diabetes (T1DM) families

Lack of association of type 1 diabetes with the IL4R gene

The EIF2AK3 gene region and type I diabetes in subjects from South India

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