A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions.

@article{Nerup2001AGS,
  title={A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: identification of new loci with evidence of interactions.},
  author={Jan Nerup and Flemming Pociot},
  journal={American journal of human genetics},
  year={2001},
  volume={69 6},
  pages={
          1301-13
        }
}
  • J. NerupF. Pociot
  • Published 11 October 2001
  • Biology
  • American journal of human genetics
Type 1 diabetes mellitus (TIDM) has a multifactorial etiology, with major genetic-susceptibility determinants located in the HLA and insulin-gene (INS) regions. Linkage data implicating other disease-susceptibility loci are conflicting. This is likely due to (1) the limited power for detection of contributions of additional susceptibility loci, given the limited number of informative families available for study, (2) factors such as genetic heterogeneity between populations, and (3) potential… 
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The molecular genetic etiology by whole-exome sequence (WES) analysis in cases with familial T1DM with no or weakly detected HLA tissue type susceptibility was investigated to identify new genes responsible for the development of type 1 diabetes and to reveal new genes that have not been shown in the literature before.

A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families

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Linkage and association with type 1 diabetes on chromosome 1q42.

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Non HLA genetic markers association with type-1 diabetes mellitus

The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients

The results suggest that the T AF5L gene, encoding TAF5L-like RNA polymerase II p300/CBP associated factor (PCAF)-associated factor, could represent the susceptibility gene for T1D on chromosome 1q42 in Russian affected patients.

Interaction and association analysis of a type 1 diabetes susceptibility locus on chromosome 5q11-q13 and the 7q32 chromosomal region in Scandinavian families.

It is concluded that pathway-restricted linkage analysis assists in the identification of possible gene-gene interactions and that 5q11-q13 and 7q32 together constitute a significant susceptibility factor for type 1 diabetes.
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