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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-12

AUTHORS

S Onengut-Gumuscu, K G Ewens, R S Spielman, P Concannon

ABSTRACT

Type I diabetes (T1D) is a complex disorder, which arises from the autoimmune destruction of the insulin-secreting beta cells of the pancreas leading to a life-long dependence on exogenous insulin. A recent study of T1D cases and controls provided evidence for association between an allele of a functional single-nucleotide polymorphism (SNP) in the PTPN22 gene and T1D. In the current study, this SNP was genotyped in a collection of 406 multiplex T1D families. Significant evidence of the combined presence of association and linkage to T1D was obtained (P = 2.5 x 10(-5)). Linkage studies in subsets of families defined by PTPN22 SNP genotypes suggest possible interaction with loci on chromosomes 3 and 21. Previous genome scans in this collection of T1D families, and others, have not yielded significant evidence of linkage in the region of the PTPN22 locus. However, the highly significant evidence of allelic association suggests that variation at, or near, this functional SNP contributes to the risk of T1D. More... »

PAGES

6364138

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.gene.6364138

DOI

http://dx.doi.org/10.1038/sj.gene.6364138

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1009277103

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15526003


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