Reference : The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes
Scientific journals : Article
Human health sciences : Multidisciplinary, general & others
http://hdl.handle.net/10993/27357
The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes
English
Nielsen, L.B. []
Pörksen, S. []
Andersen, M.L. []
Fredheim, S. []
Svensson, J. []
Hougaard, P. []
Vanelli, M. []
Åman, J. []
Mortensen, H.B. []
Hansen, L. []
De Beaufort, Carine mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
23-Mar-2011
BMC Medical Genetics
BioMed Central
12
41
Yes (verified by ORBilu)
1471-2350
[en] childhood diabetes ; PTPN22 ; proinsulin ; C1858T ; type 1 diabetes
[en] BACKGROUND:
The protein tyrosine phosphatase nonreceptor type 2 (PTPN22) has been established as a type 1 diabetes susceptibility gene. A recent study found the C1858T variant of this gene to be associated with lower residual fasting C-peptide levels and poorer glycemic control in patients with type 1 diabetes. We investigated the association of the C1858T variant with residual beta-cell function (as assessed by stimulated C-peptide, proinsulin and insulin dose-adjusted HbA1c), glycemic control, daily insulin requirements, diabetic ketoacidosis (DKA) and diabetes-related autoantibodies (IA-2A, GADA, ICA, ZnT8Ab) in children during the first year after diagnosis of type 1 diabetes.
METHODS:
The C1858T variant was genotyped in an international cohort of children (n = 257 patients) with newly diagnosed type 1 diabetes during 12 months after onset. We investigated the association of this variant with liquid-meal stimulated beta-cell function (proinsulin and C-peptide) and antibody status 1, 6 and 12 months after onset. In addition HbA1c and daily insulin requirements were determined 1, 3, 6, 9 and 12 months after diagnosis. DKA was defined at disease onset.
RESULTS:
A repeated measurement model of all time points showed the stimulated proinsulin level is significantly higher (22%, p = 0.03) for the T allele carriers the first year after onset. We also found a significant positive association between proinsulin and IA levels (est.: 1.12, p = 0.002), which did not influence the association between PTPN22 and proinsulin (est.: 1.28, p = 0.03).
CONCLUSIONS:
The T allele of the C1858T variant is positively associated with proinsulin levels during the first 12 months in newly diagnosed type 1 diabetes children.
http://hdl.handle.net/10993/27357

File(s) associated to this reference

Fulltext file(s):

FileCommentaryVersionSizeAccess
Open access
nielsen et al. 2011 The PTPN22 C1858T gene variant.pdfPublisher postprint237.72 kBView/Open

Bookmark and Share SFX Query

All documents in ORBilu are protected by a user license.