uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Common variants in the TCF7L2 gene help to differentiate autoimmune from non-autoimmune diabetes in young (15-34 years) but not in middle-aged (40-59 years) diabetic patients
Show others and affiliations
2008 (English)In: Diabetologia, ISSN 0012-186X, E-ISSN 1432-0428, Vol. 51, no 12, 2224-2232 p.Article in journal (Refereed) Published
Abstract [en]


Type 1 diabetes in children is characterised by autoimmune destruction of pancreatic beta cells and the presence of certain risk genotypes. In adults the same situation is often referred to as latent autoimmune diabetes in adults (LADA). We tested whether genetic markers associated with type 1 or type 2 diabetes could help to discriminate between autoimmune and non-autoimmune diabetes in young (15–34 years) and middle-aged (40–59 years) diabetic patients.


In 1,642 young and 1,619 middle-aged patients we determined: (1) HLA-DQB1 genotypes; (2) PTPN22 and INS variable-number tandem repeat (VNTR) polymorphisms; (3) two single nucleotide polymorphisms (rs7903146 and rs10885406) in the TCF7L2 gene; (4) glutamic acid decarboxylase (GAD) and IA-2-protein tyrosine phosphatase-like protein (IA-2) antibodies; and (5) fasting plasma C-peptide.


Frequency of risk genotypes HLA-DQB1 (60% vs 25%, p= 9.4×10−34; 45% vs 18%, p= 1.4 × 10−16), PTPN22 CT/TT (34% vs 26%, p= 0.0023; 31% vs 23%, p= 0.034), INS VNTR class I/I (69% vs 53%, p= 1.3 × 10−8; 69% vs 51%, p= 8.5 × 10−5) and INS VNTR class IIIA/IIIA (75% vs 63%, p=  4.3 × 10−6; 73% vs 60%, p= 0.008) was increased in young and middle-aged GAD antibodies (GADA)-positive compared with GADA-negative patients. The type 2 diabetes-associated genotypes of TCF7L2 CT/TT of rs7903146 were significantly more common in young GADA-negative than in GADA-positive patients (53% vs 43%; p= 0.0004). No such difference was seen in middle-aged patients, in whom the frequency of the CT/TT genotypes of TCF7L2 was similarly increased in GADA-negative and GADA-positive groups (55% vs 56%).


Common variants in the TCF7L2 gene help to differentiate young but not middle-aged GADA-positive and GADA-negative diabetic patients, suggesting that young GADA-negative patients have type 2 diabetes and that middle-aged GADA-positive patients are different from their young GADA-positive counterparts and share genetic features with type 2 diabetes.

Place, publisher, year, edition, pages
2008. Vol. 51, no 12, 2224-2232 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-211251DOI: 10.1007/s00125-008-1161-2PubMedID: 18839133OAI: oai:DiVA.org:uu-211251DiVA: diva2:666210
Available from: 2013-11-22 Created: 2013-11-21 Last updated: 2013-11-27Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Eriksson, Jan W
In the same journal
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 185 hits
ReferencesLink to record
Permanent link

Direct link