Genetic Variants and Phenotypic Characteristics of Patients With T2DM

Background: Genetic risk-markers associated with T2DM are thoroughly studied. So far, only a few genetic variants, also termed single nucleotide polymorphisms (SNP's), have been replicated in several studies and each of them gives only limited explanation for the growing incidence of T2DM. The hypothesis of the present study is that determination of combinations of genetic variants by SNP-chip technology may improve the prediction of T2DM, complications and efficacy of treatment compared to the methods previously used including genome wide association (GWA) studies. The SNP-chip/ DNA microarray makes it possible to study several SNP's association with T2DM, one by one but also in combination.

Aims: To study whether specific genetic variants, and combinations of these, 1) are present with higher prevalence in patients with T2DM than in the normal population, 2) are associated with specific diabetes-related complications and 3) the effect of the anti-diabetic treatment.

Methods: During the next three years 1000 patients with T2DM and 1000 healthy, non-diabetic persons will be included in the study, and examined by blood samples, a questionnaire and clinical evaluation, all in one visit. Initially, we will perform DNA analyses on blood samples from 372 patients included in another clinical study from our department. Description of genetics will be done by a DNA-chip with approximately 70 SNP's, which have previously been reported to be associated with T2DM.

Results and conclusions: It is expected that the result of this project can help us predicting T2DM, diabetes-related complications and individualizing treatment to the individual patient with T2DM.