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Prediction of type 2 diabetes mellitus by genetic factors and clinical risk score

Martin Javorský, Ivan Tkáč

Identification of people at high risk of type 2 diabetes (T2DM) is a major prerequisite for effective implementation of prevention or delay of this chronic disease and its complications. Multiple clinical, anthropometric and biochemical parameters have been associated with increased risk of T2DM development. Several risk scores have been developed that use combinations of these factors, because it improves prediction of T2DM. However, large proportion of patients that develop T2DM are not identified as „at high risk“. Recent genome-wide association studies have identified genetic polymorphisms that have been consistently associated with T2DM. Can these genetic polymorphisms improve prediction of T2DM? Here we review several prospective studies in Caucasian populations that have compared prognostic capability of 1) clinical and biochemical risk score, 2) genotype score and 3) and their combinations. Discrimination (C-index) was consistently higher for clinical and biochemical risk score (phenotype-derived), compared with the genotype score. Addition of genotype score to did not have any relevant effect on improvement of discrimination, calibration or reclassification measures of the phenotype-derived score, in most studies. The genetic polymorphisms associated so far with T2DM do not improve the T2DM prediction based on current clinical/biochemical risk scores.
Keywords: type 2 diabetes, prediction, clinical risk score, genotype score, prevention, risk stratification

Ročník 2010  Témy časopisu Internal medicine 4 / 2010

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doc. MUDr. Ján Staško, PhD.
doc. MUDr. Mária Szántová, PhD.
prof. MUDr. Ivan Tkáč, PhD.

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