Can ADAMTS13 Lead Us to the Paradise of Personalized Medicine?

  1. Maria Lajer1
  1. 1Steno Diabetes Center, Gentofte, Denmark
  2. 2Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark
  3. 3Faculty of Health Services, University of Aarhus, Aarhus, Denmark.
  1. Corresponding author: Peter Rossing, pro{at}steno.dk.

Diabetic micro- and macrovascular complications are a major concern for patients with diabetes because they increase morbidity and mortality risk. Diabetes complications are also an economic challenge for both patients and society. Although multifactorial interventions consisting of lifestyle modification and aggressive treatment of hyperglycemia, hypertension, and dyslipidemia reduce progression of microvascular complications, development of cardiovascular events, and mortality by 50% in type 2 diabetes (1), the clinical course and treatment response varies among patients, and some have to halt treatment due to adverse events.

Addressing traditional modifiable risk factors such as blood glucose, blood pressure, cholesterol, and smoking is useful, but is not sufficient to obtain optimal individual treatment or to predict response to treatment. Potential inclusion of genetic information (pharmacogenomics), termed “personalized medicine,” may help fill this gap.

Familial clustering of diabetic nephropathy and cardiovascular disease in diabetes (25) has led to a search for genetic risk markers for nephropathy and other complications. Hypothesis-driven evaluations of candidate genes and recent unbiased genome-wide association study analyses have been applied. Although several genetic markers have been identified, they have modest importance and none has been implemented for clinical use (6,7).

Hypothesis-driven research has often focused on genes associated with cardiovascular disease (CVD), with an early focus on an insertion (I)/deletion (D) polymorphism in the ACE gene. …

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