Endocrine Abstracts (2009) 20 P390

Prevalence of cardiovascular risk polymorphisms and its association with microvascular complications in an adolescent type 1 diabetes population

Miguel Melo, Ana Fagulha, Luisa Barros, Jacinta Santos, Alexandra Vieira & Manuela Carvalheiro


University Hospital of Coimbra, Coimbra, Portugal.


Objectives: To determine the prevalence of several polymorphisms associated with increased cardiovascular risk in a group of adolescents with T1DM. To study the possible association of some polymorphisms with the occurrence of microvascular complications.

Methods: Patients were randomly selected from our outpatient clinic. The following polymorphisms were studied:: ACE Ins/Del, Apo B R3500Q, Apo E2, 3, 4, MTHFR C677T and A1298C, PAI 4G/5G, ITGB3 PL(A1)/(A2) and FGB G/A-45. We compared the prevalence of each genotype between the groups with and without microvascular complications (nephropathy and retinopathy). We took into consideration patient’s age, diabetes duration, mean A1C values in the last year and lipid profile to characterize the population and adjust between groups.

Results: A total of 33 patients were studied (54.3% female), with a mean age of 19.8±3.1 years and mean diabetes duration of 9.1±5.3 years. Mean A1C was 8.2±1.6%. Four patients (12.1%) had hypertension, five patients (15.2%) had incipient nephropathy and three patients had background retinopathy. The frequency of heterozygotes for each polymorphism was: ACE Ins/Del=19 (57.6%); Apo B R3500Q=0; Apo E 2=9 (27.3%); MTHFR C677T=14 (42.4%); MTHFR A1298C=13 (39.4%); PAI 4G/5G=17 (51.5%), ITGB3 PL (A1)/A2=11 (33.3%), FGB G/A-455=15 (45.5%). None of the patients was homozygote. The ACE Ins/Del polymorphism was more frequent in the group of patients with hypertension (P<0.001), nephropathy (P=0.001) and retinopathy (P<0.001). The frequency of other polymorphisms was similar in the groups with and without complications.

Conclusions: The frequency of the polymorphisms studied was overall similar to the expected in a Caucasian population (PAI and ITGB3 slightly above the estimated). The ACE Ins/Del polymorphism was more frequent in the group of patients with hypertension, nephropathy and retinopathy. These data suggest that this polymorphism may have a role in determining blood pressure values and increased susceptibility to microvascular complications. Knowing this genotype may have implications regarding the therapeutic strategy designed to prevent both macrovascular and microvascular complications.

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