SPC365

The genetic polymorphism of Alpha-adducin 1 is associated with increased arterial stiffness in a diabetic population

Session: Sessão de Posters 19 - Genética em Cardiologia 1
Speaker: Rui Fernandes

Congress: CPC 2024
Topic: F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme: 20. Congenital Heart Disease and Pediatric Cardiology
Subtheme: 20.6 Congenital Heart Disease – Clinical
Session Type: Cartazes
FP Number: ---
Authors: Rui Fernandes; Ana Célia Sousa; Fabiana Gouveia; Mauro Fernandes; André Ferreira; Eva Henriques; Mariana Rodrigues; Sofia Borges; Maria João Oliveira; Graça Guerra; Maria Isabel Mendonça; Roberto Palma Dos Reis

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt">Introduction:</span></strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><span style="font-size:12.0pt">Arterial stiffness is a well-known predictor of atherosclerosis, determining cardiovascular morbidity and mortality. Diabetes is one of the main risk factors for cardiovascular disease. Several studies have shown that diabetics have increased arterial stiffness. Some factors, including genetic, condition this increase. However, it is unknown which genetic factors are associated with increased arterial stiffness.</span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt">Objectives:</span></strong></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><span style="font-size:12.0pt">1. Study in a Portuguese population whether diabetes influence an increase in arterial stiffness </span><span style="font-size:12.0pt"><span style="background-color:white">assessed by carotid&ndash;femoral pulse wave velocity (</span></span><span style="font-size:12.0pt">PWV).</span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"><span style="font-size:12.0pt">2. Whether the genetic variant alpha-adducin 1 (G460W, ADD1 rs4961) is associated with increased PWV in the diabetic group.</span></span></span></p>

<pre style="text-align:justify">
<span style="font-size:10pt"><span style="font-family:&quot;Courier New&quot;"><strong><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;">Methods:</span></span></strong> </span></span></pre>

<pre style="text-align:justify">
<span style="font-size:10pt"><span style="font-family:&quot;Courier New&quot;"><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;">With a sample of 1712 individuals, we constituted two groups depending on whether they had diabetes (n= 203) or not (n=1509). We determined the PWV for all individuals using the Complior method. Subsequently, the diabetic population was subdivided in 2 groups depending on whether they had high PWV (n=44) or not (n=159). PWV was considered high if PWV &ge; 10 m/s. Blood was collected from all individuals for biochemical and genetic analyses. The frequency of ADD1 rs4961 in the group of diabetics with high PWV was compared to that in diabetics with lower PWV. Finally, we calculated the Odds Ratio (OR) to assess the risk of diabetic individuals, carrying the ADD1 460WW polymorphism, of having increased arterial stiffness.</span></span></span></span></pre>

<pre style="text-align:justify">
<span style="font-size:10pt"><span style="font-family:&quot;Courier New&quot;"><strong><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;">Results:</span></span></strong></span></span></pre>

<pre style="text-align:justify">
<span style="font-size:10pt"><span style="font-family:&quot;Courier New&quot;"><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;">Our results show that the diabetic population has a significantly higher mean PWV relatively to non-diabetic population (8.97&plusmn;2.03 versus 7.92&plusmn;1.37; p&lt;0.0001). The WW polymorphism of ADD1 was more frequent in the group of diabetics with high PWV compared to lower PWV (11.4% versus 2.5%; p&lt;0.024). Diabetic individuals carrying the ADD1 460WW genetic variant have an increased risk of having high PWV (OR=4.97; 1.27-19.37) compared to the others (ADD1 460GG + ADD1 460GW); p= 0.012.</span></span></span></span></pre>

<pre style="text-align:justify">
<span style="font-size:10pt"><span style="font-family:&quot;Courier New&quot;"><strong><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;">Conclusions:</span></span></strong><span style="font-size:12.0pt"><span style="font-family:&quot;Calibri&quot;,&quot;sans-serif&quot;"> With our results, we proved that diabetes is associated with an increase in arterial stiffness. Diabetics who carry the ADD1 460WW genetic variant have a higher risk of developing arterial stiffness compared to those who do not have. They must take special care in behavioral terms, to counter this genetic tendency and thus reduce their cardiovascular risk.</span></span></span></span></pre>