SPC365

Importance of a genetic score in assessing the risk of arterial stiffness

Session: Posters (Sessão 4 - Écran 5) - Risco Cardiovascular 2
Speaker: Ana Célia Sousa

Congress: CPC 2022
Topic: J. Preventive Cardiology
Theme: 28. Risk Factors and Prevention
Subtheme: 28.14 Risk Factors and Prevention - Other
Session Type: Pósters Electrónicos
FP Number: ---
Authors: Ana Célia Sousa; Maria Isabel Mendonça; André Ferreira; Diogo André; Fabiana Gouveia; Jéssica Chaves; Mariana Rodrigues; Sofia Borges; Eva Henriques; Sónia Freitas; Ana Isabel Freitas; Maria João Oliveira; Ilídio Ornelas; Roberto Palma Dos Reis

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,&quot;sans-serif&quot;"><span style="font-size:12.0pt"><span style="color:#231f20">Arterial stiffness is a risk factor for cardiovascular disease and can be assessed by the gold standard technique carotid-femoral pulse wave velocity (PWV). Several factors have been previously described as associated with increased arterial stiffness, including genetic factors, but sometimes results are unclear.</span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt"><span style="color:#231f20">Objective:</span></span></strong><span style="font-size:12.0pt"><span style="color:#231f20"> Create a score with pathophysiologically associated genes to determine the risk of increased arterial stiffness.</span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt"><span style="color:#231f20">Methods: </span></span></strong><span style="font-size:12.0pt"><span style="color:#231f20">In a sample of 1712 individuals, we evaluated the arterial stiffness through cfPWV determination by the Complior method. Population was stratified into two groups: 171 cases with PWV&ge;10m/s (mean age 56.70&plusmn;8.43; 60.8% male) and 1541 controls with PWV&lt;10m/s (mean age 50.39&plusmn;7.53; 49.9% male).<strong> </strong>All collected blood for biochemical and genetic analysis.<strong> </strong>Fourteen genetic variants were selected: those of the renin-angiotensin-aldosterone system (</span></span><span style="font-size:12.0pt"><span style="color:black">AGT rs4762, AGT rs699, ACE rs4340, ACE rs4343, AGT1R rs5186, CYP11B2 rs1799998)</span></span><span style="font-size:12.0pt"><span style="color:#231f20">; those for sodium and water balance (</span></span><span style="font-size:12.0pt"><span style="color:black">SCNN1G rs5718 and ADD1 rs4961); </span></span><span style="font-size:12.0pt"><span style="color:#231f20">those for the Sympathetic Adrenergic System</span></span><span style="font-size:12.0pt"><span style="color:black"> (ADR&beta;1 rs1801253 and ADR&beta;2 rs1042713) </span></span><span style="font-size:12.0pt"><span style="color:#231f20">as well as other genes that act in other systems such as</span></span><span style="font-size:12.0pt"><span style="color:black"> CYP17A1 rs11191548, ATP2B1 rs2681472, </span></span><span style="font-size:12.0pt"><span style="color:#231f20">SLC4A2 rs2303934</span></span><span style="font-size:12.0pt"><span style="color:black"> and GN&beta;3 rs5443. </span></span><span style="font-size:12.0pt"><span style="color:#231f20">Odds ratio (OR) was calculated for each variant and a multiplicative genetic risk score (mGRS) was calculated. This score was divided into tertiles, with the 1<sup>st</sup> tertile as the reference class</span></span> <span style="font-size:12.0pt"><span style="color:#231f20">and we compared the 3rd with the 1st tertile in relation to PWV increase.</span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt"><span style="color:#231f20">Results:</span></span></strong><span style="font-size:12.0pt"><span style="color:#231f20"> The highest tertile of genetic score presented an increased PWV risk with an OR of 2.186 (1.462-3.270) compared to the 1st tertile, with statistical significance (p&lt;0.0001) (table).</span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,&quot;sans-serif&quot;"><strong><span style="font-size:12.0pt"><span style="color:#231f20">Conclusion:</span></span></strong><span style="font-size:12.0pt"><span style="color:#231f20"> The results of this study show that the mGRS, based on pathophysiological genetic markers, was associated with higher PWV values. This score can be very useful in predicting the arterial stiffness increase and, consequently, the cardiovascular risk in general population.</span></span></span></span></p>