Sircana, Antonio (2017) Varianti genetiche associate con la massa ventricolare sinistra in pazienti con ipertensione essenziale mai trattata. Doctoral Thesis.
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Aim: To investigate the association of common genetic variants with left ventricular mass using a genome wide approach in a large cohort of never treated mild-to-moderate essential hypertensive subjects and propose a pilot, weighted “genetic risk score” that aggregates the measures of risk of raised LVM.
Materials and Methods: The association of genetic variants with LVM (trans-thoracic echocardiography) was investigated by a genome-wide association analysis in 966 never treated mild-to-moderate EH patients.
Results: ROCK1, IGF1, CACNA1D, FGFR1, TRAF5, SOX5, and KSR2 genes were identified in our study as putative modulators of LVM. The combination of these susceptibility loci into a “weighted genetic risk score” shows consistent discriminatory power to predict the risk of raised LVM in our cohort.
Conclusions: Our GWAS allowed us to pinpoint genes whose role cardiac hypertrophy has been demonstrated in previously publications by different authors. Moreover, we highlighted the usefulness of an aggregate measure of risk of LVH to discriminate high-risk subjects. Future work is needed to better characterize the regions identified in our study, to assess the functional role of putative genetic variants and to confirm our proposed “genetic risk score”.
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