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Varianti genetiche associate con la massa ventricolare sinistra in pazienti con ipertensione essenziale mai trattata

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”.

Item Type:Doctoral Thesis
ID Code:11490
Contributors:Glorioso, Nicola
Publisher:Universita' degli studi di Sassari
Uncontrolled Keywords:Left ventricular mass
Subjects:Area 06 - Scienze mediche > MED/11 Malattie dell'apparato cardiovascolare
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Cicli, scuole e corsi:Ciclo 28 > Scienze biomediche > Fisiopatologia medica
Deposited On:07 Apr 2017 10:25

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