TM6SF2 E167E variant is associated with a higher serum cholesterol values and carotid intima-media thickness in patients with HIV infection

Giovanni Di Caprio

BACKGROUND & AIMS: Due to HIV related inflammation patients with HIV-infection show higher risk of cardiovascular disease (CVD) than individuals without HIV. Dyslipidemia is one of the most frequent comorbidities in HIV and is a major CVD risk factor.A particular polymorphism, E167E, in transmembrane six superfamily member 2 (TM6SF2) is associated with dyslipidemia,CVD and development of carotid plaques, but, at the same time, may protect against liver steatosis.Our aim is to investigate association between the TM6SF2 variants and total cholesterol and carotid intima-media thickness (cIMT), that predicts CVD. PATIENTS AND METHODS: To do this we enrolled 78 consecutive patients with HIV infection that were genotyped for TM6SF2.At the same time common and internal cIMT were measured by B-mode ultrasound. RESULTS: Sixty-eight patients showed TM6SF2 E167E allele (E/E) while ten patients had TM6SF2 E167K (E/K) variant. in E/E group cIMT appeared higher than in E/K group, with values statistically significant in common carotid artery (CCAdx; p=0.02), internal carotid artery (ICA dx; p=0.01) and ICA sx (p=0.01). CONCLUSIONS: There are no data about the association of TM6SF2 polymorphism with CVD in HIV patients. This preliminary study shows the association between the TM6SF2 E167E variant and cIMT, that is related to risk of CVD. This polymorphism may be important to better identify HIV patients with higher risk of atherosclerosis and CVD,allowing to optimize antiretroviral regimen.

Simone Agnello
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