Abstract: Objective To explore the relationship between the expression of transmembrane 6 superfamily member 2 (TM6SF2) gene and cardiovascular disease (CVD) in patients with non-alcoholic steatohepatitis (NASH). Methods A total of 93 NASH patients who were admitted to the hospital from September 2018 to September 2020 were enrolled. According to presence or absence of CVD, they were divided into NASH group and CVD group. The polymorphism of TM6SF2 gene at rs58542936 locus was detected by TaqMan probe method. The influencing factors of CVD were analyzed by Logistic multivariate regression analysis. The predictive value of TM6SF2 gene polymorphism at rs58542936 locus for CVD was analyzed by ROC curves. According to the polymorphism of TM6SF2 gene at rs58542936 locus in CVD patients, they were divided into homozygous group and heterozygous group. The levels of blood lipid and cardiac function indexes were compared betweenthe two groups. Results The proportions of cases with BMI not lower than 28kg/m², TC not lower than 5.2 mmol/L, smoking history, family history of CVD and heterozygous TM6SF2 gene at rs58542936 locus in CVD group were 51.4%, 82.9%, 57.1%, 51.4% and 40.0%, higher than those in NASH group (29.3%, 63.8%, 31.0%, 27.6%, 20.7%, P<0.05). The multivariate Logistics regression analysis showed that BMI not lower than 28 kg/m² [OR(95%CI): 1.7 (1.0-2.8)], TC not lower than 5.2 mmol/L [OR(95%CI): 1.8 (1.1-3.1)], family history of CVD [OR (95%CI): 1.8 (1.1-2.9)] and CT type TM6SF2 gene at rs58542936 locus [OR (95%CI): 1.8 (1.1-3.0)] were risk factors of CVD (P<0.05). AUC of TM6SF2 gene polymorphism at rs58542936 locus for predicting CVD was 0.7. TC, TG, LVEF and IMT in heterozygous TM6SF2 gene at rs58542936 locus were (6.3±1.0) mmol/L, (2.0±0.4) mmol/L, (56.1±2.9) % and (1.3±0.2) mm, higher or greater than those in homozygous type [(5.0±0.9) mmol/L, (1.6±0.3) mmol/L,(57.9±2.9) %, (0.9±0.2) mm] (P<0.05). Conclusion The polymorphism of TM6SF2 gene at rs58542936 locus is a risk factor of CVD, which is of predictive value for the occurrence of CVD. The cardiac function is worse in patients with heterozygous TM6SF2 gene at rs58542936 locus.

Key words: Non-alcoholic steatohepatitis, Transmembrane 6 superfamily member 2, Cardiovascular disease