Association of TM6SF2 (E167K) with NAFLD in adult Greek people with Type 2 Diabetes Mellitus (T2DM)

Abstract

Abstract Purpose: TM6SF2 (E167K) variant is considered as one of the most important determinants of inter-individual and ethnicity-related differences in hepatic fat content and NAFLD progression. We aimed to investigate TM6SF2 genotype frequency and its association with Hepatic Steatosis (HS) and Fibrosis (HF) in adult Greek individuals with established T2DM. Methods: 120 consecutive subjects with T2DM attending the Diabetic Outpatient Clinic at an Academic Hospital in Athens, Greece included in our study. All had demographic, clinical and biochemical data recorded. HS was estimated with Proton Density Fat Fraction Magnetic Resonance Imaging (MRI- PDFF) and defined as percentage of total liver fat divided by liver volume. HS of >5% was considered abnormal. HF was estimated with FibroTest (FIBROMAXTM) and Liver Siffness Measurements (LSM) by using Two Dimensional Shear Wave Elastography (2D SWE, Supersonic Image, Aix-en-Provence, France). TM6SF2 (E167K) was evaluated by standard molecular techniques. Results: 95 subjects had HS >5% and only 16 had LSM >8.0kPa.TM6SF2(E167K) GG/GA/AA genotype frequencies were 87.5%, 10.83% and 1.67%. There was no association between TM6SF2(E167K) and any liver or lipid biochemical parameter estimated or HS. No correlation was found between TM6SF2 (E167K) and FibroTest (p=0.346) or LSM (SWE) (p=0.232). Conclusion: In conclusion, the role of TM6SF2 (E167K) remains controversial in our specific study population as no association with HS or HF was identified although its frequency in our population was significant (12.5% vs 7% in Europe).