Abstract
Genetic background may be involved in the promotion and progression of non-alcoholic fatty liver disease (NAFLD). Previous studies have suggested that the single nucleotide polymorphisms (SNPs) may be associated with the specific clinical features in the patients with hepatic steatosis; however, data on the patients with diabetes from Southern Italy are lacking. We enrolled 454 patients and 260 of them had type 2 diabetes. We studied the PNPLA3 rs738409, LPIN1 rs13412852, KLF6 rs3750861, SOD2 rs4880, TM6SF2 rs58542926, and ZNF624 rs12603226 SNPs and their distribution in the study population. Lipid profile, liver stiffness, and kidney function were also studied to understand the potential role of the SNPs in the development of clinical phenotypes. No differences were observed in the distribution of polymorphisms between the diabetic and non-diabetic subjects. Carriers of risk allele G for PNPLA3 rs738409 SNP showed a lower mean value of serum triglycerides and a higher liver stiffness. Risk allele for KLF6 rs3750861 and SOD2 rs4880 polymorphism had a lower estimated glomerular filtration rate (eGFR) value, whereas no differences in the glucose and glycated hemoglobin level were observed in the subgroups by the different genotypes. Genetic polymorphisms are useful to identify the patients at higher risk of development of liver fibrosis and lower eGFR values in the patients with diabetes and NAFLD. Their use in clinical practice may help the clinicians to identify the patients who require a more strict follow-up program.
Highlights
Non-alcoholic fatty liver disease (NAFLD) is a major cause of chronic liver disease and the second leading cause of liver transplantation [1]
In subgroup analysis by the antidiabetic treatment, the patients treated with noninsulin therapy had significantly lower hemoglobin A1c (HbA1c) levels compared with the patients treated with basal regimen, whereas the patients treated with basalbolus therapy had a mean HbA1c of 8.37 ± 1.08%
Non-alcoholic fatty liver disease affects almost two billion people globally and its burden is expected to grow in the coming decades
Summary
Non-alcoholic fatty liver disease (NAFLD) is a major cause of chronic liver disease and the second leading cause of liver transplantation [1]. From a clinical point of view, NAFLD encompasses a spectrum of diseases ranging from simple steatosis without liver inflammation to steatohepatitis and, liver cirrhosis [3]. There is a significant heterogeneity in the clinical phenotype and natural history of NAFLD because it is a multifactorial disease resulting from the interaction between the genetic background and environmental factors [4]. Type 2 diabetes, reduced physical activity, and genetic variants are the most important risk factors; it is unclear which of them plays a decisive role in the disease promotion and progression. In clinical practice, it is unknown which patients have the greatest risk of suffering from liver damage or developing liver cirrhosis [4]
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