Prevalence and severity of nonalcoholic fatty liver disease by transient elastography: Genetic and metabolic risk factors in a general population

Salvatore Petta; Vito Di Marco; Rosaria Maria Pipitone; Stefania Grimaudo; Carola Buscemi; Antonio Craxì; Silvio Buscemi

doi:10.1111/liv.13743

Prevalence and severity of nonalcoholic fatty liver disease by transient elastography: Genetic and metabolic risk factors in a general population

Liver Int. 2018 Nov;38(11):2060-2068. doi: 10.1111/liv.13743. Epub 2018 May 7.

Authors

Salvatore Petta¹, Vito Di Marco¹, Rosaria Maria Pipitone¹, Stefania Grimaudo¹, Carola Buscemi¹, Antonio Craxì¹, Silvio Buscemi^{2

3}

Affiliations

¹ Sezione di Gastroenterologia e Epatologia, Di.Bi.M.I.S., University of Palermo, Palermo, Italy.
² Unit of Malattie Endocrine, del Ricambio e della Nutrizione AOU Policlinico "P. Giaccone", Palermo, Italy.
³ Di.Bi.M.I.S., University of Palermo, Palermo, Italy.

PMID: 29577560
DOI: 10.1111/liv.13743

Abstract

Background & aims: The worldwide spread of obesity is leading to a dramatic increase in the prevalence of nonalcoholic fatty liver disease (NAFLD) and its complications. We aimed to evaluate both prevalence and factors associated with NAFLD in a general population in a Mediterranean area.

Methods: We considered 890 consecutive individuals included in the community-based ABCD (Alimentazione, Benessere Cardiovascolare e Diabete) study (ISRCTN15840340). Controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) were measured with FibroScan. Participants were genotyped for PNPLA3 rs738409 and TM6SF2 rs58542926 variants.

Results: The prevalence of NAFLD in the cohort was 48%. NAFLD participants exhibited elevated LSM values, suggesting advanced fibrosis (6.5% of cases). Both NAFLD and advanced fibrosis were independently associated with traditional risk factors (NAFLD: age >50 years, obesity, hypertension, elevated ALT and low HDL-cholesterol serum concentrations. Advanced fibrosis: IFG/diabetes, elevated ALT serum concentrations). A high prevalence (>60%) of NAFLD was found in obese people, while it varied widely in non-obese people according to the presence of metabolic risk factors. PNPLA3 G variant (OR = 1.33, 95% C.I. = 1.01-1.8; P < .05) was independently associated with NAFLD. Prevalence of advanced fibrosis (high LSM values) ranged from 3.4% (no risk factors) to 60% (presence of all risk factors). TM6SF2 T variant (OR = 3.06, 95% C.I. = 1.08-8.65, P < .05) was independently associated with advanced fibrosis (high LSM values).

Conclusions: In a cohort of a general population, the prevalence of NAFLD was very high, and among NAFLD patients a significant proportion had advanced fibrosis (high LSM values). Apart from traditional risk factors, genetic factors may have a significant role that needs to be further investigated.

Keywords: controlled attenuation parameter; fibrosis; general population; liver stiffness measurement; patatin like phospholipase domain containing 3; steatosis; stiffness; transient elastography; transmembrane 6 superfamily 2.

MeSH terms

Adult
Aged
Diabetes Mellitus / etiology
Elasticity Imaging Techniques*
Female
Humans
Italy / epidemiology
Lipase / genetics
Liver / pathology*
Liver Cirrhosis / epidemiology*
Liver Cirrhosis / etiology
Logistic Models
Male
Membrane Proteins / genetics
Middle Aged
Non-alcoholic Fatty Liver Disease / diagnostic imaging
Non-alcoholic Fatty Liver Disease / epidemiology*
Non-alcoholic Fatty Liver Disease / genetics*
Obesity / complications
Polymorphism, Single Nucleotide
Population
Prevalence
Risk Factors
Severity of Illness Index

Substances

Membrane Proteins
TM6SF2 protein, human
Lipase
adiponutrin, human