Brief Article
Copyright ©2010 Baishideng. All rights reserved.
World J Gastroenterol. May 28, 2010; 16(20): 2531-2536
Published online May 28, 2010. doi: 10.3748/wjg.v16.i20.2531
Nonalcoholic fatty liver disease and HFE gene mutations: A Polish study
Joanna Raszeja-Wyszomirska, Grzegorz Kurzawski, Malgorzata Lawniczak, Joanna Miezynska-Kurtycz, Jan Lubinski
Joanna Raszeja-Wyszomirska, Joanna Miezynska-Kurtycz, Liver Unit, Pomeranian Medical University, 70-111 Szczecin, Poland
Grzegorz Kurzawski, Jan Lubinski, Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, 70-111 Szczecin, Poland
Malgorzata Lawniczak, Department of Gastroenterology, Pomeranian Medical University, 71-252 Szczecin, Poland
Author contributions: Raszeja-Wyszomirska J wrote the manuscript and was responsible for the database; Kurzawski G performed genetic tests (PCR-RFLP); Lawniczak M and Miezynska-Kurtycz J were responsible for collecting demographic, clinical and laboratory data; Lubinski J was responsible for revising the manuscript.
Supported by A Grant from a State Committee for Scientific Research, 2006-2009, No. N 402 099 21/3037
Correspondence to: Dr. Joanna Raszeja-Wyszomirska, Liver Unit, Pomeranian Medical University, ul. Powstancow Wielkopolskich 72, 70-111 Szczecin, Poland. jorasz@sci.pam.szczecin.pl
Telephone: +48-91-8139435 Fax: +48-91-8139435
Received: January 8, 2010
Revised: February 21, 2010
Accepted: February 28, 2010
Published online: May 28, 2010
Abstract

AIM: To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data.

METHODS: Sixty-two consecutive patients with biopsy-proven NAFLD were included in the study. Demographic, clinical, and laboratory data were summarized in a database. C282Y and H63D mutations of the HFE gene were analyzed using polymerase chain reaction-restriction fragment lenght polymorphism.

RESULTS: The analyzed cohort consisted of 62 homogeneic Caucasian participants, 66.1% men and 33.9% women, with a median age of 48 years. The median body mass index was 29.05 kg/m2. Hypercholesterolemia was observed in 74.2% of patients and hypertriglyceridemia in 32.2%; 16.1% had type 2 diabetes mellitus (DMt2). On liver biopsy, 22.6% of NAFLD patients were found to have severe fibrosis. There were no differences between frequencies of HFE gene mutations in subgroups of NAFLD patients with less and more severe liver fibrosis. Obesity, older age, female gender and DMt2 were associated with more advanced fibrosis in this Polish cohort, as well as higher glucose level, serum iron and transaminase aspartate aminotransferase/alanine aminotransferase ratio.

CONCLUSION: HFE mutations conferred no additional hepatic fibrosis risk in NAFLD, but higher serum iron was a risk factor for severe liver damage in NAFLD, regardless of HFE mutations.

Keywords: Nonalcoholic fatty liver disease; HFE gene mutations; Liver fibrosis