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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population

1
Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
2
Department of Gastroenterology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania
*
Author to whom correspondence should be addressed.
These authors equally contributed to the study.
Medicina 2016, 52(5), 269-275; https://doi.org/10.1016/j.medici.2016.09.004
Received: 20 March 2015 / Revised: 27 July 2016 / Accepted: 13 September 2016 / Published: 3 October 2016
Background and objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochro- matosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozy- gous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithua- nian population.
Materials and methods: The patient cohort consisted of 209 individuals. Diagnosis of cirrhosis was confirmed by clinical, laboratory parameters, liver biopsy, and radiological imaging. Control samples were obtained from 1005 randomly selected unrelated healthy individuals. HFE gene mutations were determined using the PCR-RFLP method.
Results: The most common causes of cirrhosis were hepatitis C (33.9%), hepatitis B (13.6%), and alcohol (25.8%). C282Y allele was associated with the presence of cirrhosis (OR = 2.07; P = 0.005); this was also observed under recessive model for C282Y (OR = 2.06, P = 0.008). The prevalence of C282Y allele was higher in cirrhotic men than in controls (7.0% vs. 2.8%, P = 0.002). The carriage of H63D risk allele (OR = 1.54; P = 0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR = 2.48, P = 0.008, and OR = 4.13, P = 0.005, respectively).
Conclusions: Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.
Keywords: HFE; C282Y; H63D; Liver cirrhosis HFE; C282Y; H63D; Liver cirrhosis
MDPI and ACS Style

Juzėnas, S.; Kupčinskas, J.; Valantienė, I.; Šumskienė, J.; Petrenkienė, V.; Kondrackienė, J.; Kučinskas, L.; Kiudelis, G.; Skiecevičienė, J.; Kupčinskas, L. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population. Medicina 2016, 52, 269-275.

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