Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian 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.
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. https://doi.org/10.1016/j.medici.2016.09.004
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(5):269-275. https://doi.org/10.1016/j.medici.2016.09.004Chicago/Turabian Style
Juzėnas, Simonas, Juozas Kupčinskas, Irena Valantienė, Jolanta Šumskienė, Vitalija Petrenkienė, Jūrate Kondrackienė, Laimutis Kučinskas, Gediminas Kiudelis, Jurgita Skiecevičienė, and Limas Kupčinskas. 2016. "Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population" Medicina 52, no. 5: 269-275. https://doi.org/10.1016/j.medici.2016.09.004