alexa An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Genetic Syndromes & Gene Therapy

Author(s): Floreani A, Rosa Rizzotto E, Basso D, Navaglia F, Zaninotto M,

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Abstract BACKGROUND: The C282Y mutation in the HFE gene is responsible for most cases of hereditary haemochromatosis. AIM: To investigate the allele frequency of HFE mutations and the associations between mutations and cases of iron overload or liver diseases in an open population of Central Italy. METHODS: A total of 502 individuals over 8 years of age, comprising 203 males and 299 females, who were residents in Arsita (a small town in Central Italy), were assayed for: C282Y, H63D and S65C mutations of the HFE gene by TaqMan probes; body mass index, serum ferritin, transferrin saturation, transaminases, GGT, glucose, insulin, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, HBV and HCV serum markers. Information was obtained on alcohol intake. Liver ultrasound was performed in 334 (67\%) subjects. RESULTS: The allele frequencies for C282Y, H63D and S65C were 2\%, 15\%, and 0.01\%, respectively. C282Y/wt was found in 19 subjects (4\%), H63D/wt in 127 (25\%), H63D/H63D in 11 (2\%) and S65C/wt in one (2.0 per thousand). No homozygosity for C282Y or compound mutation (C282Y/H63D) was found in the study population, but 27 subjects (5\%) had TfSat >45\% (including 10 subjects with high serum ferritin). Overall, 49 subjects (9.8\%) were HCV-RNA-positive. Logistic regression analysis indicated that male gender (P = 0.000) and hepatic steatosis (P = 0.017) were independent variables correlating to a high serum ferritin. CONCLUSION: C282Y HFE mutation is less frequent in Central Italy than in Northern Italy. This article was published in Aliment Pharmacol Ther and referenced in Journal of Genetic Syndromes & Gene Therapy

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