Frequency of the HFE Gene Mutations in Five Italian Populations

Candore, Giuseppina; Mantovani, Vilma; Balistreri, Carmela Rita; Lio, Domenico; Colonna‐Romano, Giuseppina; Cerreta, Vincenzo; Carru, Ciriaco; Deiana, Luca; Pes, Giovanni Mario; Menardi, Giuseppe; Perotti, L.; Miotti, Valeria; Bevilacqua, Elena; Amoroso, Antonio; Caruso, Calogero

doi:10.1006/bcmd.2002.0567

Cited by 37 publications

(31 citation statements)

References 37 publications

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Section: Introductionmentioning

confidence: 99%

“…Epidemiological studies in Mediterranean populations have shown that C282Y occurs only sporadically, while H63D is found among 13.5% of the general population [5] . In this area, HFE polymorphism seems to have a modest diagnostic relevance, since many cases of HH do not display the classic pattern of mutations [5] . It www.wjgnet.com has been suggested that HFE mutations may be involved in cases of liver disease complicated by iron overload and in patients with type 2 diabetes [6] .…”

Section: Introductionmentioning

confidence: 99%

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Hyperferritinemia is a risk factor for steatosis in chronic liver disease

Licata

Nebbia²,

Cabibbo³

et al. 2009

WJG

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AIM:To investigate the relationship between ferritin and steatosis in patients with chronically abnormal liver function tests (LFTs) and high ferritin level. METHODS:One hundred and twenty-four consecutive patients with hyperferritinemia (male > 300 ng/mL, female > 200 ng/mL) were evaluated; clinical, biochemical and serological data, iron status parameters, HFE gene mutations and homeostasis model assessment score were obtained. Steatosis was graded by ultrasound as absent or present. Histology was available in 53 patients only.RESULTS: Mean level of ferritin was 881 ± 77 ng/mL in men and 549 ± 82 ng/mL in women. The diagnosis was chronic hepatitis C in 53 (42.7%), non-alcoholic fatty liver disease/non-alcoholic steatohepatitis in 57 (45.9%), and cryptogenic liver damage in 14 (11.3%). None was diagnosed as hereditary hemochromatosis (HH). Hepatic siderosis on liver biopsy was present in 17 of 54 (32%) patients; grade 1 in eight and grade 2 in nine. Overall, 92 patients (74.2%) had steatosis. By logistic regression, ferritin and g-glutamyltransferase were independent predictors of steatosis. Ferritin levels were significantly related to low platelet count, steatosis and hepatitis C virus infection. CONCLUSION:In a non-obese cohort of non-alcoholic patients with chronically abnormal LFTs without HH, high serum ferritin level is a risk factor for steatosis.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hyperferritinemia is a risk factor for steatosis in chronic liver disease

Licata

Nebbia²,

Cabibbo³

et al. 2009

WJG

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“…The C282Y and H63D mutations also differ in their timing and allele frequency distributions. H63D appears to be thousands of years older than C282Y, having arisen at least twice in different locations and is distributed worldwide (Cullen et al, 1998; Rochette et al, 1999; Merryweather‐Clarke et al, 2000; Candore et al, 2002). Since H63D has negligible impact on iron absorption compared to C282Y, here we focus our investigation on the C282Y allele.…”

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confidence: 99%

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic

Heath

Axton

McCullough

et al. 2016

American J Phys Anthropol

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ObjectivesThe C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution. Here we hypothesize that this new Neolithic diet, which originated in the sunny warm and dry climates of the Middle East, was carried by migrating farmers into the chilly and damp environments of Europe where iron is a critical micronutrient for effective thermoregulation. We argue that the C282Y allele was an adaptation to this novel environment.Materials and MethodsTo address our hypothesis, we compiled C282Y allele frequencies, known Neolithic sites in Europe and climatic data on temperature and rainfall for statistical analysis.ResultsOur findings indicate that the geographic cline for C282Y frequency in Europe increases as average temperatures decrease below 16°C, a critical threshold for thermoregulation, with rainy days intensifying the trend.DiscussionThe results indicate that the deleterious C282Y allele, responsible for most cases of hemochromatosis, may have evolved as a selective advantage to culture and climate during the European Neolithic. Am J Phys Anthropol 160:86–101, 2016. © 2016 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

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“…In contrast, no difference was observed in allele frequency of H63D in the five Italian regions (Friuli 12%-Sardinia 17.5%). 7 Several studies assessed that no association exist between the HFE genetic variants and chronic liver disease. Overall, only a few studies have suggested an increased prevalence of HFE mutations in CHC patients, 8,9 with respect to the general population; this observation was not confirmed in other studies.…”

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confidence: 99%