2020
DOI: 10.3390/ijms21103505
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From Environment to Genome and Back: A Lesson from HFE Mutations

Abstract: The environment and the human genome are closely entangled and many genetic variations that occur in human populations are the result of adaptive selection to ancestral environmental (mainly dietary) conditions. However, the selected mutations may become maladaptive when environmental conditions change, thus becoming candidates for diseases. Hereditary hemochromatosis (HH) is a potentially lethal disease leading to iron accumulation mostly due to mutations in the HFE gene. Indeed, homozygosity for the C282Y HF… Show more

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Cited by 8 publications
(6 citation statements)
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“…The disparate effects between AFR and EUR individuals noted in this study is not uncommon. The evolution of the HP alleles have progressed differently in these populations, which have been exposed to very different selection pressures and disease risks, as is described by Boettger et al and others (Gichohi-Wainaina et al, 2016;Rametta et al, 2020). With regard to the HP alleles, divergent HP1-1 associations with cognitive function have been reported to differ between Ashkenazi Jews and non-Ashkenazi Jews with type 2 diabetes (Gichohi-Wainaina et al, 2016).…”
Section: Discussionmentioning
confidence: 89%
“…The disparate effects between AFR and EUR individuals noted in this study is not uncommon. The evolution of the HP alleles have progressed differently in these populations, which have been exposed to very different selection pressures and disease risks, as is described by Boettger et al and others (Gichohi-Wainaina et al, 2016;Rametta et al, 2020). With regard to the HP alleles, divergent HP1-1 associations with cognitive function have been reported to differ between Ashkenazi Jews and non-Ashkenazi Jews with type 2 diabetes (Gichohi-Wainaina et al, 2016).…”
Section: Discussionmentioning
confidence: 89%
“…Concerning the development of fibrosis, the alternative splicing of the Krueppellike factor 6 (KLF6) gene, that is expressed by the HSCs during their transdifferentiation, associates with mild NAFLD and reduced fibrosis [212]. Conversely, variants in HFE and TMPRSS6 genes likely by predisposing to hepatic iron depot formation are correlated with more severe fibrosis in NAFLD patients [213].…”
Section: Advanced Liver Injuries and Genetic Variantsmentioning
confidence: 99%
“…Later manifestations of iron overload include cirrhosis and cirrhosis-related HCC in patients with hereditary hemochromatosis or chronic hepatic inflammation [ 156 ]. Phlebotomy and chelating agents may dampen the risk of HCC in patients with siderosis.…”
Section: Nutrition and Hccmentioning
confidence: 99%