Corrigendum : Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis


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Corrigendum : Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
Benyamin B., Esko T., Ried J.S., Radhakrishnan A., Vermeulen S.H., Traglia M., Gögele M., Anderson D., Broer L., Podmore C., Luan J., Kutalik Z., Sanna S., van der Meer P., Tanaka T., Wang F., Westra H.J., Franke L., Mihailov E., Milani L., Hälldin J., Winkelmann J., Meitinger T., Thiery J., Peters A., Waldenberger M., Rendon A., Jolley J., Sambrook J., Kiemeney L.A., Sweep F.C., Sala C.F., Schwienbacher C., Pichler I., Hui J., Demirkan A., Isaacs A., Amin N., Steri M., Waeber G., Verweij N., Powell J.E., Nyholt D.R., Heath A.C., Madden P.A., Visscher P.M., Wright M.J., Montgomery G.W., Martin N.G., Hernandez D., Bandinelli S., van der Harst P., Uda M., Vollenweider P., Scott R.A., Langenberg C., Wareham N.J., van Duijn C., Beilby J., Pramstaller P.P., Hicks A.A., Ouwehand W.H., Oexle K., Gieger C., Metspalu A., Camaschella C., Toniolo D., Swinkels D.W., Whitfield J.B.
2041-1723 (Electronic)
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The original version of this Article contained an error in the spelling of the author Jonas Hälldin, which was incorrectly given as Jonas Häldin. This has now been corrected in both the PDF and HTML versions of the Article. - Publié dans Nature Communications
Absorption, transport and storage of iron are tightly regulated, as expected for an element, which is both essential and potentially toxic. Iron deficiency is the leading cause of anaemia, and it also compromises immune function and cognitive development. Iron overload damages the liver and other organs in hereditary hemochromatosis, and in
thalassaemia patients with both transfusion and non-transfusionrelated iron accumulation. Excess iron has harmful effects in chronic liver diseases caused by excessive alcohol, obesity or viruses. There is evidence for involvement of iron in neurodegenerative diseases and in Type 2 diabetes. Variation in transferrin saturation, a biomarker of iron status,
has been associated with mortality in patients with diabetes and in the general population13. All these associations between iron and either clinical disease or pathological processes make it important to understand the causes of variation in iron status.
Importantly, information on genetic causes of variation can be used in Mendelian randomization studies to test whether variation in iron status is a cause or consequence of disease. We have used biomarkers of iron status (serum iron, transferrin, transferrin saturation and ferritin), which are commonly used clinically and readily measurable in thousands of individuals, and carried out a meta-analysis of human genomewide association study (GWAS) data from 11 discovery and eight replication cohorts. Our aims were to identify additional loci affecting markers of iron status in the general population and to relate the significant loci to information on gene expression to identify relevant genes.
We also made an initial assessment of whether any such loci affect iron status in HFE C282Y homozygotes, who are at genetic risk of HFE-related iron overload (hereditary hemochromatosis type 1, OMIM #235200)
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04/05/2015 10:15
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20/08/2019 15:09
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