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DOI 10.1038/ncomms5926

Медицинская библиотека · Nature communications · 2014

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

Benyamin Beben, Esko Tonu, Ried Janina S, Radhakrishnan Aparna, Vermeulen Sita H, Traglia Michela, Gögele Martin, Anderson Denise, Broer Linda, Podmore Clara, Luan Jian'an, Kutalik Zoltan, Sanna Serena, van der Meer Peter, Tanaka Toshiko, Wang Fudi, Westra Harm-Jan, Franke Lude, Mihailov Evelin, Milani Lili, Hälldin Jonas, Winkelmann Juliane, Meitinger Thomas, Thiery Joachim, Peters Annette, Waldenberger Melanie, Rendon Augusto, Jolley Jennifer, Sambrook Jennifer, Kiemeney Lambertus A, Sweep Fred C, Sala Cinzia F, Schwienbacher Christine, Pichler Irene, Hui Jennie, Demirkan Ayse, Isaacs Aaron, Amin Najaf, Steri Maristella, Waeber Gérard, Verweij Niek, Powell Joseph E, Nyholt Dale R, Heath Andrew C, Madden Pamela A F, Visscher Peter M, Wright Margaret J, Montgomery Grant W, Martin Nicholas G, Hernandez Dena, Bandinelli Stefania, van der Harst Pim, Uda Manuela, Vollenweider Peter, Scott Robert A, Langenberg Claudia, Wareham Nicholas J, InterAct Consortium, van Duijn Cornelia, Beilby John, Pramstaller Peter P, Hicks Andrew A, Ouwehand Willem H, Oexle Konrad, Gieger Christian, Metspalu Andres, Camaschella Clara, Toniolo Daniela, Swinkels Dorine W, Whitfield John B

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Аннотация

Variation in body iron is associated with or causes diseases, including anaemia and iron overload. Here, we analyse genetic association data on biochemical markers of iron status from 11 European-population studies, with replication in eight additional cohorts (total up to 48,972 subjects). We find 11 genome-wide-significant (P<5 × 10(-8)) loci, some including known iron-related genes (HFE, SLC40A1, TF, TFR2, TFRC, TMPRSS6) and others novel (ABO, ARNTL, FADS2, NAT2, TEX14). SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis. There is substantial overlap between our iron loci and loci affecting erythrocyte and lipid phenotypes. These results will facilitate investigation of the roles of iron in disease.

Для цитирования: Benyamin Beben, Esko Tonu, Ried Janina S, Radhakrishnan Aparna, Vermeulen Sita H, Traglia Michela, Gögele Martin, Anderson Denise, Broer Linda, Podmore Clara, Luan Jian'an, Kutalik Zoltan, Sanna Serena, van der Meer Peter, Tanaka Toshiko, Wang Fudi, Westra Harm-Jan, Franke Lude, Mihailov Evelin, Milani Lili, Hälldin Jonas, Winkelmann Juliane, Meitinger Thomas, Thiery Joachim, Peters Annette, Waldenberger Melanie, Rendon Augusto, Jolley Jennifer, Sambrook Jennifer, Kiemeney Lambertus A, Sweep Fred C, Sala Cinzia F, Schwienbacher Christine, Pichler Irene, Hui Jennie, Demirkan Ayse, Isaacs Aaron, Amin Najaf, Steri Maristella, Waeber Gérard, Verweij Niek, Powell Joseph E, Nyholt Dale R, Heath Andrew C, Madden Pamela A F, Visscher Peter M, Wright Margaret J, Montgomery Grant W, Martin Nicholas G, Hernandez Dena, Bandinelli Stefania, van der Harst Pim, Uda Manuela, Vollenweider Peter, Scott Robert A, Langenberg Claudia, Wareham Nicholas J, InterAct Consortium, van Duijn Cornelia, Beilby John, Pramstaller Peter P, Hicks Andrew A, Ouwehand Willem H, Oexle Konrad, Gieger Christian, Metspalu Andres, Camaschella Clara, Toniolo Daniela, Swinkels Dorine W, Whitfield John B. Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.. Nature communications. 2014. DOI: 10.1038/ncomms5926.

Предметные рубрики MeSH

AdultChromosomes, Human, Pair 7FerritinsGene Expression RegulationGenetic Association StudiesGenetic LociGenetic Predisposition to DiseaseHemochromatosisHomeostasisHumansIronLipidsPhenotypePolymorphism, Single NucleotideReproducibility of ResultsRisk FactorsTransferrin
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