DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Iron status biomarkers (ferritin levels). The EFO term iron biomarker measurement, ferritin measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: iron biomarker measurement, ferritin measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

B Benyamin, T Esko, JS Ried, A Radhakrishnan, SH Vermeulen, M Traglia, M Gögele, D Anderson, L Broer, C Podmore, J Luan, Z Kutalik, S Sanna, P van der Meer, T Tanaka, F Wang, HJ Westra, L Franke, E Mihailov, L Milani, J Hälldin, J Häldin, J Winkelmann, T Meitinger, J Thiery, A Peters, M Waldenberger, A Rendon, J Jolley, J Sambrook, LA Kiemeney, FC Sweep, CF Sala, C Schwienbacher, I Pichler, J Hui, A Demirkan, A Isaacs, N Amin, M Steri, G Waeber, N Verweij, JE Powell, DR Nyholt, AC Heath, PA Madden, PM Visscher, MJ Wright, GW Montgomery, NG Martin, D Hernandez, S Bandinelli, P van der Harst, M Uda, P Vollenweider, RA Scott, C Langenberg, NJ Wareham, C van Duijn, J Beilby, PP Pramstaller, AA Hicks, WH Ouwehand, K Oexle, C Gieger, A Metspalu, C Camaschella, D Toniolo, DW Swinkels, JB Whitfield

TITLE:

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

JOURNAL:

Nature communications Oct 2014, Vol 5, pp. 4926

ABSTRACT:

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. PUBMED: 25352340
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