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

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.

journal_name

Nat Commun

journal_title

Nature communications

authors

Benyamin B,Esko T,Ried JS,Radhakrishnan A,Vermeulen SH,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 HJ,Franke L,Mihailov E,Milani L,Hälldin J,Win

doi

10.1038/ncomms5926

subject

Has Abstract

pub_date

2014-10-29 00:00:00

pages

4926

issn

2041-1723

pii

ncomms5926

journal_volume

5

pub_type

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