{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T01:20:16Z","timestamp":1793064016855,"version":"4.5.0"},"reference-count":44,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2011,3,31]],"date-time":"2011-03-31T00:00:00Z","timestamp":1301529600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0017390","type":"journal-article","created":{"date-parts":[[2011,3,31]],"date-time":"2011-03-31T20:54:43Z","timestamp":1301604883000},"page":"e17390","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":64,"title":["Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency"],"prefix":"10.1371","volume":"6","author":[{"given":"Christine E.","family":"McLaren","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad P.","family":"Garner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare C.","family":"Constantine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stela","family":"McLachlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris D.","family":"Vulpe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly M.","family":"Snively","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor R.","family":"Gordeuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debbie A.","family":"Nickerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D.","family":"Cook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Leiendecker-Foster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth B.","family":"Beckman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Eckfeldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa F.","family":"Barcellos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph A.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul C.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald T.","family":"Acton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony A.","family":"Killeen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon D.","family":"McLaren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2011,3,31]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1152\/physiol.00052.2005","article-title":"The ins and outs of iron homeostasis.","volume":"21","author":"A Donovan","year":"2006","journal-title":"Physiology (Bethesda)"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.tmrv.2008.12.001","article-title":"Blood iron homeostasis: newly discovered proteins and iron imbalance.","volume":"23","author":"MR Bleackley","year":"2009","journal-title":"Transfus Med Rev"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/MOG.0b013e32831ef1f7","article-title":"Iron absorption and metabolism.","volume":"25","author":"GJ Anderson","year":"2009","journal-title":"Curr Opin Gastroenterol"},{"key":"ref4","article-title":"Turning the tide of malnutrition: Responding to the challenge of the 21st century (WHO\/NHD\/00.7).","author":"WHO","year":"2000"},{"key":"ref5","first-page":"128","article-title":"Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains.","volume":"126","author":"RC Leboeuf","year":"1995","journal-title":"J Lab Clin Med"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"147","DOI":"10.3181\/00379727-220-44357","article-title":"A genetic developmental model of iron deficiency: biological aspects.","volume":"220","author":"AC Morse","year":"1999","journal-title":"Proc Soc Exp Biol Med"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1002\/ajh.21585","article-title":"Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.","volume":"85","author":"CE McLaren","year":"2010","journal-title":"Am J Hematol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0098-2997(00)00006-6","article-title":"The roles of iron in health and disease.","volume":"22","author":"PT Lieu","year":"2001","journal-title":"Mol Aspects Med"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1056\/NEJMoa041534","article-title":"Hemochromatosis and iron-overload screening in a racially diverse population.","volume":"352","author":"PC Adams","year":"2005","journal-title":"N Engl J Med"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1097\/00000441-200302000-00001","article-title":"Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults.","volume":"325","author":"CE McLaren","year":"2003","journal-title":"Am J Med Sci"},{"key":"ref11","first-page":"115","article-title":"Serum ferritin in healthy Danes: relation to marrow haemosiderin iron stores.","volume":"30","author":"N Milman","year":"1983","journal-title":"Dan Med Bull"},{"key":"ref12","first-page":"88","article-title":"Population norms for serum ferritin.","volume":"126","author":"EM Custer","year":"1995","journal-title":"J Lab Clin Med"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"3359","DOI":"10.1182\/blood-2002-10-3071","article-title":"The quantitative assessment of body iron.","volume":"101","author":"JD Cook","year":"2003","journal-title":"Blood"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cca.2007.04.008","article-title":"Evaluation of an automated soluble transferrin receptor (sTfR) assay on the Roche Hitachi analyzer and its comparison to two ELISA assays.","volume":"382","author":"CM Pfeiffer","year":"2007","journal-title":"Clin Chim Acta"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/ajh.2830230209","article-title":"A serum ferritin assay for prevalence studies of iron deficiency.","volume":"23","author":"CA Flowers","year":"1986","journal-title":"Am J Hematol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1294","DOI":"10.1093\/bioinformatics\/btm108","article-title":"GenABEL: an R library for genome-wide association analysis.","volume":"23","author":"YS Aulchenko","year":"2007","journal-title":"Bioinformatics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1002\/gepi.20533","article-title":"MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes.","volume":"34","author":"Y Li","year":"2010","journal-title":"Genet Epidemiol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1093\/ajcp\/71.4.401","article-title":"Normal serum iron and elevated total iron-binding capacity in iron-deficiency states.","volume":"71","author":"SK Ballas","year":"1979","journal-title":"Am J Clin Pathol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1086\/302862","article-title":"Effects of <italic>HFE<\/italic> C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.","volume":"66","author":"JB Whitfield","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1006\/bcmd.1999.0267","article-title":"The effect of transferrin polymorphisms on iron metabolism.","volume":"25","author":"PL Lee","year":"1999","journal-title":"Blood Cells Mol Dis"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1006\/bcmd.2001.0418","article-title":"Polymorphisms in the transferrin 5\u2032 flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis.","volume":"27","author":"PL Lee","year":"2001","journal-title":"Blood Cells Mol Dis"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1046\/j.1365-2141.2001.03096.x","article-title":"Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.","volume":"115","author":"PL Lee","year":"2001","journal-title":"Br J Haematol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1046\/j.1365-2141.2003.04347.x","article-title":"The G277S mutation in transferrin does not disturb function.","volume":"121","author":"P Aisen","year":"2003","journal-title":"Br J Haematol"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s00394-006-0631-x","article-title":"The G277S transferrin mutation does not affect iron absorption in iron deficient women.","volume":"46","author":"B Sarria","year":"2007","journal-title":"Eur J Nutr"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1086\/520001","article-title":"Common variants in the <italic>BMP2<\/italic>, <italic>BMP4<\/italic>, and <italic>HJV<\/italic> genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.","volume":"81","author":"J Milet","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/ng.335","article-title":"BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.","volume":"41","author":"B Andriopoulos Jr","year":"2009","journal-title":"Nat Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/ng0409-386","article-title":"BMP6 orchestrates iron metabolism.","volume":"41","author":"C Camaschella","year":"2009","journal-title":"Nat Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000243792","article-title":"Role of matriptase-2 (TMPRSS6) in iron metabolism.","volume":"122","author":"P Lee","year":"2009","journal-title":"Acta Haematol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/ng.320","article-title":"Lack of the bone morphogenetic protein BMP6 induces massive iron overload.","volume":"41","author":"D Meynard","year":"2009","journal-title":"Nat Genet"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.130","article-title":"Mutations in <italic>TMPRSS6<\/italic> cause iron-refractory iron deficiency anemia (IRIDA).","volume":"40","author":"KE Finberg","year":"2008","journal-title":"Nat Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1182\/blood-2008-05-154740","article-title":"Two nonsense mutations in the <italic>TMPRSS6<\/italic> gene in a patient with microcytic anemia and iron deficiency.","volume":"112","author":"F Guillem","year":"2008","journal-title":"Blood"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.3324\/haematol.13342","article-title":"A mutation in the <italic>TMPRSS6<\/italic> gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.","volume":"93","author":"MA Melis","year":"2008","journal-title":"Haematologica"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"4690","DOI":"10.3748\/wjg.v13.i35.4690","article-title":"Non-HFE haemochromatosis.","volume":"13","author":"DF Wallace","year":"2007","journal-title":"World J Gastroenterol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1111\/j.1365-2141.2009.07843.x","article-title":"A novel association between a SNP in <italic>CYBRD1<\/italic> and serum ferritin levels in a cohort study of <italic>HFE<\/italic> hereditary haemochromatosis.","volume":"147","author":"CC Constantine","year":"2009","journal-title":"Br J Haematol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ajhg.2008.11.011","article-title":"Variants in <italic>TF<\/italic> and <italic>HFE<\/italic> explain approximately 40% of genetic variation in serum-transferrin levels.","volume":"84","author":"B Benyamin","year":"2009","journal-title":"Am J Hum Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/ng.456","article-title":"Common variants in <italic>TMPRSS6<\/italic> are associated with iron status and erythrocyte volume.","volume":"41","author":"B Benyamin","year":"2009","journal-title":"Nat Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1038\/ng.462","article-title":"Genome-wide association study identifies variants in <italic>TMPRSS6<\/italic> associated with hemoglobin levels.","volume":"41","author":"JC Chambers","year":"2009","journal-title":"Nat Genet"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1182\/blood-2009-07-232496","article-title":"A genome-wide association analysis of serum iron concentrations.","volume":"115","author":"T Tanaka","year":"2010","journal-title":"Blood"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1056\/NEJM199612123352403","article-title":"Clinical and biochemical abnormalities in people heterozygous for hemochromatosis.","volume":"335","author":"ZJ Bulaj","year":"1996","journal-title":"N Engl J Med"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.1093\/clinchem\/44.12.2429","article-title":"Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency?","volume":"44","author":"C Datz","year":"1998","journal-title":"Clin Chem"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1046\/j.1365-2141.2003.04215.x","article-title":"Haematological effects of the C282Y <italic>HFE<\/italic> mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry.","volume":"120","author":"E Beutler","year":"2003","journal-title":"Br J Haematol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1055\/s-2003-44299","article-title":"HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes.","volume":"41","author":"D Raddatz","year":"2003","journal-title":"Z Gastroenterol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/BF00222881","article-title":"Selective genotyping for determination of linkage between a marker locus and a quantitative trait locus.","volume":"85","author":"A Darvasi","year":"1992","journal-title":"Theor Appl Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"4563","DOI":"10.1182\/blood-2003-04-1278","article-title":"Mixture distribution analysis of phenotypic markers reflecting <italic>HFE<\/italic> gene mutations.","volume":"102","author":"CE McLaren","year":"2003","journal-title":"Blood"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0017390","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T19:52:20Z","timestamp":1592423540000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0017390"}},"subtitle":[],"editor":[{"given":"Marc","family":"Tjwa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2011,3,31]]},"references-count":44,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2011,3,31]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0017390","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,3,31]]}}}