메뉴 건너뛰기




Volumn 6, Issue 3, 2011, Pages

Genome-wide association study identifies genetic loci associated with iron deficiency

(18)  McLaren, Christine E a   Garner, Chad P a   Constantine, Clare C b   McLachlan, Stela c   Vulpe, Chris D c   Snively, Beverly M d   Gordeuk, Victor R e   Nickerson, Debbie A f   Cook, James D g   Leiendecker Foster, Catherine h   Beckman, Kenneth B i   Eckfeldt, John H h   Barcellos, Lisa F j   Murray, Joseph A k   Adams, Paul C l   Acton, Ronald T m   Killeen, Anthony A h   McLaren, Gordon D n,o  


Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERRITIN; HFE PROTEIN; IRON; TRANSFERRIN;

EID: 79953321845     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0017390     Document Type: Article
Times cited : (60)

References (44)
  • 4
    • 0003878042 scopus 로고    scopus 로고
    • Turning the tide of malnutrition: Responding to the challenge of the 21st century (WHO/NHD/00.7)
    • WHO
    • WHO, (2000) Turning the tide of malnutrition: Responding to the challenge of the 21st century (WHO/NHD/00.7).
    • (2000)
  • 5
    • 0029353515 scopus 로고
    • Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains
    • Leboeuf RC, Tolson D, Heinecke JW, (1995) Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains. J Lab Clin Med 126: 128-136.
    • (1995) J Lab Clin Med , vol.126 , pp. 128-136
    • Leboeuf, R.C.1    Tolson, D.2    Heinecke, J.W.3
  • 6
    • 0033036854 scopus 로고    scopus 로고
    • A genetic developmental model of iron deficiency: biological aspects
    • Morse AC, Beard JL, Jones BC, (1999) A genetic developmental model of iron deficiency: biological aspects. Proc Soc Exp Biol Med 220: 147-152.
    • (1999) Proc Soc Exp Biol Med , vol.220 , pp. 147-152
    • Morse, A.C.1    Beard, J.L.2    Jones, B.C.3
  • 7
    • 75449090777 scopus 로고    scopus 로고
    • Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study
    • McLaren CE, Barton JC, Eckfeldt JH, McLaren GD, Acton RT, et al. (2010) Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study. Am J Hematol 85: 101-105.
    • (2010) Am J Hematol , vol.85 , pp. 101-105
    • McLaren, C.E.1    Barton, J.C.2    Eckfeldt, J.H.3    McLaren, G.D.4    Acton, R.T.5
  • 9
  • 10
    • 0037326566 scopus 로고    scopus 로고
    • Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults
    • McLaren CE, Barton JC, Adams PC, Harris EL, Acton RT, et al. (2003) Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 325: 53-62.
    • (2003) Am J Med Sci , vol.325 , pp. 53-62
    • McLaren, C.E.1    Barton, J.C.2    Adams, P.C.3    Harris, E.L.4    Acton, R.T.5
  • 11
    • 0020570006 scopus 로고
    • Serum ferritin in healthy Danes: relation to marrow haemosiderin iron stores
    • Milman N, Pedersen NS, Visfeldt J, (1983) Serum ferritin in healthy Danes: relation to marrow haemosiderin iron stores. Dan Med Bull 30: 115-120.
    • (1983) Dan Med Bull , vol.30 , pp. 115-120
    • Milman, N.1    Pedersen, N.S.2    Visfeldt, J.3
  • 13
    • 0037866396 scopus 로고    scopus 로고
    • The quantitative assessment of body iron
    • Cook JD, Flowers CH, Skikne BS, (2003) The quantitative assessment of body iron. Blood 101: 3359-3364.
    • (2003) Blood , vol.101 , pp. 3359-3364
    • Cook, J.D.1    Flowers, C.H.2    Skikne, B.S.3
  • 14
    • 34249020752 scopus 로고    scopus 로고
    • Evaluation of an automated soluble transferrin receptor (sTfR) assay on the Roche Hitachi analyzer and its comparison to two ELISA assays
    • Pfeiffer CM, Cook JD, Mei Z, Cogswell ME, Looker AC, et al. (2007) Evaluation of an automated soluble transferrin receptor (sTfR) assay on the Roche Hitachi analyzer and its comparison to two ELISA assays. Clin Chim Acta 382: 112-116.
    • (2007) Clin Chim Acta , vol.382 , pp. 112-116
    • Pfeiffer, C.M.1    Cook, J.D.2    Mei, Z.3    Cogswell, M.E.4    Looker, A.C.5
  • 17
    • 78649508578 scopus 로고    scopus 로고
    • MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR, (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34: 816-834.
    • (2010) Genet Epidemiol , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 18
    • 0018776371 scopus 로고
    • Normal serum iron and elevated total iron-binding capacity in iron-deficiency states
    • Ballas SK, (1979) Normal serum iron and elevated total iron-binding capacity in iron-deficiency states. Am J Clin Pathol 71: 401-403.
    • (1979) Am J Clin Pathol , vol.71 , pp. 401-403
    • Ballas, S.K.1
  • 19
    • 0033927849 scopus 로고    scopus 로고
    • Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
    • Whitfield JB, Cullen LM, Jazwinska EC, Powell LW, Heath AC, et al. (2000) Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 66: 1246-1258.
    • (2000) Am J Hum Genet , vol.66 , pp. 1246-1258
    • Whitfield, J.B.1    Cullen, L.M.2    Jazwinska, E.C.3    Powell, L.W.4    Heath, A.C.5
  • 20
    • 0033391822 scopus 로고    scopus 로고
    • The effect of transferrin polymorphisms on iron metabolism
    • Lee PL, Ho NJ, Olson R, Beutler E, (1999) The effect of transferrin polymorphisms on iron metabolism. Blood Cells Mol Dis 25: 374-379.
    • (1999) Blood Cells Mol Dis , vol.25 , pp. 374-379
    • Lee, P.L.1    Ho, N.J.2    Olson, R.3    Beutler, E.4
  • 21
    • 0034966041 scopus 로고    scopus 로고
    • Polymorphisms in the transferrin 5′ flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis
    • Lee PL, Halloran C, Beutler E, (2001) Polymorphisms in the transferrin 5′ flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis. Blood Cells Mol Dis 27: 539-548.
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 539-548
    • Lee, P.L.1    Halloran, C.2    Beutler, E.3
  • 22
    • 0035726009 scopus 로고    scopus 로고
    • Human transferrin G277S mutation: a risk factor for iron deficiency anaemia
    • Lee PL, Halloran C, Trevino R, Felitti V, Beutler E, (2001) Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol 115: 329-333.
    • (2001) Br J Haematol , vol.115 , pp. 329-333
    • Lee, P.L.1    Halloran, C.2    Trevino, R.3    Felitti, V.4    Beutler, E.5
  • 23
    • 0037716391 scopus 로고    scopus 로고
    • The G277S mutation in transferrin does not disturb function
    • Aisen P, (2003) The G277S mutation in transferrin does not disturb function. Br J Haematol 121: 674-675.
    • (2003) Br J Haematol , vol.121 , pp. 674-675
    • Aisen, P.1
  • 25
    • 35349002878 scopus 로고    scopus 로고
    • Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
    • Milet J, Dehais V, Bourgain C, Jouanolle AM, Mosser A, et al. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet 81: 799-807.
    • (2007) Am J Hum Genet , vol.81 , pp. 799-807
    • Milet, J.1    Dehais, V.2    Bourgain, C.3    Jouanolle, A.M.4    Mosser, A.5
  • 26
    • 63449103712 scopus 로고    scopus 로고
    • BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
    • Andriopoulos B Jr, Corradini E, Xia Y, Faasse SA, Chen S, et al. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nat Genet 41: 482-487.
    • (2009) Nat Genet , vol.41 , pp. 482-487
    • Andriopoulos Jr., B.1    Corradini, E.2    Xia, Y.3    Faasse, S.A.4    Chen, S.5
  • 27
    • 84984775346 scopus 로고    scopus 로고
    • BMP6 orchestrates iron metabolism
    • Camaschella C, (2009) BMP6 orchestrates iron metabolism. Nat Genet 41: 386-388.
    • (2009) Nat Genet , vol.41 , pp. 386-388
    • Camaschella, C.1
  • 28
    • 70450212843 scopus 로고    scopus 로고
    • Role of matriptase-2 (TMPRSS6) in iron metabolism
    • Lee P, (2009) Role of matriptase-2 (TMPRSS6) in iron metabolism. Acta Haematol 122: 87-96.
    • (2009) Acta Haematol , vol.122 , pp. 87-96
    • Lee, P.1
  • 29
    • 63449122819 scopus 로고    scopus 로고
    • Lack of the bone morphogenetic protein BMP6 induces massive iron overload
    • Meynard D, Kautz L, Darnaud V, Canonne-Hergaux F, Coppin H, et al. (2009) Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nat Genet 41: 478-481.
    • (2009) Nat Genet , vol.41 , pp. 478-481
    • Meynard, D.1    Kautz, L.2    Darnaud, V.3    Canonne-Hergaux, F.4    Coppin, H.5
  • 30
    • 42649118442 scopus 로고    scopus 로고
    • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
    • Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, et al. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet 40: 569-571.
    • (2008) Nat Genet , vol.40 , pp. 569-571
    • Finberg, K.E.1    Heeney, M.M.2    Campagna, D.R.3    Aydinok, Y.4    Pearson, H.A.5
  • 31
    • 52649096861 scopus 로고    scopus 로고
    • Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency
    • Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, et al. (2008) Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood 112: 2089-2091.
    • (2008) Blood , vol.112 , pp. 2089-2091
    • Guillem, F.1    Lawson, S.2    Kannengiesser, C.3    Westerman, M.4    Beaumont, C.5
  • 32
    • 54349094273 scopus 로고    scopus 로고
    • A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron
    • Melis MA, Cau M, Congiu R, Sole G, Barella S, et al. (2008) A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron. Haematologica 93: 1473-1479.
    • (2008) Haematologica , vol.93 , pp. 1473-1479
    • Melis, M.A.1    Cau, M.2    Congiu, R.3    Sole, G.4    Barella, S.5
  • 34
    • 70349208543 scopus 로고    scopus 로고
    • A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis
    • Constantine CC, Anderson GJ, Vulpe CD, McLaren CE, Bahlo M, et al. (2009) A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. Br J Haematol 147: 140-149.
    • (2009) Br J Haematol , vol.147 , pp. 140-149
    • Constantine, C.C.1    Anderson, G.J.2    Vulpe, C.D.3    McLaren, C.E.4    Bahlo, M.5
  • 35
    • 58049202750 scopus 로고    scopus 로고
    • Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    • Benyamin B, McRae AF, Zhu G, Gordon S, Henders AK, et al. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Am J Hum Genet 84: 60-65.
    • (2009) Am J Hum Genet , vol.84 , pp. 60-65
    • Benyamin, B.1    McRae, A.F.2    Zhu, G.3    Gordon, S.4    Henders, A.K.5
  • 36
    • 70350628958 scopus 로고    scopus 로고
    • Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    • Benyamin B, Ferreira MA, Willemsen G, Gordon S, Middelberg RP, et al. (2009) Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet 41: 1173-1175.
    • (2009) Nat Genet , vol.41 , pp. 1173-1175
    • Benyamin, B.1    Ferreira, M.A.2    Willemsen, G.3    Gordon, S.4    Middelberg, R.P.5
  • 37
    • 70350638919 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
    • Chambers JC, Zhang W, Li Y, Sehmi J, Wass MN, et al. (2009) Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet 41: 1170-1172.
    • (2009) Nat Genet , vol.41 , pp. 1170-1172
    • Chambers, J.C.1    Zhang, W.2    Li, Y.3    Sehmi, J.4    Wass, M.N.5
  • 38
    • 74949090955 scopus 로고    scopus 로고
    • A genome-wide association analysis of serum iron concentrations
    • Tanaka T, Roy CN, Yao W, Matteini A, Semba RD, et al. (2010) A genome-wide association analysis of serum iron concentrations. Blood 115: 94-96.
    • (2010) Blood , vol.115 , pp. 94-96
    • Tanaka, T.1    Roy, C.N.2    Yao, W.3    Matteini, A.4    Semba, R.D.5
  • 39
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP, (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 335: 1799-1805.
    • (1996) N Engl J Med , vol.335 , pp. 1799-1805
    • Bulaj, Z.J.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 40
    • 0031700041 scopus 로고    scopus 로고
    • 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?
    • Datz C, Haas T, Rinner H, Sandhofer F, Patsch W, et al. (1998) 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? Clin Chem 44: 2429-2432.
    • (1998) Clin Chem , vol.44 , pp. 2429-2432
    • Datz, C.1    Haas, T.2    Rinner, H.3    Sandhofer, F.4    Patsch, W.5
  • 41
    • 0344837836 scopus 로고    scopus 로고
    • Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
    • Beutler E, Felitti V, Gelbart T, Waalen J, (2003) Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry. Br J Haematol 120: 887-893.
    • (2003) Br J Haematol , vol.120 , pp. 887-893
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3    Waalen, J.4
  • 42
    • 0345415017 scopus 로고    scopus 로고
    • HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes
    • Raddatz D, Legler T, Lynen R, Addicks N, Ramadori G, (2003) HFE genotype and parameters of iron metabolism in German first-time blood donors- evidence for an increased transferrin saturation in C282Y heterozygotes. Z Gastroenterol 41: 1069-1076.
    • (2003) Z Gastroenterol , vol.41 , pp. 1069-1076
    • Raddatz, D.1    Legler, T.2    Lynen, R.3    Addicks, N.4    Ramadori, G.5
  • 43
    • 34250076764 scopus 로고
    • Selective genotyping for determination of linkage between a marker locus and a quantitative trait locus
    • Darvasi A, Soller M, (1992) Selective genotyping for determination of linkage between a marker locus and a quantitative trait locus. Theor Appl Genet 85: 353-359.
    • (1992) Theor Appl Genet , vol.85 , pp. 353-359
    • Darvasi, A.1    Soller, M.2
  • 44
    • 0344737638 scopus 로고    scopus 로고
    • Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations
    • McLaren CE, Li KT, Garner CP, Beutler E, Gordeuk VR, (2003) Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations. Blood 102: 4563-4566.
    • (2003) Blood , vol.102 , pp. 4563-4566
    • McLaren, C.E.1    Li, K.T.2    Garner, C.P.3    Beutler, E.4    Gordeuk, V.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.