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Volumn 85, Issue 2, 2010, Pages 101-105

Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study

(13)  McLaren, Christine E a   Barton, James C b   Eckfeldt, John H c   McLaren, Gordon D d,e   Acton, Ronald T f   Adams, Paul C g   Henkin, Leora F h   Gordeuk, Victor R i   Vulpe, Chris D j   Harris, Emily L k   Harrison, Barbara W l   Reiss, Jacob A m   Snively, Beverly M h  


Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

EID: 75449090777     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21585     Document Type: Article
Times cited : (13)

References (38)
  • 1
    • 0023901798 scopus 로고
    • Prevalence of hemochromatosis among 11,065 presumably healthy blood donors
    • Edwards CQ, Griffen LM, Goldgar D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-1362.
    • (1988) N Engl J Med , vol.318 , pp. 1355-1362
    • Edwards, C.Q.1    Griffen, L.M.2    Goldgar, D.3
  • 2
    • 0033912834 scopus 로고    scopus 로고
    • Population screening in hereditary hemochromatosis
    • Motulsky AG, Beutler E. Population screening in hereditary hemochromatosis. Annu Rev Public Health 2000;21:65-79.
    • (2000) Annu Rev Public Health , vol.21 , pp. 65-79
    • Motulsky, A.G.1    Beutler, E.2
  • 3
    • 0032401727 scopus 로고    scopus 로고
    • Hemochromatosis Management Working Group. Management of hemochromatosis
    • Barton JC, McDonnell SM, Adams PC, et al.Hemochromatosis Management Working Group. Management of hemochromatosis. Ann Intern Med 1998;129:932-939.
    • (1998) Ann Intern Med , vol.129 , pp. 932-939
    • Barton, J.C.1    McDonnell, S.M.2    Adams, P.C.3
  • 4
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 5
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-1477.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 6
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997;61:762-764.
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 7
    • 0033848697 scopus 로고    scopus 로고
    • Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
    • Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
  • 9
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - A new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis - A new look at an old disease. N Engl J Med 2004;350:2383-2397.
    • (2004) N Engl J Med , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 11
    • 0037338525 scopus 로고    scopus 로고
    • Relative importance of female-specific and non-female-specific effects on variation in iron stores between women
    • Whitfield JB, Treloar S, Zhu G, et al. Relative importance of female-specific and non-female-specific effects on variation in iron stores between women. Br J Haematol 2003;120:860-866.
    • (2003) Br J Haematol , vol.120 , pp. 860-866
    • Whitfield, J.B.1    Treloar, S.2    Zhu, G.3
  • 12
    • 0033941827 scopus 로고    scopus 로고
    • Association of age, sex, and race with body iron stores in adults: Analysis of NHANES III data
    • Zacharski LR, Ornstein DL, Woloshin S, et al. Association of age, sex, and race with body iron stores in adults: Analysis of NHANES III data. Am Heart J 2000;140:98-104.
    • (2000) Am Heart J , vol.140 , pp. 98-104
    • Zacharski, L.R.1    Ornstein, D.L.2    Woloshin, S.3
  • 13
    • 0037378667 scopus 로고    scopus 로고
    • Penetrance of haemochromatosis
    • Beutler E. Penetrance of haemochromatosis. Gut 2003;52:610-611.
    • (2003) Gut , vol.52 , pp. 610-611
    • Beutler, E.1
  • 14
    • 40849097776 scopus 로고    scopus 로고
    • Heritability in the genomics era - Concepts and misconceptions
    • Visscher PM, Hill WG, Wray NR. Heritability in the genomics era - Concepts and misconceptions. Nat Rev Genet 2008;9:255-266.
    • (2008) Nat Rev Genet , vol.9 , pp. 255-266
    • Visscher, P.M.1    Hill, W.G.2    Wray, N.R.3
  • 15
    • 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, et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;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
  • 16
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778.
    • (2005) N Engl J Med , vol.352 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 17
    • 34249710869 scopus 로고    scopus 로고
    • A genome-wide linkage scan for iron phenotype quantitative trait loci: The HEIRS Family Study
    • Acton RT, Snively BM, Barton JC, et al. A genome-wide linkage scan for iron phenotype quantitative trait loci: The HEIRS Family Study. Clin Genet 2007;71:518-529.
    • (2007) Clin Genet , vol.71 , pp. 518-529
    • Acton, R.T.1    Snively, B.M.2    Barton, J.C.3
  • 19
    • 0031966959 scopus 로고    scopus 로고
    • Multipoint quantitative-trait linkage analysis in general pedigrees
    • Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998;62:1198-1211.
    • (1998) Am J Hum Genet , vol.62 , pp. 1198-1211
    • Almasy, L.1    Blangero, J.2
  • 20
    • 70449587089 scopus 로고    scopus 로고
    • HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS study participants
    • Barton JC, Lafreniere SA, Leiendecker-Foster C, et al. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS study participants. Am J Hematol 2009;84:710-714.
    • (2009) Am J Hematol , vol.84 , pp. 710-714
    • Barton, J.C.1    Lafreniere, S.A.2    Leiendecker-Foster, C.3
  • 21
    • 18344401294 scopus 로고    scopus 로고
    • Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062; Erratum, Am J Hum Genet 1999;64:491.
    • Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-1062; Erratum, Am J Hum Genet 1999;64:491.
  • 22
    • 34249746554 scopus 로고    scopus 로고
    • Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • Acton RT, Barton JC, Snively BM, et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn Dis 2006;16:815-821.
    • (2006) Ethn Dis , vol.16 , pp. 815-821
    • Acton, R.T.1    Barton, J.C.2    Snively, B.M.3
  • 23
    • 63449103712 scopus 로고    scopus 로고
    • BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism
    • Andriopoulos B, Corradini E, Xia Y, et al. BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nat Genet 2009;41:482-487.
    • (2009) Nat Genet , vol.41 , pp. 482-487
    • Andriopoulos, B.1    Corradini, E.2    Xia, Y.3
  • 24
    • 84984775346 scopus 로고    scopus 로고
    • BMP6 orchestrates iron metabolism
    • Camaschella C. BMP6 orchestrates iron metabolism. Nat Genet 2009;41:386-388.
    • (2009) Nat Genet , vol.41 , pp. 386-388
    • Camaschella, C.1
  • 25
    • 63449122819 scopus 로고    scopus 로고
    • Lack of the bone morphogenetic protein BMP6 induces massive iron overload
    • Meynard D, Kautz L, Darnaud V, et al. Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nat Genet 2009;41:478-481.
    • (2009) Nat Genet , vol.41 , pp. 478-481
    • Meynard, D.1    Kautz, L.2    Darnaud, V.3
  • 26
    • 33644876815 scopus 로고    scopus 로고
    • A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression
    • Wang RH, Li C, Xu X, et al. A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. Cell Metab 2005;2:399-409.
    • (2005) Cell Metab , vol.2 , pp. 399-409
    • Wang, R.H.1    Li, C.2    Xu, X.3
  • 27
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000;25:14-15.
    • (2000) Nat Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 28
    • 67651087324 scopus 로고    scopus 로고
    • The molecular basis of hepcidin-resistant hereditary hemochromatosis
    • Fernandes A, Preza GC, Phung Y, et al. The molecular basis of hepcidin-resistant hereditary hemochromatosis. Blood 2009;114:437-443.
    • (2009) Blood , vol.114 , pp. 437-443
    • Fernandes, A.1    Preza, G.C.2    Phung, Y.3
  • 29
    • 33749393565 scopus 로고    scopus 로고
    • Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing
    • Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. J Biol Chem 2006;281:28494-28498.
    • (2006) J Biol Chem , vol.281 , pp. 28494-28498
    • Goswami, T.1    Andrews, N.C.2
  • 30
    • 0036177789 scopus 로고    scopus 로고
    • A homozygous HFE gene splice site mutation (IVS511 G/A) in a hereditary hemochromatosis patient of Vietnamese origin
    • Steiner M, Ocran K, Genschel J, et al. A homozygous HFE gene splice site mutation (IVS511 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 2002;122:789-795.
    • (2002) Gastroenterology , vol.122 , pp. 789-795
    • Steiner, M.1    Ocran, K.2    Genschel, J.3
  • 31
    • 33846340821 scopus 로고    scopus 로고
    • Hemochromatosis (HFE) gene splice site mutation IVS511 G/A in North American Vietnamese with and without phenotypic evidence of iron overload
    • Steiner M, Leiendecker-Foster C, McLaren GD, et al. Hemochromatosis (HFE) gene splice site mutation IVS511 G/A in North American Vietnamese with and without phenotypic evidence of iron overload. Transl Res 2007;149:92-95.
    • (2007) Transl Res , vol.149 , pp. 92-95
    • Steiner, M.1    Leiendecker-Foster, C.2    McLaren, G.D.3
  • 33
    • 26244440542 scopus 로고    scopus 로고
    • Phenotype variation in C282Y homozygotes for the hemochromatosis gene
    • Lazarescu A, Snively BM, Adams PC. Phenotype variation in C282Y homozygotes for the hemochromatosis gene. Clin Gastroenterol Hepatol 2005;3:1043-1046.
    • (2005) Clin Gastroenterol Hepatol , vol.3 , pp. 1043-1046
    • Lazarescu, A.1    Snively, B.M.2    Adams, P.C.3
  • 34
    • 33748501230 scopus 로고    scopus 로고
    • Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study
    • Njajou OT, Alizadeh BZ, Aulchenko Y, et al. Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum Hered 2006;61:222-228.
    • (2006) Hum Hered , vol.61 , pp. 222-228
    • Njajou, O.T.1    Alizadeh, B.Z.2    Aulchenko, Y.3
  • 35
    • 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, et al. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am J Hum Genet 2007;81:799-807.
    • (2007) Am J Hum Genet , vol.81 , pp. 799-807
    • Milet, J.1    Dehais, V.2    Bourgain, C.3
  • 36
    • 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, et al. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Am J Hum Genet 2009;84:60-65.
    • (2009) Am J Hum Genet , vol.84 , pp. 60-65
    • Benyamin, B.1    McRae, A.F.2    Zhu, G.3
  • 37
    • 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, et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 2000;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
  • 38
    • 0036708279 scopus 로고    scopus 로고
    • Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: Implications for family screening
    • Whiting PW, Fletcher LM, Dixon JK, et al. Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: Implications for family screening. J Hepatol 2002;37:309-314.
    • (2002) J Hepatol , vol.37 , pp. 309-314
    • Whiting, P.W.1    Fletcher, L.M.2    Dixon, J.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.