메뉴 건너뛰기




Volumn 145, Issue 5, 2015, Pages 945-953

Common variants and haplotypes in the TF, TNF-α, and TMPRSS6 genes are associated with iron status in a female black South African population

Author keywords

African population; Anemia; Genetic variants; Iron deficiency; Iron status; Polymorphisms

Indexed keywords

C REACTIVE PROTEIN; DNA; HEMOGLOBIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IRON; MEMBRANE PROTEIN; SOLUBLE TRANSFERRIN RECEPTOR; TRANSFERRIN; TRANSFERRIN RECEPTOR; TRANSMEMBRANE PROTEASE SERINE 6; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG; HLA ANTIGEN CLASS 2; NFKBIL1 PROTEIN, HUMAN; SERINE PROTEINASE; TMPRSS6 PROTEIN, HUMAN; TNF PROTEIN, HUMAN;

EID: 84929492858     PISSN: 00223166     EISSN: 15416100     Source Type: Journal    
DOI: 10.3945/jn.114.209148     Document Type: Article
Times cited : (17)

References (63)
  • 2
    • 0035146908 scopus 로고    scopus 로고
    • An analysis of anemia and pregnancy-related maternal mortality
    • Brabin BJ, Hakimi M, Pelletier D. An analysis of anemia and pregnancy-related maternal mortality. J Nutr 2001;131:604-14S.
    • (2001) J Nutr , vol.131 , pp. 604-614S
    • Brabin, B.J.1    Hakimi, M.2    Pelletier, D.3
  • 4
    • 0035150473 scopus 로고    scopus 로고
    • Iron deficiency and reduced work capacity: a critical review of the research to determine a causal relationship
    • Haas JD, Brownlie T IV. Iron deficiency and reduced work capacity: a critical review of the research to determine a causal relationship. J Nutr 2001;131:676-88S.
    • (2001) J Nutr , vol.131 , pp. 676-688S
    • Haas, J.D.1    Brownlie, T.2
  • 5
    • 0036201255 scopus 로고    scopus 로고
    • Marginal iron deficiency without anemia impairs aerobic adaptation among previously untrained women
    • Brownlie T IV, Utermohlen V, Hinton PS, Giordano C, Haas JD. Marginal iron deficiency without anemia impairs aerobic adaptation among previously untrained women. Am J Clin Nutr 2002;75: 734-42.
    • (2002) Am J Clin Nutr , vol.75 , pp. 734-742
    • Brownlie, T.1    Utermohlen, V.2    Hinton, P.S.3    Giordano, C.4    Haas, J.D.5
  • 6
    • 0037304555 scopus 로고    scopus 로고
    • Iron supplementation improves progressive fatigue resistance during dynamic knee extensor exercise in iron-depleted, nonanemic women
    • Brutsaert TD, Hernandez-Cordero S, Rivera J, Viola T, Hughes G, Haas JD. Iron supplementation improves progressive fatigue resistance during dynamic knee extensor exercise in iron-depleted, nonanemic women. Am J Clin Nutr 2003;77:441-8.
    • (2003) Am J Clin Nutr , vol.77 , pp. 441-448
    • Brutsaert, T.D.1    Hernandez-Cordero, S.2    Rivera, J.3    Viola, T.4    Hughes, G.5    Haas, J.D.6
  • 7
    • 0037303374 scopus 로고    scopus 로고
    • The economics of iron deficiency
    • Horton S Jr. The economics of iron deficiency. Food Policy 2003;28: 51-75.
    • (2003) Food Policy , vol.28 , pp. 51-75
    • Horton Jr, S.1
  • 8
    • 0029353515 scopus 로고
    • Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains
    • Leboeuf RC, Tolson D, Heinecke JW. Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains. J Lab Clin Med 1995;126:128-36.
    • (1995) J Lab Clin Med , vol.126 , pp. 128-136
    • Leboeuf, R.C.1    Tolson, D.2    Heinecke, J.W.3
  • 9
    • 0035889141 scopus 로고    scopus 로고
    • Relationship between transferrin saturation and iron stores in the African American and US Caucasian populations: analysis of data from the third National Health and Nutrition Examination Survey
    • McLaren CE, Li KT, Gordeuk VR, Hasselblad V, McLaren GD. Relationship between transferrin saturation and iron stores in the African American and US Caucasian populations: analysis of data from the third National Health and Nutrition Examination Survey. Blood 2001;98:2345-51.
    • (2001) Blood , vol.98 , pp. 2345-2351
    • McLaren, C.E.1    Li, K.T.2    Gordeuk, V.R.3    Hasselblad, V.4    McLaren, G.D.5
  • 10
    • 0033036854 scopus 로고    scopus 로고
    • A genetic developmental model of iron deficiency: biological aspects
    • Morse AC, Beard JL, Jones BC. A genetic developmental model of iron deficiency: biological aspects. Proc Soc Exp Biol Med 1999;220:147-52.
    • (1999) Proc Soc Exp Biol Med , vol.220 , pp. 147-152
    • Morse, A.C.1    Beard, J.L.2    Jones, B.C.3
  • 12
    • 37149051777 scopus 로고    scopus 로고
    • Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy
    • Marroni F, Grazio D, Pattaro C, Devoto M, Pramstaller P. Estimates of genetic and environmental contribution to 43 quantitative traits support sharing of a homogeneous environment in an isolated population from South Tyrol, Italy. Hum Hered 2008;65:175-82.
    • (2008) Hum Hered , vol.65 , pp. 175-182
    • Marroni, F.1    Grazio, D.2    Pattaro, C.3    Devoto, M.4    Pramstaller, P.5
  • 13
    • 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, Zillikens MC, Pols HA, Oostra BA, Swinkels DW, van Duijn CM. Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) Study. Hum Hered 2006;61:222-8.
    • (2006) Hum Hered , vol.61 , pp. 222-228
    • Njajou, O.T.1    Alizadeh, B.Z.2    Aulchenko, Y.3    Zillikens, M.C.4    Pols, H.A.5    Oostra, B.A.6    Swinkels, D.W.7    van Duijn, C.M.8
  • 21
    • 84859243904 scopus 로고    scopus 로고
    • TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia
    • An P,Wu Q,Wang H, Guan Y, Mu M, Liao Y, Zhou D, Song P,Wang C, Meng L, et al. TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia. Hum Mol Genet 2012;21:2124-31.
    • (2012) Hum Mol Genet , vol.21 , pp. 2124-2131
    • An, P.1    Wu, Q.2    Wang, H.3    Guan, Y.4    Mu, M.5    Liao, Y.6    Zhou, D.7    Song, P.8    Wang, C.9    Meng, L.10
  • 22
    • 84863229728 scopus 로고    scopus 로고
    • Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population
    • Gan W, Guan Y, Wu Q, An P, Zhu J, Lu L, Jing L, Yu Y, Ruan S, Xie D, et al. Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population. Am J Clin Nutr 2012;95:626-32.
    • (2012) Am J Clin Nutr , vol.95 , pp. 626-632
    • Gan, W.1    Guan, Y.2    Wu, Q.3    An, P.4    Zhu, J.5    Lu, L.6    Jing, L.7    Yu, Y.8    Ruan, S.9    Xie, D.10
  • 23
    • 65449184945 scopus 로고    scopus 로고
    • Worldwide prevalence of anaemia, WHO Vitamin and Mineral Nutrition Information System 1993-2005
    • McLean E, Cogswell E, Egli I, Wojdyla D, de Benoist B. Worldwide prevalence of anaemia, WHO Vitamin and Mineral Nutrition Information System 1993-2005. Public Health Nutr 2009;12:444-54.
    • (2009) Public Health Nutr , vol.12 , pp. 444-454
    • McLean, E.1    Cogswell, E.2    Egli, I.3    Wojdyla, D.4    de Benoist, B.5
  • 24
    • 0029075655 scopus 로고
    • Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups
    • Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC. Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 1995;57:133-49.
    • (1995) Am J Hum Genet , vol.57 , pp. 133-149
    • Chen, Y.S.1    Torroni, A.2    Excoffier, L.3    Santachiara-Benerecetti, A.S.4    Wallace, D.C.5
  • 27
    • 66949175244 scopus 로고    scopus 로고
    • Human DNA sequences: more variation and less race
    • Long JC, Li J, Healy ME. Human DNA sequences: more variation and less race. Am J Phys Anthropol 2009;139:23-34.
    • (2009) Am J Phys Anthropol , vol.139 , pp. 23-34
    • Long, J.C.1    Li, J.2    Healy, M.E.3
  • 28
    • 67049146795 scopus 로고    scopus 로고
    • The Prospective Urban Rural Epidemiology (PURE) study: examining the impact of societal influences on chronic noncommunicable diseases in low-, middle-, and high-income countries
    • Teo K, Chow CK, Vaz M, Rangarajan S, Yusuf S; PURE Investigators- Writing Group. The Prospective Urban Rural Epidemiology (PURE) study: examining the impact of societal influences on chronic noncommunicable diseases in low-, middle-, and high-income countries. Am Heart J 2009;158:1-7.
    • (2009) Am Heart J , vol.158 , pp. 1-7
    • Teo, K.1    Chow, C.K.2    Vaz, M.3    Rangarajan, S.4    Yusuf, S.5
  • 29
    • 80054048981 scopus 로고    scopus 로고
    • The relationship between indices of iron status and selected anthropometric cardiovascular disease risk markers in an African population: the THUSA study
    • Aderibigbe OR, Pisa PT, Mamabolo RL, Kruger HS, Vorster HH. The relationship between indices of iron status and selected anthropometric cardiovascular disease risk markers in an African population: the THUSA study. Cardiovasc J Afr 2011;22:249-56.
    • (2011) Cardiovasc J Afr , vol.22 , pp. 249-256
    • Aderibigbe, O.R.1    Pisa, P.T.2    Mamabolo, R.L.3    Kruger, H.S.4    Vorster, H.H.5
  • 30
    • 0037866396 scopus 로고    scopus 로고
    • The quantitative assessment of body iron
    • Cook JD, Flowers CH, Skikne BS. The quantitative assessment of body iron. Blood 2003;101:3359-64.
    • (2003) Blood , vol.101 , pp. 3359-3364
    • Cook, J.D.1    Flowers, C.H.2    Skikne, B.S.3
  • 31
    • 0035129217 scopus 로고    scopus 로고
    • A culture-sensitive quantitative food frequency questionnaire used in an African population: 1. Development and reproducibility
    • MacIntyre UE, Venter CS, Vorster HH. A culture-sensitive quantitative food frequency questionnaire used in an African population: 1. Development and reproducibility. Public Health Nutr 2001;4:53-62.
    • (2001) Public Health Nutr , vol.4 , pp. 53-62
    • MacIntyre, U.E.1    Venter, C.S.2    Vorster, H.H.3
  • 32
    • 0035129131 scopus 로고    scopus 로고
    • A culture-sensitive quantitative food frequency questionnaire used in an African population: Relative validation by 7-day weighted records and biomarkers
    • MacIntyre UE, Venter CS, Vorster HH. A culture-sensitive quantitative food frequency questionnaire used in an African population: 2. Relative validation by 7-day weighted records and biomarkers. Public Health Nutr 2001;4:63-71.
    • (2001) Public Health Nutr , vol.4 , pp. 63-71
    • MacIntyre, U.E.1    Venter, C.S.2    Vorster, H.H.3
  • 34
    • 84925955044 scopus 로고    scopus 로고
    • Inter-ethnic differences in genetic variants within the transmembrane protease, serine 6 (TMPRSS6) gene associated with iron status indicators: a systematic review with meta-analyses
    • Gichohi-Wainaina WN, Towers GW, Swinkels DW, Zimmermann MB, Feskens EJ, Melse-Boonstra A. Inter-ethnic differences in genetic variants within the transmembrane protease, serine 6 (TMPRSS6) gene associated with iron status indicators: a systematic review with meta-analyses. Genes Nutr 2015;10:442.
    • (2015) Genes Nutr , vol.10 , pp. 442
    • Gichohi-Wainaina, W.N.1    Towers, G.W.2    Swinkels, D.W.3    Zimmermann, M.B.4    Feskens, E.J.5    Melse-Boonstra, A.6
  • 35
    • 84929488810 scopus 로고    scopus 로고
    • 1000Genomes.org [Internet]. 1000 Genomes project. Cambridge (United Kingdom): European Bioinformatics Institute (EMBL-EBI); c2012 [cited Feb 1]. Available from:
    • 1000Genomes.org [Internet]. 1000 Genomes project. Cambridge (United Kingdom): European Bioinformatics Institute (EMBL-EBI); c2012 [cited 2014 Feb 1]. Available from: http://browser.1000genomes.org/index.html.
    • (2014)
  • 39
    • 77958522275 scopus 로고    scopus 로고
    • A genome-wide association study of red blood cell traits using the electronic medical record
    • Kullo IJ, Ding K, Jouni H, Smith CY, Chute CG. A genome-wide association study of red blood cell traits using the electronic medical record. PLoS ONE 2010;5:e130115.
    • (2010) PLoS ONE , vol.5
    • Kullo, I.J.1    Ding, K.2    Jouni, H.3    Smith, C.Y.4    Chute, C.G.5
  • 40
    • 81755177812 scopus 로고    scopus 로고
    • Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution
    • Erratum in: PLoS Genet 2011;7 (corrected Ferrer- Admettla A to Ferrer-Admetlla A)
    • Fumagalli M, Sironi M, Pozzoli U, Ferrer-Admetlla A, Pattini L, Nielsen R. Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLoS Genet 2011;7:e1002355. Erratum in: PLoS Genet 2011;7 (corrected Ferrer- Admettla A to Ferrer-Admetlla A).
    • (2011) PLoS Genet , vol.7
    • Fumagalli, M.1    Sironi, M.2    Pozzoli, U.3    Ferrer-Admetlla, A.4    Pattini, L.5    Nielsen, R.6
  • 41
    • 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. Polymorphisms in the transferrin 5# flanking region associated with differences in total iron binding capacity: possible implications in iron homeostasis. Blood Cells Mol Dis 2001;27:539-48.
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 539-548
    • Lee, P.L.1    Halloran, C.2    Beutler, E.3
  • 42
    • 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. Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. Br J Haematol 2001;115:329-33.
    • (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
  • 43
    • 0033391822 scopus 로고    scopus 로고
    • The effect of transferrin polymorphisms on iron metabolism
    • Lee PL, Ho NJ, Olson R, Beutler E. The effect of transferrin polymorphisms on iron metabolism. Blood Cells Mol Dis 1999;25:374-9.
    • (1999) Blood Cells Mol Dis , vol.25 , pp. 374-379
    • Lee, P.L.1    Ho, N.J.2    Olson, R.3    Beutler, E.4
  • 49
    • 0024431912 scopus 로고
    • Induction of hypoferremia and modulation of macrophage iron metabolism by tumor necrosis factor
    • Alvarez-Hernández X, Liceaga J, McKay IC, Brock JH. Induction of hypoferremia and modulation of macrophage iron metabolism by tumor necrosis factor. Lab Invest 1989;61:319-22.
    • (1989) Lab Invest , vol.61 , pp. 319-322
    • Alvarez-Hernández, X.1    Liceaga, J.2    McKay, I.C.3    Brock, J.H.4
  • 51
    • 4344618718 scopus 로고    scopus 로고
    • Tumour necrosis factor alpha regulates iron transport and transporter expression in human intestinal epithelial cells
    • Johnson D, Bayele H, Johnston K, Tennant J, Srai SK, Sharp P. Tumour necrosis factor alpha regulates iron transport and transporter expression in human intestinal epithelial cells. FEBS Lett 2004;573:195-201.
    • (2004) FEBS Lett , vol.573 , pp. 195-201
    • Johnson, D.1    Bayele, H.2    Johnston, K.3    Tennant, J.4    Srai, S.K.5    Sharp, P.6
  • 53
    • 0034763963 scopus 로고    scopus 로고
    • Tumor necrosis factor-alpha promoter variant 2 (TNF2) is associated with pre-term delivery, infant mortality, and malaria morbidity in western Kenya: Asembo Bay Cohort Project IX
    • Aidoo M, McElroy PD, Kolczak MS, Terlouw DJ, ter Kuile FO, Nahlen B, Lal AA, Udhayakumar V. Tumor necrosis factor-alpha promoter variant 2 (TNF2) is associated with pre-term delivery, infant mortality, and malaria morbidity in western Kenya: Asembo Bay Cohort Project IX. Genet Epidemiol 2001;21:201-11.
    • (2001) Genet Epidemiol , vol.21 , pp. 201-211
    • Aidoo, M.1    McElroy, P.D.2    Kolczak, M.S.3    Terlouw, D.J.4    Ter Kuile, F.O.5    Nahlen, B.6    Lal, A.A.7    Udhayakumar, V.8
  • 54
    • 0028169333 scopus 로고
    • Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria
    • McGuire W, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature 1994;371:508-10.
    • (1994) Nature , vol.371 , pp. 508-510
    • McGuire, W.1    Hill, A.V.2    Allsopp, C.E.3    Greenwood, B.M.4    Kwiatkowski, D.5
  • 55
    • 84892657750 scopus 로고    scopus 로고
    • The liver: conductor of systemic iron balance
    • Meynard D, Babitt JL, Lin HY. The liver: conductor of systemic iron balance. Blood 2014;123:168-76.
    • (2014) Blood , vol.123 , pp. 168-176
    • Meynard, D.1    Babitt, J.L.2    Lin, H.Y.3
  • 56
    • 84856292277 scopus 로고    scopus 로고
    • Iron overload in human disease
    • Fleming RE, Ponka P. Iron overload in human disease. N Engl J Med 2012;366:348-59.
    • (2012) N Engl J Med , vol.366 , pp. 348-359
    • Fleming, R.E.1    Ponka, P.2
  • 60
    • 84879287709 scopus 로고    scopus 로고
    • World distribution, population genetics, and health burden of the hemoglobinopathies
    • Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med 2012;2:a011692.
    • (2012) Cold Spring Harb Perspect Med , vol.2
    • Williams, T.N.1    Weatherall, D.J.2
  • 61
  • 62
    • 84902021282 scopus 로고    scopus 로고
    • Iron biology, immunology, aging, and obesity: four fields connected by the small peptide hormone hepcidin
    • Dao MC, Meydani SN. Iron biology, immunology, aging, and obesity: four fields connected by the small peptide hormone hepcidin. Adv Nutr 2013;4:602-17.
    • (2013) Adv Nutr , vol.4 , pp. 602-617
    • Dao, M.C.1    Meydani, S.N.2
  • 63
    • 77954540909 scopus 로고    scopus 로고
    • Pathologic conditions associated with elevated plasma soluble transferrin receptor levels in elderly iron replete anemic patients
    • Karlsson T. Pathologic conditions associated with elevated plasma soluble transferrin receptor levels in elderly iron replete anemic patients. Int J Hematol 2010;91:723-4.
    • (2010) Int J Hematol , vol.91 , pp. 723-724
    • Karlsson, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.