SEARCH

SEARCH BY CITATION

References

  • Adams, P.C. (2008) Natural history of hemochromatosis: heading down the up escalator? Gastroenterology, 135, 18551857.
  • Allen, K.J., Gurrin, L.C., Constantine, C.C., Osborne, N.J., Delatycki, M.B., Nicoll, A.J., McLaren, C.E., Bahlo, M., Nisselle, A.E., Vulpe, C.D., Anderson, G.J., Southey, M.C., Giles, G.G., English, D.R., Hopper, J.L., Olynyk, J.K., Powell, L.W. & Gertig, D.M. (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. New England Journal of Medicine, 358, 221230.
  • Andriopoulos, B., Jr, Corradini, E., Xia, Y., Faasse, S.A., Chen, S., Grgurevic, L., Knutson, M.D., Pietrangelo, A., Vukicevic, S., Lin, H.Y. & Babitt, J.L. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. Nature Genetics, 41, 482487.
  • Benyamin, B., McRae, A.F., Zhu, G., Gordon, S., Henders, A.K., Palotie, A., Peltonen, L., Martin, N.G., Montgomery, G.W., Whitfield, J.B. & Visscher, P.M. (2009) Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. American Journal of Human Genetics, 84, 6065.
  • Browning, B.L. & Browning, S.R. (2007) Efficient multilocus association testing for whole genome association studies using localized haplotype clustering. Genetic Epidemiology, 31, 365375.
  • Bulaj, Z.J., Ajioka, R.S., Phillips, J.D., LaSalle, B.A., Jorde, L.B., Griffen, L.M., Edwards, C.Q. & Kushner, J.P. (2000) Disease-Related Conditions in Relatives of Patients with Hemochromatosis. New England Journal of Medicine, 343, 15291535.
  • Camaschella, C. (2009) BMP6 orchestrates iron metabolism. Nature Genetics, 41, 386388.
  • Constantine, C.C., Gurrin, L.C., McLaren, C.E., Bahlo, M., Anderson, G.J., Vulpe, C.D., Forrest, S.M., Allen, K.J. & Gertig, D.M. (2008) SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis. BMC Medical Genetics, 2008 Mar 20, 9, article 18. http://www.biomedcentral.com/1471-2350/9/18.
  • Crawford, D.H., Halliday, J.W., Summers, K.M., Bourke, M.J. & Powell, L.W. (1993) Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage. Hepatology, 17, 833837.
  • Darshan, D. & Anderson, G.J. (2009) Interacting signals in the control of hepcidin expression. BioMetals, 22, 7787.
  • Finberg, K.E., Heeney, M.M., Campagna, D.R., Aydinok, Y., Pearson, H.A., Hartman, K.R., Mayo, M.M., Samuel, S.M., Strouse, J.J., Markianos, K., Andrews, N.C. & Fleming, M.D. (2008) Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics, 40, 569571.
  • Ganz, T. (2008) Iron homeostasis: fitting the puzzle pieces together. Cell Metabolism, 7, 288290.
  • Gauderman, W.J., Murcray, C., Gilliland, F. & Conti, D.V. (2007) Testing association between disease and multiple SNPs in a candidate gene. Genetic Epidemiology, 31, 383395.
  • Giles, G.G. & English, D.R. (2002) The Melbourne Collaborative Cohort Study. IARC Scientific Publications, 156, 6970.
  • Guillem, F., Lawson, S., Kannengiesser, C., Westerman, M., Beaumont, C. & Grandchamp, B. (2008) Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. Blood, 112, 20892091.
  • Gurrin, L.C., Osborne, N.J., Constantine, C.C., McLaren, C.E., English, D.R., Gertig, D.M., Delatycki, M.B., Southey, M.C., Hopper, J.L., Giles, G.G., Anderson, G.J., Olynyk, J.K., Powell, L.W. & Allen, K.J. (2008) The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology, 135, 19451952.
  • Koziol, J.A., Ho, N.J., Felitti, V.J. & Beutler, E. (2001) Reference centiles for serum ferritin and percentage of transferrin saturation, with application to mutations of the hfe gene. Clinical Chemistry, 47, 18041810.
  • Latunde-Dada, G.O., Simpson, R.J. & McKie, A.T. (2008) Duodenal cytochrome B expression stimulates iron uptake by human intestinal epithelial cells. Journal of Nutrition, 138, 991995.
  • Leboeuf, R.C., Tolson, D. & Heinecke, J.W. (1995) Dissociation between tissue iron concentrations and transferrin saturation among inbred mouse strains. Journal of Laboratory and Clinical Medicine, 126, 128136.
  • Lee, P., Gelbart, T., West, C., Halloran, C. & Beutler, E. (2002) Seeking candidate mutations that affect iron homeostasis. Blood Cells Molecules and Diseases, 29, 471487.
  • Lettre, G., Lange, C. & Hirschhorn, J.N. (2007) Genetic model testing and statistical power in population-based association studies of quantitative traits. Genetic Epidemiology, 31, 358362.
  • McCune, C.A., Ravine, D., Carter, K., Jackson, H.A., Hutton, D., Hedderich, J., Krawczak, M. & Worwood, M. (2006) Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut, 55, 554562.
  • McLaren, C.E., Barton, J.C., McLaren, G.D., Acton, R.T., Adams, P.C., Henkin, L.F., Gordeuk, V.R., Eckfeldt, J.H., Vulpe, C.D., Harrison, B.W., Reiss, J.A. & Snively, B.M. (2008) Heritability of Iron Status Phenotype in the Hemochromatosis and Iron Overload Screening (HEIRS) Family Study. Blood (ASH Annual Meeting Abstracts), 112, 115.
  • Melis, M.A., Cau, M., Congiu, R., Sole, G., Barella, S., Cao, A., Westerman, M., Cazzola, M. & Galanello, R. (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, 14731479.
  • Meynard, D., Kautz, L., Darnaud, V., Canonne-Hergaux, F., Coppin, H. & Roth, M.P. (2009) Lack of the bone morphogenetic protein BMP6 induces massive iron overload. Nature Genetics, 41, 478481.
  • Milet, J., Dehais, V., Bourgain, C., Jouanolle, A.M., Mosser, A., Perrin, M., Morcet, J., Brissot, P., David, V., Deugnier, Y. & Mosser, J. (2007) Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. American Journal of Human Genetics, 81, 799807.
  • Njajou, O.T., Alizadeh, B.Z., Aulchenko, Y., Zillikens, M.C., Pols, H.A.P., Oostra, B.A., Swinkels, D.W. & Van Duijn, C.M. (2006) Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) study. Human Heredity, 61, 222228.
  • Nyholt, D.R. (2004) A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. American Journal of Human Genetics, 74, 765769.
  • Powell, L.W., Dixon, J.L., Ramm, G.A., Purdie, D.M., Lincoln, D.J., Anderson, G.J., Subramaniam, V.N., Hewett, D.G., Searle, J.W., Fletcher, L.M., Crawford, D.H., Rodgers, H., Allen, K.J., Cavanaugh, J.A. & Bassett, M.L. (2006) Screening for hemochromatosis in asymptomatic subjects with or without a family history. Archives of Internal Medicine, 166, 294301.
  • Sproule, T.J., Jazwinska, E.C., Britton, R.S., Bacon, B.R., Fleming, R.E., Sly, W.S. & Roopenian, D.C. (2001) Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta 2-microglobulin-deficient mice. Proceedings of the National Academy of Sciences of the United States of America, 98, 51705174.
  • Wallace, D.F. & Subramaniam, V.N. (2007) Non-HFE haemochromatosis. World Journal of Gastroenterology, 13, 46904698.
  • Whitfield, J.B., Cullen, L.M., Jazwinska, E.C., Powell, L.W., Heath, A.C., Zhu, G., Duffy, D.L. & Martin, N.G. (2000) Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. American Journal of Human Genetics, 66, 12461258.
  • Whiting, P.W., Fletcher, L.M., Dixon, J.K., Gochee, P., Powell, L.W. & Crawford, D.H.G. (2002) Concordance of iron indices in homozygote and heterozygote sibling pairs in hemochromatosis families: implications for family screening. Journal of Hepatology, 37, 309314.