Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

REFERENCES

• He X, Hahn P, Iacovelli J, et al. Iron homeostasis and toxicity in retinal degeneration. Prog Retin Eye Res. 2007;26:649–673.
   PubMed Web of Science ®Google Scholar
• Lehmann DJ, Worwood M, Ellis R, et al. Iron genes, iron load and risk of Alzheimer’s disease. J Med Genet. 2006;43:e52.
   Web of Science ®Google Scholar
• Hahn P, Milam AH, Dunaief JL. Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch’s membrane. Arch Ophthalmol. 2003;121:1099–1105.
   PubMedGoogle Scholar
• Dunaief JL, Richa C, Franks EP, et al. Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload. Ophthalmology. 2005;112:1062–1065.
   PubMed Web of Science ®Google Scholar
• Hahn P, Chen L, Beard J, Harris Z, Dunaief J. Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004;45:E-Abstract 2292.
   Web of Science ®Google Scholar
• Hadziahmetovic M, Dentchev T, Song Y, et al. Ceruloplasmin/hephaestin knockout mice model morphologic and molecular features of AMD. Invest Ophthalmol Vis Sci. 2008;49:2728–2736.
   PubMed Web of Science ®Google Scholar
• Chowers I, Wong R, Dentchev T, et al. The iron carrier transferrin is upregulated in retinas from patients with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006;47:2135–2140.
   PubMed Web of Science ®Google Scholar
• Chowers I, Gunatilaka T, Farkas R, et al. Identification of novel genes preferentially expressed in the retina using a custom human retina cDNA microarray. Invest Ophthalmol Vis Sci. 2003;44:3732–3741.
   PubMed Web of Science ®Google Scholar
• Picard E, Fontaine I, Jonet L, et al. The protective role of transferrin in Muller glial cells after iron-induced toxicity. Mol Vis. 2008;14:928–941.
   PubMed Web of Science ®Google Scholar
• Escobar Cabrera OE, Zakin MM, Soto EF, Pasquini JM. Single intracranial injection of apotransferrin in young rats increases the expression of specific myelin protein mRNA. J Neurosci Res. 1997;47:603–608.
   PubMed Web of Science ®Google Scholar
• Hyndman AG, Hockberger PE, Zeevalk GD, Connor JA. Transferrin can alter physiological properties of retinal neurons. Brain Res. 1991;561:318–323.
   PubMed Web of Science ®Google Scholar
• Namekata K, Imagawa M, Terashi A, Ohta S, Oyama F, Ihara Y. Association of transferrin C2 allele with late-onset Alzheimer’s disease. Hum Genet. 1997;101:126–129.
   PubMed Web of Science ®Google Scholar
• Van Rensburg SJ, Carstens ME, Potocnik FC, van der Spuy G, van der Walt BJ, Taljaard JJ. Transferrin C2 and Alzheimer’s disease: another piece of the puzzle found? Med Hypotheses. 1995;44:268–272.
   PubMed Web of Science ®Google Scholar
• Van Landeghem GF, Sikstrom C, Beckman LE, Adolfsson R, Beckman L. Transferrin C2, metal binding and Alzheimer’s disease. Neuroreport. 1998;9:177–179.
   PubMed Web of Science ®Google Scholar
• van Rensburg SJ, Potocnik FC, De Villiers JN, Kotze MJ, Taljaard JJ. Earlier age of onset of Alzheimer’s disease in patients with both the transferrin C2 and apolipoprotein E-epsilon 4 alleles. Ann N Y Acad Sci. 2000;903:200–203.
   PubMed Web of Science ®Google Scholar
• van Rensburg SJ, Carstens ME, Potocnik FC, Aucamp AK, Taljaard JJ. Increased frequency of the transferrin C2 subtype in Alzheimer’s disease. Neuroreport. 1993;4:1269–1271.
   PubMed Web of Science ®Google Scholar
• Zambenedetti P, De Bellis G, Biunno I, Musicco M, Zatta P. Transferrin C2 variant does confer a risk for Alzheimer’s disease in caucasians. J Alzheimers Dis. 2003;5:423–427.
   PubMed Web of Science ®Google Scholar
• Lleo A, Blesa R, Angelopoulos C, et al. Transferrin C2 allele, haemochromatosis gene mutations, and risk for Alzheimer’s disease. J Neurol Neurosurg Psychiatry. 2002;72:820–821.
   PubMed Web of Science ®Google Scholar
• Kim KW, Jhoo JH, Lee JH, et al. Transferrin C2 variant does not confer a risk for Alzheimer’s disease in Koreans. Neurosci Lett. 2001;308:45–48.
   PubMed Web of Science ®Google Scholar
• Hussain RI, Ballard CG, Edwardson JA, Morris CM. Transferrin gene polymorphism in Alzheimer’s disease and dementia with Lewy bodies in humans. Neurosci Lett. 2002;317:13–16.
   PubMed Web of Science ®Google Scholar
• Robson KJ, Lehmann DJ, Wimhurst VL, et al. Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer’s disease. J Med Genet. 2004;41:261–265.
   PubMed Web of Science ®Google Scholar
• Edwards AO. Genetics of age-related macular degeneration. Adv Exp Med Biol. 2008;613:211–219.
   PubMed Web of Science ®Google Scholar
• A randomized, placebo-controlled, clinical trial of high-dose supplementation with vitamins C and E, beta carotene, and zinc for age-related macular degeneration and vision loss: AREDS report no. 8. Arch Ophthalmol. 2001;119:1417–1436.
   PubMedGoogle Scholar
• Jouanolle AM, Gandon G, Jezequel P, et al. Haemochromatosis and HLA-H. Nat Genet. 1996;14:251–252.
   PubMed Web of Science ®Google Scholar
• Dentchev T, Hahn P, Dunaief JL. Strong labeling for iron and the iron-handling proteins ferritin and ferroportin in the photoreceptor layer in age-related macular degeneration. Arch Ophthalmol. 2005;123:1745–1746.
   PubMedGoogle Scholar
• Beckman L, Beckman G. Transferrin C2 as an enhancer of cyto- and genotoxic damage. Prog Clin Biol Res. 1986;209B:221–224.
   Google Scholar
• Zatta P, Messori L, Mauri P, et al. The C2 variant of human serum transferrin retains the iron binding properties of the native protein. Biochim Biophys Acta. 2005;1741:264–270.
   PubMed Web of Science ®Google Scholar
• Goland S, Beilinson N, Kaftouri A, Shimoni S, Caspi A, Malnick SD. Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients. Eur J Heart Fail. 2004;6:547–550.
   PubMed Web of Science ®Google Scholar