HFE H63D, C282Y and AGTR1 A1166C Polymorphisms and Brain White Matter Lesions in the Aging Brain

REFERENCES

• Andrews N. C. (1999). Disorders of iron metabolism. N Engl J Med, 341, 1986–1995.
   PubMed Web of Science ®Google Scholar
• Benetos A., Gautier S., Ricard S., Topouchian J., Asmar R., Poirier O., Larosa E., Guize L., Safar M., Soubrier F., Cambien F. (1996). Influence of angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms on aortic stiffness in normotensive and hypertensive patients. Circulation, 94, 698–703.
   PubMed Web of Science ®Google Scholar
• Bennett M. J., J. A. Lebron, P. J. Bjorkman (2000). Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature, 403, 46–53.
   PubMed Web of Science ®Google Scholar
• Berg D., H. Hochstrasser, K. J. Schweitzer, O. Riess (2006). Disturbance of iron metabolism in Parkinson's disease—Ultrasonography as a biomarker. Neurotox Res, 9, 1–13.
   PubMed Web of Science ®Google Scholar
• Berlin D., G. Chong, H. Chertkow, H. Bergman, N. A. Phillips, H. M. Schipper (2004). Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI. Neurobiol Aging, 25, 465–474.
   PubMed Web of Science ®Google Scholar
• Biasiotto G., S. Goldwurm, D. Finazzi, S. Tunesi, A. Zecchinelli, F. Sironi, G. Pezzoli, P. Arosio (2008). HFE gene mutations in a population of Italian Parkinson's disease patients. Parkinsonism Relat Disord, 14, 426–430.
   PubMed Web of Science ®Google Scholar
• Bodmer J. G., S. G. Marsh, E. D. Albert, W. F. Bodmer, R. E. Bontrop, D. Charron, B. Dupont, H. A. Erlich, R. Fauchet, B. Mach, W. R. Mayr, P. Parham, T. Sasazuki, G. M. Schreuder, J. L. Strominger, A. Svejgaard, P. I. Terasaki (1997). Nomenclature for factors of the HLA system,, 1996. Tissue Antigens, 49(3 Pt 2), 297–321.
   PubMedGoogle Scholar
• Bonnardeaux A., E. Davies, X. Jeunemaitre, I. Fery, A. Charru, E. Clauser, L. Tiret, F. Cambien, P. Corvol, F. Soubrier (1994). Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension, 24, 63–69.
   PubMed Web of Science ®Google Scholar
• Bookheimer S., A. Burggren (2009). APOE-4 genotype and neurophysiological vulnerability to Alzheimer's and cognitive aging. Annu Rev Clin Psychol, 5, 343–362.
   PubMed Web of Science ®Google Scholar
• Buchanan D. D., P. A. Silburn, J. B. Chalk, D. G. Le Couteur, G. D. Mellick (2002). The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients. Neurosci Lett, 327, 91–94.
   PubMed Web of Science ®Google Scholar
• Chin M. H., W. J. Qian, H. Wang, V. A. Petyuk, J. S. Bloom, D. M. Sforza, G. Lacan, D. Liu, A. H. Khan, R. M. Cantor, D. J. Bigelow, W. P. Melega, Camp D. G. 2nd, R. D. Smith, D. J. Smith (2008). Mitochondrial dysfunction, oxidative stress, and apoptosis revealed by proteomic and transcriptomic analyses of the striata in two mouse models of Parkinson's disease. J Proteome Res, 7, 666–677.
   PubMed Web of Science ®Google Scholar
• Connor J. R., S. Y. Lee (2006). HFE mutations and Alzheimer's disease. J Alzheimers Dis, 10, 267–276.
   PubMed Web of Science ®Google Scholar
• Correia A. P., J. P. Pinto, V. Dias, C. Mascarenhas, S. Almeida, G. Porto (2009). CAT53 and HFE alleles in Alzheimer's disease: A putative protective role of the C282Y HFE mutation. Neurosci Lett, 457, 129–132.
   PubMed Web of Science ®Google Scholar
• de Leeuw F. E., J. C. de Groot, E. Achten, M. Oudkerk, L. M. Ramos, R. Heijboer, A. Hofman, J. Jolles, J. van Gijn, M. M. Breteler (2001). Prevalence of cerebral white matter lesions in elderly people: A population based magnetic resonance imaging study. The Rotterdam Scan Study. J Neurol Neurosurg Psychiatry, 70, 9–14.
   PubMed Web of Science ®Google Scholar
• de Leeuw F. E., F. Richard, J. C. de Groot, C. M. van Duijn, A. Hofman, J. Van Gijn, M. M. Breteler (2004). Interaction between hypertension, apoE, and cerebral white matter lesions. Stroke, 35, 1057–1060.
   PubMed Web of Science ®Google Scholar
• Egashira K. (2003). Molecular mechanisms mediating inflammation in vascular disease: Special reference to monocyte chemoattractant protein-1. Hypertension, 41(3 Pt 2), 834–41.
   PubMed Web of Science ®Google Scholar
• Enns C. A. (2006). Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis. Biol Res, 39, 105–111.
   PubMed Web of Science ®Google Scholar
• Enzinger C., F. Fazekas, S. Ropele, R. Schmidt (2007). Progression of cerebral white matter lesions—Clinical and radiological considerations. J Neurol Sci, 257, 5–10.
   PubMed Web of Science ®Google Scholar
• Fan H., S. Li, W. Gu, Y. Li, H. Ma, J. Luo, W. Wang, X. Lu (1998). [Association between angiotensin II type I receptor gene and human essential hypertension]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 15, 101–103. [In Chinese]
   PubMedGoogle Scholar
• Fasano M., B. Bergamasco, L. Lopiano (2006). Modifications of the iron-neuromelanin system in Parkinson's disease. J Neurochem, 96, 909–916.
   PubMed Web of Science ®Google Scholar
• Fazekas F., R. Kleinert, H. Offenbacher, R. Schmidt, G. Kleinert, F. Payer, H. Radner, H. Lechner (1993). Pathologic correlates of incidental MRI white matter signal hyperintensities. Neurology, 43, 1683–1689.
   PubMed Web of Science ®Google Scholar
• Fazekas F., K. Niederkorn, R. Schmidt, H. Offenbacher, S. Horner, G. Bertha, H. Lechner (1988). White matter signal abnormalities in normal individuals: Correlation with carotid ultrasonography, cerebral blood flow measurements, and cerebrovascular risk factors. Stroke, 19, 1285–1288.
   PubMed Web of Science ®Google Scholar
• Feder J. N., A. Gnirke, W. Thomas, Z. Tsuchihashi, D. A. Ruddy, A. Basava, F. Dormishian, Domingo R., Jr., M. C. Ellis, A. Fullan, L. M. Hinton, N. L. Jones, B. E. Kimmel, G. S. Kronmal, P. Lauer, V. K. Lee, D. B. Loeb, F. A. Mapa, E. McClelland, N. C. Meyer, G. A. Mintier, N. Moeller, T. Moore, E. Morikang, C. E. Prass, L. Quintana, S. M. Starnes, R. C. Schatzman, K. J. Brunke, D. T. Drayna, N. J. Risch, B. R. Bacon, R. K. Wolff (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet, 13, 399–408.
   PubMed Web of Science ®Google Scholar
• Fernando M. S., J. T. O'Brien, R. H. Perry, P. English, G. Forster, W. McMeekin, J. Y. Slade, A. Golkhar, F. E. Matthews, R. Barber, R. N. Kalaria, P. G. Ince (2004). Comparison of the pathology of cerebral white matter with post-mortem magnetic resonance imaging (MRI) in the elderly brain. Neuropathol Appl Neurobiol, 30, 385–395.
   PubMed Web of Science ®Google Scholar
• Fernando M. S., J. E. Simpson, F. Matthews, C. Brayne, C. E. Lewis, R. Barber, R. N. Kalaria, G. Forster, F. Esteves, S. B. Wharton, P. J. Shaw, J. T. O'Brien, P. G. Ince (2006). White matter lesions in an unselected cohort of the elderly: Molecular pathology suggests origin from chronic hypoperfusion injury. Stroke, 37, 1391–1398.
   PubMed Web of Science ®Google Scholar
• Goodall E. F., M. J. Greenway, I. van Marion, C. B. Carroll, O. Hardiman, K. E. Morrison (2005). Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS. Neurology, 65, 934–937.
   PubMed Web of Science ®Google Scholar
• Halliwell B. (2006). Oxidative stress and neurodegeneration: Where are we now? J Neurochem, 97, 1634–1658.
   PubMed Web of Science ®Google Scholar
• Hanson E. H., G. Imperatore, W. Burke (2001). HFE gene and hereditary hemochromatosis: A HuGE review. Human Genome Epidemiology. Am J Epidemiol, 154, 193–206.
   PubMed Web of Science ®Google Scholar
• Harrap S. B., H. R. Davidson, J. M. Connor, F. Soubrier, P. Corvol, R. Fraser, C. J. Foy, G. C. Watt (1993). The angiotensin I converting enzyme gene and predisposition to high blood pressure. Hypertension, 21, 455–460.
   PubMed Web of Science ®Google Scholar
• Hedden T., J. D. Gabrieli (2004). Insights into the ageing mind: A view from cognitive neuroscience. Nat Rev Neurosci, 5, 87–96.
   PubMed Web of Science ®Google Scholar
• Henskens L. H., A. A. Kroon, M. P. van Boxtel, P. A. Hofman, P. W. de Leeuw (2005). Associations of the angiotensin II type 1 receptor A1166C and the endothelial NO synthase G894T gene polymorphisms with silent subcortical white matter lesions in essential hypertension. Stroke, 36, 1869–1873.
   PubMed Web of Science ®Google Scholar
• Koch A. E., S. L. Kunkel, W. H. Pearce, M. R. Shah, D. Parikh, H. L. Evanoff, G. K. Haines, M. D. Burdick, R. M. Strieter (1993). Enhanced production of the chemotactic cytokines interleukin-8 and monocyte chemoattractant protein-1 in human abdominal aortic aneurysms. Am J Pathol, 142, 1423–1431.
   PubMed Web of Science ®Google Scholar
• Lapierre A. V., M. E. Arce, J. R. Lopez, G. M. Ciuffo (2006). Angiotensin II type 1 receptor A1166C gene polymorphism and essential hypertension in San Luis. Biocell, 30, 447–455.
   PubMed Web of Science ®Google Scholar
• Lawless M. W., M. White, A. K. Mankan, M. J. O'Dwyer, S. Norris (2007). Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis. Tissue Antigens, 70, 294–300.
   PubMedGoogle Scholar
• Luthra K., K. Prasad, P. Kumar, M. Dwivedi, R. M. Pandey, N. Das (2002). Apolipoprotein E gene polymorphism in cerebrovascular disease: A case-control study. Clin Genet, 62, 39–44.
   PubMed Web of Science ®Google Scholar
• Mahley R. W., K. H. Weisgraber, Y. Huang (2006). Apolipoprotein E4: A causative factor and therapeutic target in neuropathology, including Alzheimer's disease. Proc Natl Acad Sci U S A, 103, 5644–5651.
   PubMed Web of Science ®Google Scholar
• Mitchell R. M., S. Y. Lee, Z. Simmons, J. R. Connor (2009). HFE polymorphisms affect cellular glutamate regulation. Neurobiol Aging, doi:10.1016/j.neurobiolaging. 2009.05.016.
   Web of Science ®Google Scholar
• Moalem S., M. E. Percy, D. F. Andrews, T. P. Kruck, S. Wong, A. J. Dalton, P. Mehta, B. Fedor, A. C. Warren (2000). Erratum: Are hereditary hemochromatosis mutations involved in Alzheimer disease? Am J Med Genet, 95, 189.
   PubMed Web of Science ®Google Scholar
• Nalogowska-Glosnicka K., B. I. Lacka, M. J. Zychma, W. Grzeszczak, E. Zukowska-Szczechowska, R. Poreba, B. Michalski, B. Kniazewski, J. Rzempoluch (2000). Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension. Med Sci Monit, 6, 523–529.
   PubMedGoogle Scholar
• Okuizumi K., O. Onodera, H. Tanaka, H. Kobayashi, S. Tsuji, H. Takahashi, K. Oyanagi, K. Seki, M. Tanaka, S. Naruse, T. Miyatake, H. Mizusawa, I. Kanazawa (1994). ApoE-epsilon 4 and early-onset Alzheimer's. Nat Genet, 7, 10–11.
   PubMed Web of Science ®Google Scholar
• Ong W. Y., A. A. Farooqui (2005). Iron, neuroinflammation, and Alzheimer's disease. J Alzheimers Dis, 8, 183–200; discussion, 209–215.
   PubMed Web of Science ®Google Scholar
• Palatini P., G. Ceolotto, F. Dorigatti, L. Mos, M. Santonastaso, P. Bratti, I. Papparella, A. C. Pessina, A. Semplicini (2009). Angiotensin II type 1 receptor gene polymorphism predicts development of hypertension and metabolic syndrome. Am J Hypertens, 22, 208–214.
   PubMed Web of Science ®Google Scholar
• Percy M., S. Moalem, A. Garcia, M. J. Somerville, M. Hicks, D. Andrews, A. Azad, P. Schwarz, R. B. Zavareh, R. Birkan, C. Choo, V. Chow, S. Dhaliwal, V. Duda, A. L. Kupferschmidt, K. Lam, D. Lightman, K. Machalek, W. Mar, F. Nguyen, P. J. Rytwinski, E. Svara, M. Tran, L. Yeung, K. Zanibbi, R. Zener, M. Ziraldo, M. Freedman (2008). Involvement of ApoE E4 and H63D in sporadic Alzheimer's disease in a folate-supplemented Ontario population. J Alzheimers Dis, 14, 69–84.
   PubMed Web of Science ®Google Scholar
• Plummer S., C. Tower, P. Alonso, L. Morgan, P. Baker, F. Broughton-Pipkin, N. Kalsheker (2004). Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia. Hum Mutat, 24, 14–20.
   PubMed Web of Science ®Google Scholar
• Pulliam J. F., C. D. Jennings, R. J. Kryscio, D. G. Davis, D. Wilson, T. J. Montine, F. A. Schmitt, W. R. Markesbery (2003). Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE. Am J Med Genet B Neuropsychiatr Genet, 119, 48–53.
   Google Scholar
• Qian Z., Q. Wang, Y. Pu (1997). Brain iron and neurological disorders. Chin Med J (Engl), 110, 455–458.
   PubMed Web of Science ®Google Scholar
• Qian Z. M., X. Shen (2001). Brain iron transport and neurodegeneration. Trends Mol Med, 7, 103–108.
   PubMed Web of Science ®Google Scholar
• Qian Z. M., Q. Wang (1998). Expression of iron transport proteins and excessive iron accumulation in the brain in neurodegenerative disorders. Brain Res Brain Res Rev, 27, 257–267.
   PubMedGoogle Scholar
• Quintana C., S. Bellefqih, J. Y. Laval, J. L. Guerquin-Kern, T. D. Wu, J. Avila, I. Ferrer, R. Arranz, C. Patino (2006). Study of the localization of iron, ferritin, and hemosiderin in Alzheimer's disease hippocampus by analytical microscopy at the subcellular level. J Struct Biol, 153, 42–54.
   PubMed Web of Science ®Google Scholar
• Scheltens P., F. Barkhof, D. Leys, E. C. Wolters, R. Ravid, W. Kamphorst (1995). Histopathologic correlates of white matter changes on MRI in Alzheimer's disease and normal aging. Neurology, 45, 883–888.
   PubMed Web of Science ®Google Scholar
• Shamoto-Nagai M., W. Maruyama, H. Yi, Y. Akao, F. Tribl, M. Gerlach, T. Osawa, P. Riederer, M. Naoi (2006). Neuromelanin induces oxidative stress in mitochondria through release of iron: Mechanism behind the inhibition of 26S proteasome. J Neural Transm, 113, 633–644.
   PubMed Web of Science ®Google Scholar
• Skultetyova D., S. Filipova, I. Riecansky, J. Skultety (2007). The role of angiotensin type 1 receptor in inflammation and endothelial dysfunction. Recent Patents Cardiovasc Drug Discov, 2, 23–27.
   PubMedGoogle Scholar
• Smith C. D., D. A. Snowdon, H. Wang, W. R. Markesbery (2000). White matter volumes and periventricular white matter hyperintensities in aging and dementia. Neurology, 54, 838–842.
   PubMed Web of Science ®Google Scholar
• Sookoian S., G. Castano, S. I. Garcia, P. Viudez, C. Gonzalez, C. J. Pirola (2005). A1166C angiotensin II type 1 receptor gene polymorphism may predict hemodynamic response to losartan in patients with cirrhosis and portal hypertension. Am J Gastroenterol, 100, 636–642.
   PubMed Web of Science ®Google Scholar
• Sutedja N. A., R. J. Sinke, P. W. Van Vught, M. W. Van der Linden, J. H. Wokke, C. M. Van Duijn, O. T. Njajou, Y. T. Van der Schouw, J. H. Veldink, L. H. Van den Berg (2007). The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population. Arch Neurol, 64, 63–67.
   PubMedGoogle Scholar
• Tiret L., B. Rigat, S. Visvikis, C. Breda, P. Corvol, F. Cambien, F. Soubrier (1992). Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels. Am J Hum Genet, 51, 197–205.
   PubMed Web of Science ®Google Scholar
• Waheed A., S. Parkkila, X. Y. Zhou, S. Tomatsu, Z. Tsuchihashi, J. N. Feder, R. C. Schatzman, R. S. Britton, B. R. Bacon, W. S. Sly (1997). Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci U S A, 94, 12384–12389.
   PubMed Web of Science ®Google Scholar
• Wyss-Coray T., J. D. Loike, T. C. Brionne, E. Lu, R. Anankov, F. Yan, S. C. Silverstein, J. Husemann (2003). Adult mouse astrocytes degrade amyloid-beta in vitro and in situ. Nat Med, 9, 453–457.
   PubMed Web of Science ®Google Scholar
• Xia M. Q., B. T. Hyman (1999). Chemokines/chemokine receptors in the central nervous system and Alzheimer's disease. J NeuroVirol, 5, 32–41.
   PubMed Web of Science ®Google Scholar
• Yen A. A., E. P. Simpson, J. S. Henkel, D. R. Beers, S. H. Appel (2004). HFE mutations are not strongly associated with sporadic ALS. Neurology, 62, 1611–1612.
   PubMed Web of Science ®Google Scholar