HFE H63D, C282Y and AGTR1 A1166C polymorphisms and brain white matter lesions in the aging brain

Journal of Neurogenetics

Volumn 25, Issue 1-2, 2011, Pages 7-14

  Gebril, Ola H ^a,b   Kirby, Janine ^b   Savva, George ^c,d   Brayne, Carol ^c   Ince, Paul G ^b  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d MRC BIOSTATISTICS UNIT   (United Kingdom)

Author keywords

aging; AGTR1; APOE 4; HFE; reactive oxygen species (ROS); white matter lesions (WML)

Indexed keywords

ANGIOTENSIN RECEPTOR; APOLIPOPROTEIN E4; HFE PROTEIN; REACTIVE OXYGEN METABOLITE;

AGING; ARTICLE; BRAIN DAMAGE; DISEASE SEVERITY; DNA POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; HUMAN TISSUE; HYPOXIA; OXIDATIVE STRESS; PRIORITY JOURNAL; WHITE MATTER;

AGED; AGED, 80 AND OVER; AGING; AMINO ACIDS; BRAIN; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, ANGIOTENSIN, TYPE 1; RISK FACTORS;

EID: 79956012367     PISSN: 01677063     EISSN: 15635260     Source Type: Journal    
DOI: 10.3109/01677063.2011.556206     Document Type: Article

References (60)

1. Andrews, N. C. (1999). Disorders of iron metabolism. N Engl J Med, 341, 1986-1995. (Pubitemid 30010408)
2. 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. (Pubitemid 26289224)
3. 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. (Pubitemid 30038514)
4. 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.
5. 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. (Pubitemid 38317344)
6. 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.
7. 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. (Pubitemid 27122302)
8. 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. (Pubitemid 24195405)
9. Bookheimer, S., & A. Burggren (2009). APOE-4 genotype and neurophysiological vulnerability to Alzheimer's and cognitive aging. Annu Rev Clin Psychol, 5, 343-362.
10. 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. (Pubitemid 34722415)
11. 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. (Pubitemid 351294029)
12. Connor, J. R., & S. Y. Lee (2006). HFE mutations and Alzheimer's disease. J Alzheimers Dis, 10, 267-276. (Pubitemid 44763997)
13. 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.
14. 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. (Pubitemid 32096113)
15. 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. (Pubitemid 38543516)
16. Egashira, K. (2003). Molecular mechanisms mediating infl ammation in vascular disease: Special reference to mono cyte chemoattractant protein-1. Hypertension, 41(3 Pt 2), 834-41. (Pubitemid 36314600)
17. Enns, C. A. (2006). Possible roles of the hereditary hemochromatosis protein, HFE, in regulating cellular iron homeostasis. Biol Res, 39, 105-111. (Pubitemid 44027652)
18. 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. (Pubitemid 46860364)
19. 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]
20. Fasano, M., B. Bergamasco, & L. Lopiano (2006). Modifications of the iron-neuromelanin system in Parkinson's disease. J Neurochem, 96, 909-916.
21. 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. (Pubitemid 23307935)
22. 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.
23. 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. (Pubitemid 26256612)
24. 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. (Pubitemid 39120300)
25. 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. (Pubitemid 44305715)
26. 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. (Pubitemid 41362146)
27. Halliwell, B. (2006). Oxidative stress and neurodegeneration: Where are we now? J Neurochem, 97, 1634-1658. (Pubitemid 43873658)
28. 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. (Pubitemid 32701154)
29. 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. (Pubitemid 23095158)
30. Hedden, T., & J. D. Gabrieli (2004). Insights into the ageing mind: A view from cognitive neuroscience. Nat Rev Neurosci, 5, 87-96. (Pubitemid 38160284)
31. 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. (Pubitemid 41266516)
32. 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. (Pubitemid 24058129)
33. 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. (Pubitemid 46119419)
34. 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. (Pubitemid 47340724)
35. 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. (Pubitemid 36372695)
36. 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.
37. 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 .
38. 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.
39. 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. (Pubitemid 30432139)
40. 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). ApoEepsilon 4 and early-onset Alzheimer's. Nat Genet, 7, 10-11.
41. Ong, W. Y., & A. A. Farooqui (2005). Iron, neuroinfl ammation, and Alzheimer's disease. J Alzheimers Dis, 8, 183- 200; discussion, 209-215. (Pubitemid 43227164)
42. 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.
43. 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. (Pubitemid 352039019)
44. 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. (Pubitemid 38859220)
45. 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. (Pubitemid 37064053)
46. Qian, Z., Q. Wang, & Y. Pu (1997). Brain iron and neurological disorders. Chin Med J (Engl), 110, 455-458.
47. Qian, Z. M., & X. Shen (2001). Brain iron transport and neurodegeneration. Trends Mol Med, 7, 103-108. (Pubitemid 32201671)
48. 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. (Pubitemid 28389311)
49. 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. (Pubitemid 43038614)
50. 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.
51. 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. (Pubitemid 43673603)
52. Skultetyova, D., S. Filipova, I. Riecansky, & J. Skultety (2007). The role of angiotensin type 1 receptor in infl ammation and endothelial dysfunction. Recent Patents Cardiovasc Drug Discov, 2, 23-27. (Pubitemid 46813412)
53. 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. (Pubitemid 30111339)
54. 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. (Pubitemid 40487564)
55. 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. (Pubitemid 46072425)
56. 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.
57. 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.
58. 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. (Pubitemid 36460080)
59. Xia, M. Q., & B. T. Hyman (1999). Chemokines/chemokine receptors in the central nervous system and Alzheimer's disease. J NeuroVirol, 5, 32-41. (Pubitemid 29051876)
60. 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. (Pubitemid 38608207)