Shiraz E-Medical Journal

Published by: Kowsar

Polymorphism of CYP46A1 Gene and Alzheimer’s Disease in the Iranian Population

Rohollah Mousavidehmordi 1 , Hossain Babaahmadi 1 , Bita Shalbafan 2 , Ghorban Mohammadzadeh 1 , Mohammadreza Afsharmanesh 1 and Alireza Kheirollah 1 , *
Authors Information
1 Department of Biochemistry, Medical School, Cellular & Molecular Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran
2 Department of Neurology, Medical School, Jundishapur University of Medical Sciences, Ahvaz, IR Iran
Article information
  • Shiraz E-Medical Journal: September 30, 2016, 17 (9); e59932
  • Published Online: September 21, 2016
  • Article Type: Research Article
  • Received: August 2, 2016
  • Revised: September 8, 2016
  • Accepted: September 17, 2016
  • DOI: 10.17795/semj41218

To Cite: Mousavidehmordi R, Babaahmadi H, Shalbafan B, Mohammadzadeh G, Afsharmanesh M, et al. Polymorphism of CYP46A1 Gene and Alzheimer’s Disease in the Iranian Population, Shiraz E-Med J. 2016 ;17(9):e59932. doi: 10.17795/semj41218.

Abstract
Copyright © 2016, Shiraz University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Objectives
3. Methods
4. Results
5. Discussion
Footnote
References
  • 1. Buee L, Bussiere T, Buee-Scherrer V, Delacourte A, Hof PR. Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev. 2000; 33(1): 95-130[PubMed]
  • 2. Gendron TF, Petrucelli L. The role of tau in neurodegeneration. Mol Neurodegener. 2009; 4: 13[DOI][PubMed]
  • 3. Kirsch C, Eckert GP, Koudinov AR, Muller WE. Brain cholesterol, statins and Alzheimer's Disease. Pharmacopsychiatry. 2003; 36 Suppl 2-9[DOI][PubMed]
  • 4. Ma SL, Tang NL, Lam LC, Chiu HF. Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population. Int Psychogeriatr. 2006; 18(1): 37-45[DOI][PubMed]
  • 5. Tedde A, Rotondi M, Cellini E, Bagnoli S, Muratore L, Nacmias B. Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease. Neurobiol Aging. 2006; 27(5): 1-3
  • 6. Kolsch H, Lutjohann D, von Bergmann K, Heun R. The role of 24S-hydroxycholesterol in Alzheimer's disease. J Nutr Health Aging. 2003; 7(1): 37-41[PubMed]
  • 7. Kolsch H, Lutjohann D, Tulke A. the neurotoxic effect of 24-hydroxycholesterol on SH-SY5Y human neuroblastoma cells. Brain Res. 1999; 818(1): 171-5[DOI]
  • 8. Bjorkhem I, Lutjohann D, Diczfalusy U, Stahle L, Ahlborg G, Wahren J. Cholesterol homeostasis in human brain: turnover of 24S-hydroxycholesterol and evidence for a cerebral origin of most of this oxysterol in the circulation. J Lipid Res. 1998; 39(8): 1594-600[PubMed]
  • 9. Lund EG, Guileyardo JM, Russell DW. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A. 1999; 96(13): 7238-43[PubMed]
  • 10. Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999; 65(3): 664-70[DOI][PubMed]
  • 11. Huang Y, Weisgraber KH, Mucke L, Mahley RW. Apolipoprotein E: diversity of cellular origins, structural and biophysical properties, and effects in Alzheimer's disease. J Mol Neurosci. 2004; 23(3): 189-204[DOI][PubMed]
  • 12. Bertram L. Alzheimer's disease genetics current status and future perspectives. Int Rev Neurobiol. 2009; 84: 167-84[DOI][PubMed]
  • 13. Wolozin B. Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease. Arch Neurol. 2003; 60(1): 16-8[PubMed]
  • 14. Papassotiropoulos A, Streffer JR, Tsolaki M, Schmid S, Thal D, Nicosia F, et al. Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. Arch Neurol. 2003; 60(1): 29-35[PubMed]
  • 15. Wang B, Zhang C, Zheng W, Lu Z, Zheng C, Yang Z, et al. Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese. Neurosci Lett. 2004; 369(2): 104-7[DOI][PubMed]
  • 16. Fernandez Del Pozo V, Alvarez Alvarez M, Fernandez Martinez M, Galdos Alcelay L, Gomez Busto F, Pena JA, et al. Polymorphism in the cholesterol 24S-hydroxylase gene (CYP46A1) associated with the APOEpsilon3 allele increases the risk of Alzheimer's disease and of mild cognitive impairment progressing to Alzheimer's disease. Dement Geriatr Cogn Disord. 2006; 21(2): 81-7[DOI][PubMed]
  • 17. He XM, Zhang ZX, Zhang JW, Zhou YT, Wu CB, Tang MN, et al. An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population. J Mol Neurosci. 2012; 47(3): 514-8[DOI][PubMed]
  • 18. Kolsch H, Lutjohann D, Ludwig M, Schulte A, Ptok U, Jessen F, et al. Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease. Mol Psychiatry. 2002; 7(8): 899-902[DOI][PubMed]
  • 19. Combarros O, Infante J, Llorca J, Berciano J. Genetic association of CYP46 and risk for Alzheimer's disease. Dement Geriatr Cogn Disord. 2004; 18(3-4): 257-60[DOI][PubMed]
  • 20. Helisalmi S, Vepsalainen S, Koivisto AM, Mannermaa A, Iivonen S, Hiltunen M, et al. Association of CYP46 intron 2 polymorphism in Finnish Alzheimer's disease samples and a global scale summary. J Neurol Neurosurg Psychiatry. 2006; 77(3): 421-2[DOI][PubMed]
  • 21. Juhasz A, Rimanoczy A, Boda K, Vincze G, Szlavik G, Zana M, et al. CYP46 T/C polymorphism is not associated with Alzheimer's dementia in a population from Hungary. Neurochem Res. 2005; 30(8): 943-8[DOI][PubMed]
  • 22. Kolsch H, Lutjohann D, Jessen F, Popp J, Hentschel F, Kelemen P, et al. CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism. Eur Psychiatry. 2009; 24(3): 183-90[DOI][PubMed]
  • 23. Li L, Yin Z, Liu J, Li G, Wang Y, Yang J. CYP46A1 T/C polymorphism associated with the APOEε4 allele increases the risk of Alzheimer's disease. J Neurol, Neurosurg Psychiatr. 2013; 260(7): 1701-8[DOI]
  • 24. Hanggi J, Mondadori CR, Buchmann A, Henke K, Hock C. A CYP46 T/C SNP modulates parahippocampal and hippocampal morphology in young subjects. Neurobiol Aging. 2011; 32(6): 1023-32[DOI][PubMed]
  • 25. Borroni B, Archetti S, Agosti C, Akkawi N, Brambilla C, Caimi L, et al. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. Neurobiol Aging. 2004; 25(6): 747-51[DOI][PubMed]
  • 26. Golanska E, Hulas-Bigoszewska K, Wojcik I, Rieske P, Styczynska M, Peplonska B, et al. CYP46: a risk factor for Alzheimer's disease or a coincidence? Neurosci Lett. 2005; 383(1-2): 105-8[DOI][PubMed]
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