Polymorphism -116C/G of human X-box-binding protein 1 promoter is associated with risk of alzheimer's disease

CNS Neuroscience and Therapeutics

Volumn 19, Issue 4, 2013, Pages 229-234

  Liu, Sheng Yuan ^a,b   Wang, Wei ^c   Cai, Zhi You ^a   Yao, Li Fen ^d   Chen, Zhong Wei ^b   Wang, Chang Yi ^b   Zhao, Bin ^a   Li, Ke Shen ^a  

^a GUANGDONG MEDICAL UNIVERSITY   (China)

^b Shenzhen Nanshan Center for Chronic Disease Control   (China)

^c First Hospital of Harbin   (China)

^d THE FIRST AFFILIATED HOSPITAL OF HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

Alzheimer's disease; Endoplasmic reticulum; Polymorphism; Stress response; XBP1

Indexed keywords

X BOX BINDING PROTEIN 1;

AGED; ALZHEIMER DISEASE; ARTICLE; CHINESE; COGNITIVE DEFECT; CONTROLLED STUDY; DETERIORATION; ETHNICITY; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POPULATION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; CASE-CONTROL STUDIES; DNA-BINDING PROTEINS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 84875632050     PISSN: 17555930     EISSN: 17555949     Source Type: Journal    
DOI: 10.1111/cns.12064     Document Type: Article

References (42)

1. Costa RO, Ferreiro E, Martins I, et al. Amyloid β-induced ER stress is enhanced under mitochondrial dysfunction conditions. Neurobiol Aging 2012; 33:824.e5-824.e16.
2. LaFerla FM, Green KN, Oddo S. Intracellular amyloid-β in Alzheimer's disease. Nat Rev Neurosci 2007;8:499-508.
3. Castillo-Carranza DL, Zhang Y, Guerrero-Muñoz MJ, Kayed R, Rincon-Limas DE, Fernandez-Funez P. Differential activation of the ER stress factor XBP1 by oligomeric assemblies. Neurochem Res 2012;37:1707-1717.
4. Hoozemans JJ, van Haastert ES, Nijholt DA, Rozemuller AJ, Eikelenboom P, Scheper W. The unfolded protein response is activated in Alzheimer's disease. Acta Neuropathol (Berl) 2005;110:165-172.
5. Unterberger U, Hoftberger R, Gelpi E, Flicker H, Budka H, Voigtlander T. Endoplasmic reticulum stress features are prominent in Alzheimer disease but not in prion diseases in vivo. J Neuropathol Exp Neurol 2006;65:348-357.
6. Lee DY, Lee KS, Lee HJ, et al. Activation of PERK signaling attenuates Aβ-mediated ER stress. PLoS ONE 2010;5:e10489.
7. Loewen CA, Feany MB. The unfolded protein response protects from tau neurotoxicity in vivo. PLoS ONE 2010;5:e13084.
8. Casas-Tinto S, Zhang Y, Sanchez-Garcia J, Gomez-Velazquez M, Rincon-Limas DE, Fernandez-Funez P. The ER stress factor XBP1s prevents amyloid-beta neurotoxicity. Hum Mol Genet 2011;20:2144-2160.
9. Acosta-Alvear D, Zhou Y, Blais A, et al. XBP1 controls diverse cell type- and condition-specific transcriptional regulatory networks. Mol Cell 2007;27:53-66.
10. Liou HC, Boothby MR, Finn PW, et al. A new member of the leucine zipper class of proteins that binds to the HLA DR alpha promoter. Science 1990;247:1581-1584.
11. Kakiuchi C, Iwamoto K, Ishiwata M, et al. Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. Nat Genet 2003;35:171-175.
12. Ren Y, Yang S, Xu S, et al. Genetic variation of promoter sequence modulates XBP1 expression and genetic risk for vitiligo. PLoS Genet 2009;5:e1000523.
13. Chen W, Duan S, Zhou J, et al. A case-control study provides evidence of association for a functional polymorphism -197C/G in XBP1 to schizophrenia and suggests a sex-dependent effect. Biochem Biophys Res Commun 2004;319:866-870.
14. Masui T, Hashimoto R, Kusumi I, et al. A possible association between the -116C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder. Int J Neuropsychopharmacol 2006;9:83-88.
15. Dubois B. Research criteria for the diagnosis of Alzheimer's disease: Revising the NINCDS-ADRDA criteria. Lancet Neurol 2007;6:734-746.
16. Doody RS, Massman P, Dunn JK. A method for estimating progression rates in Alzheimer disease. Arch Neurol 2001;58:449-454.
17. Kakiuchi C, Ishiwata M, Umekage T, et al. Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population. Psychiatry Clin Neurosci 2004;58:438-440.
18. Leoni V. The effect of apolipoprotein E (ApoE) genotype on biomarkers of amyloidogenesis, tau pathology and neurodegeneration in Alzheimer's disease. Clin Chem Lab Med 2011;49:375-383.
19. Selkoe DJ. Alzheimer's disease: Genes, proteins, and therapy. Physiol Rev 2001;81:741-766.
20. Hoozemans JJ, van Haastert ES, Nijholt DA, Rozemuller AJ, Eikelenboom P, Scheper W. The unfolded protein response is activated in pretangle neurons in Alzheimer's disease hippocampus. Am J Pathol 2009;174:1241-1251.
21. Lee JH, Won SM, Suh J, et al. Induction of the unfolded protein response and cell death pathway in Alzheimer's disease, but not in aged Tg2576 mice. Exp Mol Med 2010;42:386-394.
22. Sengupta S, Sharma CG, Jordan VC. Estrogen regulation of X-box binding protein-1 and its role in estrogen induced growth of breast and endometrial cancer cells. Horm Mol Biol Clin Investig 2010;2:235-243.
23. Carroll JS, Liu XS, Brodsky AS, et al. Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1. Cell 2005;122:33-43.
24. Paganini-Hill A, Henderson VW. Estrogen deficiency and risk of Alzheimer's disease in women. Am J Epidemiol 1994;140:256-261.
25. Braak H, Braak E. Staging of Alzheimer's disease-related neurofibrillary changes. Neurobiol Aging 1995;16:271-278.
26. Ahlbom E, Prins GS, Ceccatelli S. Testosterone protects cerebellar granule cells from oxidative stress-induced cell death through a receptor mediated mechanism. Brain Res 2001;892:255-262.
27. Hammond J, Le Q, Goodyer C, Gelfand M, Trifiro M, LeBlanc A. Testosterone mediated neuroprotection through the androgen receptor in human primary neurons. J Neurochem 2001;77:1319-1326.
28. Papasozomenos S, Shanavas A. Testosterone prevents the heat shock-induced overactivation of glycogen synthase kinase-3 beta but not of cyclin-dependent kinase 5 and c-Jun NH2-terminal kinase and concomitantly abolishes hyperphosphorylation of tau: Implications for Alzheimer's disease. Proc Natl Acad Sci USA 2002;99:1140-1145.
29. McAllister C, Long J, Bowers A, et al. Genetic targeting aromatase in male amyloid precursor protein transgenic mice down-regulates beta-secretase (BACE1) and prevents Alzheimer-like pathology and cognitive impairment. J Neurosci 2010;30:7326-7334.
30. Li K, Dai D, Zhao B, et al. Association between the RAGE G82S polymorphism and Alzheimer's disease. J Neural Transm 2010;117:97-104.
31. Lin KP, Chen SY, Lai LC, et al. Genetic polymorphisms of a novel vascular susceptibility gene, Ninjurin2 (NINJ2), are associated with a decreased risk of Alzheimer's disease. PLoS ONE 2011;6:e20573.
32. Cellini E, Tedde A, Bagnoli S, et al. Implication of sex and SORL1 variants in italian patients with Alzheimer disease. Arch Neurol 2009;66:1260-1266.
33. Zhong N, Ramaswamy G, Weisgraber KH. Apolipoprotein E4 domain interaction induces endoplasmic reticulum stress and impairs astrocyte function. J Biol Chem 2009;284:27273-27280.
34. Watanabe Y, Fukui N, Muratake T, et al. Association study of a functional promoter polymorphism of the X-box binding protein 1 gene in Japanese patients with schizophrenia. Psychiatry Clin Neurosci 2006;60:633-635.
35. Kakiuchi C, Kato T. Lithium response and -116C/G polymorphism of XBP1 in Japanese patients with bipolar disorder. Int J Neuropsychopharmacol 2005;8:631-632.
36. Kato C, Kakiuchi C, Umekage T, et al. XBP1 gene polymorphism (-116C/G) and personality. Am J Med Genet B Neuropsychiatr Genet 2005;136B:103-105.
37. Morita Y, Ujike H, Tanaka Y, et al. The X-box binding protein 1 (XBP1) gene is not associated with methamphetamine dependence. Neurosci Lett 2005;383:194-198.
38. Kim B, Kim CY, Lee MJ, Joo YH. Preliminary evidence on the association between XBP1 -116C/G polymorphism and response to prophylactic treatment with valproate in bipolar disorders. Psychiatry Res 2009;168:209-212.
39. Hou SJ, Yen FC, Cheng CY, Tsai SJ, Hong CJ. X-box binding protein 1 (XBP1) C→116G polymorphisms in bipolar disorders and age of onset. Neurosci Lett 2004;367:232-234.
40. Yilmaz E, Akar R, Eker ST, Deda G, Adiguzel Y, Akar N. Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and atherosclerosis, ischemic stroke and hyperhomocysteinemia. Mol Biol Rep 2010;37:269-272.
41. Yilmaz E, Berberoglu M, Akar N. Relationship between functional promoter polymorphism in the XBP1 gene (-116C/G) and obesity. Clin Appl Thromb Hemost 2010;16:99-102.
42. Jönsson EG, Cichon S, Schumacher J, et al. Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2006;141B:71-75.