Vitamin D receptor and Alzheimer's disease: A genetic and functional study

Neurobiology of Aging

Volumn 33, Issue 8, 2012, Pages 1844.e1-1844.e9

  Wang, Liyong ^a   Hara, Kenju ^a,c   Van Baaren, Jessica M ^a   Price, Justin C ^a   Beecham, Gary W ^a   Gallins, Paul J ^a   Whitehead, Patrice L ^a   Wang, Gaofeng ^a   Lu, Chunrong ^a   Slifer, Michael A ^a   Züchner, Stephan ^a   Martin, Eden R ^a   Mash, Deborah ^a   Haines, Jonathan L ^b   Pericak Vance, Margaret A ^a   Gilbert, John R ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c AKITA RED CROSS HOSPITAL   (Japan)

Author keywords

Alzheimer's disease; Amyloid precursor protein; Association; Cdx 2; Functional polymorphism; Vitamin D receptor

Indexed keywords

AMYLOID PRECURSOR PROTEIN; TRANSCRIPTION FACTOR CDX2; VITAMIN D RECEPTOR; CALCITRIOL RECEPTOR; CDX 2 3 PROTEIN; CDX-2-3 PROTEIN; HOMEODOMAIN PROTEIN; TRANSACTIVATOR PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; BINDING SITE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC RISK; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NEUROBLASTOMA CELL; ONSET AGE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN D RECEPTOR GENE; COMORBIDITY; GENETIC PREDISPOSITION; GENETICS; PREVALENCE; RISK ASSESSMENT; UNITED STATES; VITAMIN D DEFICIENCY;

AGED; ALZHEIMER DISEASE; COMORBIDITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; PREVALENCE; RECEPTORS, CALCITRIOL; RISK ASSESSMENT; TRANS-ACTIVATORS; UNITED STATES; VITAMIN D DEFICIENCY;

EID: 84862805905     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.12.038     Document Type: Article

References (47)

1. Aloia J.F., Chen D.G., Chen H. The 25(OH)D/PTH threshold in black women. J. Clin. Endocrinol. Metab 2010, 95:5069-5073.
2. Annweiler C., Schott A.M., Allali G., Bridenbaugh S.A., Kressig R.W., Allain P., Herrmann F.R., Beauchet O. Association of vitamin D deficiency with cognitive impairment in older women, Cross-sectional study. Neurology 2010, 74:27-32.
3. Arai H., Miyamoto K.I., Yoshida M., Yamamoto H., Taketani Y., Morita K., Kubota M., Yoshida S., Ikeda M., Watabe F., Kanemasa Y., Takeda E. The polymorphism in the caudal-related homeodomain protein cdx-2 binding element in the human vitamin D receptor gene. J. Bone Miner. Res 2001, 16:1256-1264.
4. Armitage P. Test for linear trends in proportions and frequencies. Biometrics 1955, 11:375-386.
5. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
6. Beecham G.W., Martin E.R., Li Y.J., Slifer M.A., Gilbert J.R., Haines J.L., Pericak-Vance M.A. Genome-wide association study implicates a chromosome 12 risk locus for late-onset alzheimer disease. Am. J. Hum. Genet 2009, 84:35-43.
7. Bryant R.J., Wastney M.E., Martin B.R., Wood O., McCabe G.P., Morshidi M., Smith D.L., Peacock M., Weaver C.M. Racial differences in bone turnover and calcium metabolism in adolescent females. J. Clin. Endocrinol. Metab 2003, 88:1043-1047.
8. Buell J.S., Dawson-Hughes B., Scott T.M., Weiner D.E., Dallal G.E., Qui W.Q., Bergethon P., Rosenberg I.H., Folstein M.F., Patz S., Bhadelia R.A., Tucker K.L. 25-hydroxyvitamin D, dementia, and cerebrovascular pathology in elders receiving home services. Neurology 2010, 74:18-26.
9. Chartier-Harlin M.C., Crawford F., Houlden H., Warren A., Hughes D., Fidani L., Goate A., Rossor M., Roques P., Hardy J., et al. Early-onset alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991, 353:844-846.
10. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., Roses A.D., Haines J.L., Pericak-Vance M.A. Gene dose of apolipoprotein E type 4 allele and the risk of alzheimer's disease in late onset families. Science 1993, 261:921-923.
11. Daw E.W., Payami H., Nemens E.J., Nochlin D., Bird T.D., Schellenberg G.D., Wijsman E.M. The number of trait loci in late-onset alzheimer disease. Am. J. Hum. Genet 2000, 66:196-204.
12. De La Vega F.M. Selecting single-nucleotide polymorphisms for association studies with SNPbrowser software. Methods Mol. Biol 2007, 376:177-193.
13. Eyles D.W., Smith S., Kinobe R., Hewison M., McGrath J.J. Distribution of the vitamin D receptor and 1 alpha-hydroxylase in human brain. J. Chem. Neuroanat 2005, 29:21-30.
14. Farrer L.A., Cupples L.A., Haines J., Hyman B., Kukull W., Mayeux R., Myers R.H., Pericak-Vance M.A., Risch N., van Duijn V. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 1997, 278:1349-1356.
15. Garcion E., Wion-Barbot N., Montero-Menei C.N., Berger F., Wion D. New clues about vitamin D functions in the nervous system. Trends Endocrinol. Metab 2002, 13:100-105.
16. Gezen-Ak D., Dursun E., Ertan T., Hanaǧasi H., Gürvit H., Emre M., Eker E., Oztürk M., Engin F., Yilmazer S. Association between vitamin D receptor gene polymorphism and alzheimer's disease. Tohoku J. Exp. Med 2007, 212:275-282.
17. Hardy J., Selkoe D.J. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002, 297:353-356.
18. Kehoe P., Wavrant-De Vrieze C.R., Wu W.S., Holmans P., Fenton I., Spurlock G., Norton N., Williams H., Williams H., Lovestone S., Perez-Tur J., Hutton M., Chartier-Harlin M.C., Shears S., Roehl K., Booth J., Van Voorst W., Ramic D., Williams J., Goate A., Hardy J., Owen M.J., Owen M.J. A full genome scan for late onset alzheimer's disease. Hum. Mol. Genet 1999, 8:237-245.
19. Lagunova Z., Porojnicu A.C., Vieth R., Lindberg F.A., Hexeberg S., Moan J. Serum 25-hydroxyvitamin D is a predictor of serum 1,25-dihydroxyvitamin D in overweight and obese patients. J. Nutr 2011, 141:112-117.
20. Lee D.M., Tajar A., Ulubaev A., Pendleton N., O'Neill T.W., O'Connor D.B., Bartfai G., Boonen S., Bouillon R., Casanueva F.F., Finn J.D., Forti G., Giwercman A., Han T.S., Huhtaniemi I.T., Kula K., Lean M.E., Punab M., Silman A.J., Vanderschueren D., Wu F.C. Association between 25-hydroxyvitamin D levels and cognitive performance in middle-aged and older European men. J. Neurol. Neurosurg., Psychiatry 2009, 80:722-729. EMAS study group.
21. Lesné S., Docagne F., Gabriel C., Liot G., Lahiri D.K., Buée L., Plawinski L., Delacourte A., MacKenzie E.T., Buisson A., Vivien D. Transforming growth factor-beta 1 potentiates amyloid-beta generation in astrocytes and in transgenic mice. J. Biol. Chem 2003, 278:18408-18418.
22. Liang X., Schnetz-Boutaud N., Kenealy S.J., Jiang L., Bartlett J., Lynch B., Gaskell P.C., Gwirtsman H., McFarland L., Bembe M.L., Bronson P., Gilbert J.R., Martin E.R., Pericak-Vance M.A., Haines J.L. Covariate analysis of late-onset alzheimer disease refines the chromosome 12 locus. Mol. Psychiatry 2006, 11:280-285.
23. Luedecking-Zimmer E., DeKosky S.T., Nebes R., Kamboh M.I. Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset alzheimer's disease. Am. J. Med. Genet. B Neuropsychiatr. Genet 2003, 117:114-117.
24. Maund S.L., Barclay W.W., Hover L.D., Axanova L.S., Sui G., Hipp J.D., Fleet J.C., Thorburn A., Cramer S.D. Interleukin-1α mediates the antiproliferative effects of 1,25-dihydroxyvitamin D3 in prostate progenitor/stem cells. Cancer Res 2011, 71:5276-5286.
25. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer. Neurology 1984, 34:939-944.
26. Neveu I., Naveilhan P., Menaa C., Wion D., Brachet P., Garabédian M. Synthesis of 1,25-dihydroxyvitamin D3 by rat brain macrophages in vitro. J. Neurosci. Res 1994, 38:214-220.
27. Oudshoorn C., Mattace-Raso F.U., van der Velde N., Colin E.M., van der Cammen T.J. Higher serum vitamin D3 levels are associated with better cognitive test performance in patients with alzheimer's disease. Dement. Geriatr. Cogn. Disord 2008, 25:539-543.
28. Pericak-Vance M.A., Bass M.P., Yamaoka L.H., Gaskell P.C., Scott W.K., Terwedow H.A., Menold M.M., Conneally P.M., Small G.W., Vance J.M., Saunders A.M., Roses A.D., Haines J.L. Complete genomic screen in late-onset familial alzheimer disease. Evidence for a new locus on chromosome 12. JAMA 1997, 278:1237-1241.
29. Ponsonby A.L., Pezic A., Ellis J., Morley R., Cameron F., Carlin J., Dwyer T. Variation in associations between allelic variants of the vitamin D receptor gene and onset of type 1 diabetes mellitus by ambient winter ultraviolet radiation levels: a meta-regression analysis. Am. J. Epidemiol 2008, 168:358-365.
30. Przybelski R.J., Binkley N.C. Is vitamin D important for preserving cognition?. A positive correlation of serum 25-hydroxyvitamin D concentration with cognitive function. Arch. Biochem. Biophys 2007, 460:202-205.
31. Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M.A., Bender D., Maller J., Sklar P., de Bakker P.I., Daly M.J., Sham P.C. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet 2007, 81:559-575.
32. Rogaeva E., Premkumar S., Song Y., Sorbi S., Brindle N., Paterson A., Duara R., Levesque G., Yu G., Nishimura M., Ikeda M., O'Toole C., Kawarai T., Jorge R., Vilarino D., Bruni A.C., Farrer L.A., St George-Hyslop P.H. Evidence for an alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA 1998, 280:614-618. PH.
33. Rovelet-Lecrux A., Hannequin D., Raux G., Le Meur N., Laquerrière A., Vital A., Dumanchin C., Feuillette S., Brice A., Vercelletto M., Dubas F., Frebourg T., Campion D. APP locus duplication causes autosomal dominant early-onset alzheimer disease with cerebral amyloid angiopathy. Nat. Genet 2006, 38:24-26.
34. Sato Y., Asoh T., Oizumi K. High prevalence of vitamin D deficiency and reduced bone mass in elderly women with alzheimer's disease. Bone 1998, 23:555-557.
35. Saunders A.M., Strittmatter W.J., Schmechel D., George-Hyslop P.H., Pericak-Vance M.A., Joo S.H., Rosi B.L., Gusella J.F., Crapper-MacLachlan D.R., Alberts M.J., et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic alzheimer's disease. Neurology 1993, 43:1467-1472.
36. Slinin Y., Paudel M.L., Taylor B.C., Fink H.A., Ishani A., Canales M.T., Yaffe K., Barrett-Connor E., Orwoll E.S., Shikany J.M., Leblanc E.S., Cauley J.A., Ensrud K.E. 25-hydroxyvitamin D levels and cognitive performance and decline in elderly men. Neurology 2010, 74:33-41. Osteoporotic Fractures in Men (MrOS) Study Research Group, Osteoporotic Fractures in Men (MrOS) Study Research Group.
37. Slooter A.J., Cruts M., Kalmijn S., Hofman A., Breteler M.M., Van Broeckhoven C., van Duijn C.M. Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study. Arch. Neurol 1998, 55:964-968.
38. Smolders J., Peelen E., Thewissen M., Menheere P., Tervaert J.W., Hupperts R., Damoiseaux J. The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis. Autoimmun. Rev 2009, 8:621-626.
39. Suh E., Chen L., Taylor J., Traber P.G. A homeodomain protein related to caudal regulates intestine-specific gene transcription. Mol. Cell. Biol 1994, 14:7340-7351.
40. Sutherland M.K., Somerville M.J., Yoong L.K., Bergeron C., Haussler M.R., McLachlan D.R. Reduction of vitamin D hormone receptor mRNA levels in Alzheimer as compared to Huntington hippocampus: correlation with calbindin-28k mRNA levels. Brain Res. Mol. Brain Res 1992, 13:239-250.
41. Tanzi R.E., Vaula G., Romano D.M., Mortilla M., Huang T.L., Tupler R.G., Wasco W., Hyman B.T., Haines J.L., Jenkins B.J., Kalaitsidaki M., Warren A.C., McInnis M.C., Antonarakis S.E., Karlinsky H., Percy M.E., Connor L., Growdon J., Crapper-Mclachlan D.R., Gusella J.F., St.George-Hyslop P.H. Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am. J. Hum. Genet 1992, 51:273-282.
42. Wilkins C.H., Sheline Y.I., Roe C.M., Birge S.J., Morris J.C. Vitamin D deficiency is associated with low mood and worse cognitive performance in older adults. Am. J. Geriatr. Psychiatry 2006, 14:1032-1040.
43. Wisniewski L.P., Doherty R.A. Supernumerary microchromosomes identified as inverted duplications of chromosome 15: a report of three cases. Hum. Genet 1985, 69:161-163.
44. Wu W.S., Holmans P., Wavrant-DeVrièze F., Shears S., Kehoe P., Crook R., Booth J., Williams N., Pérez-Tur J., Roehl K., Fenton I., Chartier-Harlin M.C., Lovestone S., Williams J., Hutton M., Hardy J., Owen M.J., Goate A. Genetic studies on chromosome 12 in late-onset alzheimer disease. JAMA 1998, 280:619-622.
45. Yamamoto H., Miyamoto K., Li B., Taketani Y., Kitano M., Inoue Y., Morita K., Pike J.W., Takeda E. The caudal-related homeodomain protein cdx-2 regulates vitamin D receptor gene expression in the small intestine. J. Bone Miner. Res 1999, 14:240-247.
46. Yanagisawa J., Yanagi Y., Masuhiro Y., Suzawa M., Watanabe M., Kashiwagi K., Toriyabe T., Kawabata M., Miyazono K., Kato S. Convergence of transforming growth factor-beta and vitamin D signaling pathways on SMAD transcriptional coactivators. Science 1999, 283:1317-1321.
47. Zehnder D., Bland R., Williams M.C., McNinch R.W., Howie A.J., Stewart P.M., Hewison M. Extrarenal expression of 25-hydroxyvitamin d(3)-1 alpha-hydroxylase. J. Clin. Endocrinol. Metab 2001, 86:888-894.