Association between the ABCG2 C421A polymorphism and Alzheimer's disease

Neuroscience Letters

Volumn 550, Issue , 2013, Pages 51-54

  Fehér, Ágnes ^a   Juhász, Anna ^a   László, Anna ^a   Pákáski, Magdolna ^a   Kálmán, János ^a   Janka, Zoltán ^a  

^a UNIVERSITY OF SZEGED   (Hungary)

Author keywords

ABCG2 C421A (rs2231142); Alzheimer's disease; ATP binding cassette subfamily G member 2 (ABCG2); Breast cancer resistance protein (BCRP); Single nucleotide polymorphism (SNP)

Indexed keywords

APOLIPOPROTEIN E; BREAST CANCER RESISTANCE PROTEIN;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR;

ABCG2 C421A (RS2231142); ALZHEIMER'S DISEASE; ATP BINDING CASSETTE SUBFAMILY G MEMBER 2 (ABCG2); BREAST CANCER RESISTANCE PROTEIN (BCRP); SINGLE NUCLEOTIDE POLYMORPHISM (SNP);

AGED; AGED, 80 AND OVER; ALLELES; ALZHEIMER DISEASE; APOLIPOPROTEINS E; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84881374105     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2013.06.044     Document Type: Article

References (31)

1. Ballabh P., Braun A., Nedergaard M. The blood-brain barrier: an overview: structure, regulation, and clinical implications. Neurobiol. Dis. 2004, 16:1-13.
2. Cirrito J.R., Deane R., Fagan A.M., Spinner M.L., Parsadanian M., Finn M.B., Jiang H., Prior J.L., Sagare A., Bales K.R., Paul S.M., Zlokovic B.V., Piwnica-Worms D., Holtzman D.M. P-glycoprotein deficiency at the blood-brain barrier increases amyloid-beta deposition in an Alzheimer disease mouse model. J. Clin. Invest. 2005, 115:3285-3290.
3. Cohen J. Statistical Power Analysis for the Behavioral Sciences 1988, 216-226. Lawrence Erlbaum Associates Inc., Hillsdale, NJ. Second ed.
4. 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.
5. de Jong F.A., Marsh S., Mathijssen R.H., King C., Verweij J., Sparreboom A., McLeod H.L. ABCG2 pharmacogenetics: ethnic differences in allele frequency and assessment of influence on irinotecan disposition. Clin. Cancer Res. 2004, 10:5889-5894.
6. Deane R., Sagare A., Hamm K., Parisi M., Lane S., Finn M.B., Holtzman D.M., Zlokovic B.V. ApoE isoform-specific disruption of amyloid beta peptide clearance from mouse brain. J. Clin. Invest. 2008, 118:4002-4013.
7. DeMattos R.B., Bales K.R., Parsadanian M., O'Dell M.A., Foss E.M., Paul S.M., Holtzman D.M. Plaque-associated disruption of CSF and plasma amyloid-beta (Abeta) equilibrium in a mouse model of Alzheimer's disease. J. Neurochem. 2002, 81:229-236.
8. Donahue J.E., Flaherty S.L., Johanson C.E., Duncan J.A., Silverberg G.D., Miller M.C., Tavares R., Yang W., Wu Q., Sabo E., Hovanesian V., Stopa E.G. RAGE, LRP-1, and amyloid-beta protein in Alzheimer's disease. Acta Neuropathol. (Berl.) 2006, 112:405Y15.
9. Donahue J.E., Johanson C.E. Apolipoprotein E, amyloid-beta, and blood-brain barrier permeability in Alzheimer disease. J. Neuropathol. Exp. Neurol. 2008, 67:261-270.
10. Fehér Á., Juhász A., Rimanóczy Á., Pákáski M., Kálmán J., Janka Z. No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population. Psychiatr. Genet. 2011, 21:249-252.
11. Fischer S., Lakatos P.L., Lakatos L., Kovacs A., Molnar T., Altorjay I., Papp M., Szilvasi A., Tulassay Z., Osztovits J., Papp J., Demeter P., Schwab R., Tordai A., Andrikovics H. ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgery in Hungarian patients with inflammatory bowel diseases. Scand. J. Gastroenterol. 2007, 42:726-733. Hungarian IBD Study Group.
12. Furukawa T., Wakabayashi K., Tamura A., Nakagawa H., Morishima Y., Osawa Y., Ishikawa T. Major SNP (Q141K) variant of human ABC transporter ABCG2 undergoes lysosomal and proteasomal degradations. Pharm. Res. 2009, 26:469-479.
13. Gardner E.R., Ahlers C.M., Shukla S., Sissung T.M., Ockers S.B., Price D.K., Hamada A., Robey R.W., Steinberg S.M., Ambudkar S.V., Dahut W.L., Figg W.D. Association of the ABCG2 C421A polymorphism with prostate cancer risk and survival. BJU Int. 2008, 102:1694-1699.
14. Hu L.L., Wang X.X., Chen X., Chang J., Li C., Zhang Y., Yang J., Jiang W., Zhuang S.M. BCRP gene polymorphisms are associated with susceptibility and survival of diffuse large B-cell lymphoma. Carcinogenesis 2007, 28:1740-1744.
15. Imai Y., Nakane M., Kage K., Tsukahara S., Ishikawa E., Tsuruo T., Miki Y., Sugimoto Y. C421A polymorphism in then human breast cancer resistance protein gene is associated with low expression of Q141K protein and low-level drug resistance. Mol. Cancer Ther. 2002, 1:611-616.
16. Kondo C., Suzuki H., Itoda M., Ozawa S., Sawada J., Kobayashi D., Ieiri I., Mine K., Ohtsubo K., Sugiyama Y. Functional analysis of SNPs variants of BCRP/ABCG2. Pharm. Res. 2004, 21:1895-1903.
17. Korenaga Y., Naito K., Okayama N., Hirata H., Suehiro Y., Hamanaka Y., Matsuyama H., Hinoda Y. Association of the BCRP C421A polymorphism with nonpapillary renal cell carcinoma. Int. J. Cancer 2005, 117:431-434.
18. Lam F.C., Liu R., Lu P., Shapiro A.B., Renoir J.M., Sharom F.J., Reiner P.B. Beta-amyloid efflux mediated by p-glycoprotein. J. Neurochem. 2001, 76:1121-1128.
19. Linton K.J. Structure and function of ABC transporters. Physiology (Bethesda) 2007, 22:122-130.
20. Mahley R.W., Weisgraber K.H., Huang Y. Apolipoprotein E4: a causative factor and therapeutic target in neuropathology, including Alzheimer's disease. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:5644-5651.
21. Mao Q., Unadkat J.D. Role of the breast cancer resistance protein (ABCG2) in drug transport. AAPS J. 2005, 07:E118-E133.
22. 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's disease. Neurology 1984, 34:939-944.
23. Mizuarai S., Aozasa N., Kotani H. Single nucleotide polymorphisms result in impaired membrane localization and reduced ATPase activity in multidrug transporter ABCG2. Int. J. Cancer 2004, 109:238-246.
24. Morisaki K., Robey R.W., Ozvegy-Laczka C., Honjo Y., Polgar O., Steadman K., Sarkadi B., Bates S.E. Single nucleotide polymorphisms modify the transporter activity of ABCG2. Cancer Chemother. Pharmacol. 2005, 56:161-172.
25. Pahnke J., Wolkenhauer O., Krohn M.A., Walker L.C. Clinico-pathologic function of cerebral ABC transporters-implications for the pathogenesis of Alzheimer's disease. Curr. Alzheimer Res. 2008, 5:396-405.
26. Selkoe D.J. Alzheimer's disease: genes, proteins and therapy. Physiol. Rev. 2001, 81:741-766.
27. Vogelgesang S., Cascorbi I., Schroeder E., Pahnke J., Kroemer H.K., Siegmund W., Kunert-Keil C., Walker L.C., Warzok R.W. Deposition of Alzheimer's beta-amyloid is inversely correlated with P-glycoprotein expression in the brains of elderly non-demented humans. Pharmacogenetics 2002, 12:535-541.
28. Wijesuriya H.C., Bullock J.Y., Faull R.L., Hladky S.B., Barrand M.A. ABC efflux transporters in brain vasculature of Alzheimer's subjects. Brain Res. 2010, 1358:228-238.
29. Xiong H., Callaghan D., Jones A., Bai J., Rasquinha I., Smith C., Pei K., Walker D., Lue L.F., Stanimirovic D., Zhang W. ABCG2 is upregulated in Alzheimer's brain with cerebral amyloid angiopathy and may act as a gatekeeper at the blood-brain barrier for Abeta(1-40) peptides. J. Neurosci. 2009, 29:5463-5475.
30. Zamber C.P., Lamba J.K., Yasuda K., Farnum J., Thummel K., Schuetz J.D., Schuetz E.G. Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine. Pharmacogenetics 2003, 13:19-28.
31. Zlokovic B.V. Clearing amyloid through the blood-brain barrier. J. Neurochem. 2004, 89:807Y11.