Connecting the dots: Potential of data integration to identify regulatory snps in late-onset alzheimer's disease GWAS findings

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Rosenthal, Samantha L ^a   Barmada, M Michael ^a   Wang, Xingbin ^a   Demirci, F Yesim ^a   Kamboh, M Ilyas ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA7 GENE; ALZHEIMER DISEASE; ARTICLE; BIN1 GENE; BINDING AFFINITY; CASS4 GENE; CD2AP GENE; CELF1 GENE; FOXA1 GENE; GENE; GENE EXPRESSION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INTRON; JUN GENE; MTCH2 GENE; NDUFS3 GENE; NUP160 GENE; ONSET AGE; PICALM GENE; POLR2A GENE; PTK2B GENE; QUANTITATIVE TRAIT LOCUS; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SMARCC2 GENE; ZCWPW1 GENE; FEMALE; GENETICS; MALE;

ABC TRANSPORTER; ABCA7 PROTEIN, HUMAN; CLU PROTEIN, HUMAN; CLUSTERIN;

ALZHEIMER DISEASE; ATP-BINDING CASSETTE TRANSPORTERS; CLUSTERIN; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84899674587     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0095152     Document Type: Article

References (22)

1. Manolio T. Published GWA reports 2005-6/2012. Available at: www.genome.gov/gwastudies. Accessed [10 Septmber 2013].
2. Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, et al. (2012) Annotation of functional variation in personal genomes using Regulome DB. Genome Res 22: 1790-1797.
3. Venter CJ, Adams MD, Myers EW, Li PW, Mural RJ, et al. (2001). The sequence of the human genome. Science 291: 1304-1351. (Pubitemid 32173090)
4. The ENOCDE Project Consortium. (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489: 57-74.
5. Naj AC, Jun G, Beecham GW, Wang LS, Narayan B, et al. (2011) Common variants in MS4A4/MS4A6E, CD2AP, CD33, and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43: 436-441.
6. Hollingworth PJ, Harold D, Sims R, Gerrish A, Lambert JC, et al. (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33, and CD2AP are associated with Alzheimer's disease. Nat Genet 43: 429-435.
7. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, et al. (2013) Meta-analysis of 74, 046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 45: 1452-1458.
8. Kamboh MI, Demirci FY, Minster RL, Carrasquillo MM, Pankratz VS, et al. (2012) Genome-wide association study of Alzheimer's disease. Transl Psychiatry 2: e117.
9. Kamboh MI, Barmada MM, Demrici FY, Minster RL, Carrasquillo MM, et al. (2011) Genome-wide association analysis of age-at-onset in Alzheimer's disease. Mol Psychiatry 17: 1340-1346.
10. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, et al. (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzhiemer's disease. A meta-analysis. JAMA 278: 1349-1356. (Pubitemid 27449696)
11. Genin E, Hannequin D, Wallon D, Sleegers K, Hiltunen M, et al. (2011) APOE and Alzheimer disease: A major gene with semi-dominant inheritance. Mol Psychiatry 16:903-907.
12. Johnson AD, Handsaker RE, Pulit S, Nizzari MM, O'Donnell CJ, et al. (2008) A web-based tool for identification and annotation of proxy SNPs using Hap Map. Bioinformatics 24: 2938-2939.
13. Li Q, Wang L, Tan W, Peng Z, Luo Y, et al. (2011) Identification of C1qTNF related protein 4 as a potential cytokine that stimulates the STAT3 and NF-kB pathways and promotes cell survival in human cancer cells. Cancer Lett 308: 203- 214.
14. Driver JA, Beiser A, Au R, Kreger BE, Splansky GL, et al. (2012) Inverse association between cancer and Alzheimer's disease: results from the Framingham Heart Study. BMJ 344: e1442.
15. Ganguli M. (2012) A reduced risk of Alzheimer's disease in those who survive cancer. BMJ 344:e1662., Comment.
16. Alinikula J, Kohonen P, Nera KP, Lassila O. (2010) Concerted action of Helios and Ikaros controls the expression of the inositol 5-phosphatase SHIP. Eur J Immunol 40: 2599-2607.
17. Rebhan M, Chalifa-Caspi V, Prilusky J, Lancet D. (1997). GeneCards: integrating information about genes, proteins and diseases. Trends Genet 13: 163. (Pubitemid 127739947)
18. Majumdar ID, Weber HC. (2011) Biology of mammalian bombesin-like peptides and their receptors. Curr Opin Endocrinol Diabetes Obes 18: 68-74., Review.
19. Gonazalez N, Moody TW, Igarhashi H, Ito T, Jensen RT. (2008) Bombesinrelated peptides and their receptors: recent advances in their role in physiology and disease states. Curr Opin Endocrinol Diabetes Obes 15: 58-64., Review.
20. Benadiba C, Magnani D, Niquille M, Morle L, Valloton D, et al. (2012) The ciliogenic transcription factor RFX3 regulates early midline distributionguidepost neurons required for corpus callosum development. PLoS Genet 8: e1002606.
21. Ait-Lounis A, Bonal C, Seguin-Estevez Q, Schmid CD, Bucher P, et al. (2010) The transcription factor Rfx3 regulates beta-cell differentiation, function, and glucokinase expression. Diabetes 59: 1674-1685.
22. de la Monte, SM, Tong M. (2014) Brain metabolic dysfunction at the core of Alzheimer's disease. Biochem Pharmaco 88: 548-559., Review.