Genetic Variation in imprinted genes is associated with risk of late-onset Alzheimer's disease

Journal of Alzheimer's Disease

Volumn 44, Issue 3, 2015, Pages 989-994

  Chaudhry, Mamoonah ^a   Wang, Xingbin ^b   Bamne, Mikhil N ^b   Hasnain, Shahida ^a,c   Demirci, F Yesim ^b   Lopez, Oscar L ^d   Kamboh, M Ilyas ^b,d  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c THE WOMEN UNIVERSITY MULTAN   (Pakistan)

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

Author keywords

Brain; gene expression; imprinting; late onset Alzheimer's disease

Indexed keywords

G PROTEIN COUPLED RECEPTOR; WT1 PROTEIN; DLGAP2 PROTEIN, HUMAN; GPR1 PROTEIN, HUMAN; GRB10 PROTEIN, HUMAN; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; NERVE PROTEIN; RIBONUCLEASE; TRANSCRIPTION FACTOR; WT1 PROTEIN, HUMAN; ZC3H12A PROTEIN, HUMAN;

AGED; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 7; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME IMPRINTING; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; GRB10 ADAPTOR PROTEIN; HAPLOTYPES; HUMANS; MALE; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, G-PROTEIN-COUPLED; RIBONUCLEASES; TRANSCRIPTION FACTORS; WT1 PROTEINS;

EID: 84922605582     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-142106     Document Type: Article

References (32)

1. Karch CM, Jeng AT, Nowotny P, Cady J, Cruchaga C, Goate AM (2012) Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains. PloS One 7, e50976.
2. Genin E, Hannequin D, Wallon D, Sleegers K, Hiltunen M, Combarros O, Bullido MJ, Engelborghs S, De Deyn P, Berr C (2011) APOE and Alzheimer disease: A major gene with semi-dominant inheritance. Mol Psychiatr 16, 903-907.
3. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert J-C, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 43, 429-435.
4. Lambert J, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido M, Tavernier B (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41, 1094-1099.
5. Lambert J-C, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, DeStefano AL, Bis JC, Beecham GW (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 45, 1452-1458.
6. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carrasquillo MM, Lambert JC (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303, 1832-1840.
7. Lee SH, Harold D, Nyholt DR, Goddard ME, Zondervan KT, Williams J, MontgomeryGW, Wray NR, Visscher PM (2013) Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Hum Mol Genet 22, 832-841.
8. Ridge PG, Mukherjee S, Crane PK, Kauwe JS (2013) Alzheimer's disease: Analyzing the missing heritability. PLoS One 8, e79771.
9. Barbaux S, Gascoin-Lachambre G, BuffatC, Monnier P, Mondon F, Tonanny M-B, Pinard A, Auer J, Bessières B, Barlier A (2012) A genome-wide approach reveals novel imprinted genes expressed in the human placenta. Epigenetics 7, 1079-1090.
10. Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ (2007) Computational and experimental identification of novel human imprinted genes. Genome Res 17, 1723-1730.
11. Morison IM, Ramsay JP, Spencer HG (2005) A census of mammalian imprinting. Trends Genet 21, 457-465.
12. Bartolomei MS, Ferguson-Smith AC (2011) Mammalian genomic imprinting. Cold Spring Harb Perspect Biol 3, a002592.
13. Kernohan KD,BérubéNG(2010) Genetic and epigenetic dysregulation of imprinted genes in the brain. Epigenomics 2, 743-763.
14. Reik W, Walter J (2001) Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2, 21-32.
15. Bassett SS, Avramopoulos D, Fallin D (2002) Evidence for parent of origin effect in late onset Alzheimer disease. Am J Med Genet 114, 679-686.
16. Berti V, Mosconi L, Glodzik L, Li Y, Murray J, De Santi S, Pupi A, TsuiW, De Leon MJ (2011) Structural brain changes in normal individuals with a maternal history of Alzheimer's. Neurobiol Aging 32, e17-e26.
17. Fallin MD, Szymanski M, Wang R, Gherman A, Bassett SS, Avramopoulos D (2010) Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controls. Neurogenetics 11, 335-348.
18. Liu Z, Chen HH, Li TL, Xu L, DuHQ(2013)Across sectional study on cerebrospinal fluid biomarker levels in cognitively normal elderly subjects with or without a family history of Alzheimer's disease. CNS Neurosci Ther 19, 38-42.
19. Mosconi L, Mistur R, Switalski R, Brys M, Glodzik L, Rich K, Pirraglia E, TsuiW, De Santi S, De LeonM(2009) Declining brain glucose metabolism in normal individuals with a maternal history of Alzheimer disease. Neurology 72, 513-520.
20. Bassett SS, Avramopoulos D, Perry RT, Wiener H, Watson B, Go RC, Fallin MD (2006) Further evidence of a maternal parent of origin effect on chromosome 10 in late onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 141, 537-540.
21. Mastroeni D, McKee A, Grover A, Rogers J, Coleman PD (2009) Epigenetic differences in cortical neurons from a pair of monozygotic twins discordant for Alzheimer's disease. PloS One 4, e6617.
22. Siegmund KD, Connor CM, Campan M, Long TI, Weisenberger DJ, Biniszkiewicz D, Jaenisch R, Laird PW, Akbarian S (2007) DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. PloS One 2, e895.
23. Tohgi H, Utsugisawa K, Nagane Y, Yoshimura M, Genda Y, Ukitsu M (1999) Reduction with age in methylcytosine in the promoter region-224 approximately-101 of the amyloid precursor protein gene in autopsy human cortex. Mol Brain Res 70, 288-292.
24. Wang H-X, Wahlberg M, Karp A, Winblad B, Fratiglioni L (2012) Psychosocial stress at work is associated with increased dementia risk in late life. Alzheimers Dement 8, 114-120.
25. Kamboh M, Demirci F, Wang X, Minster R, Carrasquillo M, Pankratz V, Younkin S, Saykin A, Jun G, Baldwin C (2012) Genome-wide association study of Alzheimer's disease. Transl Psychiatry 2, e117.
26. Barrett JC, Fry B, Maller J, Daly M (2005) Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263-265.
27. Ranta S, Zhang Y, Ross B, Takkunen E, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki A-E (2000) Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. Eur J Hum Genet 8, 381-384.
28. Marchese A, Docherty JM, Nguyen T, Heiber M, Cheng R, Heng HH, Tsui L-C, Shi X, George SR, O'Dowd BF (1994) Cloning of human genes encoding novel G protein-coupled receptors. Genomics 23, 609-618.
29. Lovell MA, Xie C, Xiong S, Markesbery WR (2003)Wilms' tumor suppressor (WT1) is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer's disease. Brain Res 983, 84-96.
30. Rebhan M, Chalifa-Caspi V, Prilusky J, Lancet D (1997) GeneCards: Integrating information about genes, proteins and diseases. Trends Gene 13, 163.
31. Davies W, Isles AR, Wilkinson LS (2005) Imprinted gene expression in the brain. Neurosci Biobehav Rev 29, 421-430.
32. Falls JG, Pulford DJ, Wylie AA, Jirtle RL (1999) Genomic imprinting: Implications for human disease. Am J Pathol 154, 635-647.