A Validation Study of Vascular Cognitive Impairment Genetics Meta-Analysis Findings in an Independent Collaborative Cohort

Journal of Alzheimer's Disease

Volumn 53, Issue 3, 2016, Pages 981-989

  Skrobot, Olivia Anna ^a   McKnight, Amy Jayne ^b   Passmore, Peter Anthony ^c   Seripa, Davide ^d   Mecocci, Patrizia ^e   Panza, Francesco ^d,f   Kalaria, Rajesh ^g   Wilcock, Gordon ^h   Munafò, Marcus ^a   Erkinjuntti, Timo ⁱ   Karhunen, Pekka ^j   Pessi, Tanja ^j   Martiskainen, Mika ^k   Love, Seth ^a   Kehoe, Patrick Gavin ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF PERUGIA   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^k TAMPERE UNIVERSITY HOSPITAL   (Finland)

more..

Author keywords

Association; cognitive impairment; dementia; gene; meta analysis; vascular

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); APOLIPOPROTEIN E; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MTHFR PROTEIN, HUMAN;

ALLELE; ARTICLE; COGNITIVE DEFECT; COHORT ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENETICS; GENOTYPE; HUMAN; META ANALYSIS; PRIORITY JOURNAL; SYSTEMATIC REVIEW; VALIDATION STUDY; VASCULAR COGNITIVE IMPAIRMENT; FEMALE; GENETIC DATABASE; GENETIC PREDISPOSITION; MALE; META ANALYSIS (TOPIC); MULTIINFARCT DEMENTIA; STATISTICAL MODEL;

APOLIPOPROTEINS E; COHORT STUDIES; DATABASES, GENETIC; DEMENTIA, VASCULAR; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; MALE; META-ANALYSIS AS TOPIC; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

EID: 84981298013     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-150862     Document Type: Article

References (49)

1. Attems J, JellingerKA(2014) The overlap between vascular disease and Alzheimer's disease-lessons from pathology. BMC Med 12, 206.
2. O'Brien JT, Markus HS (2014) Vascular risk factors and Alzheimer's disease. BMC Med 12, 218.
3. Roman GC (2002)Vascular dementia may be the most common form of dementia in the elderly. J Neurol Sci 203, 7-10.
4. Gorelick PB, Scuteri A, Black SE, Decarli C, Greenberg SM, Iadecola C, Launer LJ, Laurent S, Lopez OL, Nyenhuis D, Petersen RC, Schneider JA, Tzourio C, Arnett DK, Bennett DA, Chui HC, Higashida RT, Lindquist R, Nilsson PM, Roman GC, Sellke FW, Seshadri S, American Heart Association Stroke Council, Council on Epidemiology and Prevention, Council on Cardiovascular Nursing, Council on Cardiovascular Radiology and Intervention, and Council on Cardiovascular Surgery and Anesthesia (2011) Vascular contributions to cognitive impairment and dementia: A statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke 42, 2672-2713.
5. Kester MI, Scheltens P (2009) Dementia: The bare essentials. Pract Neurol 9, 241-251.
6. Akinyemi RO, Mukaetova-Ladinska EB, Attems J, Ihara M, Kalaria RN (2013) Vascular risk factors and neurodegeneration in ageing related dementias: Alzheimer's disease and vascular dementia. Curr Alzheimer Res 10, 642-653.
7. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE (2007) Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database. Nat Genet 39, 17-23.
8. Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, Garcia JH, Amaducci L, Orgogozo JM, Brun A, Hofman A, Moody DM, Obrien MD, Yamaguchi T, Grafman J, Drayer BP, Bennett DA, Fisher M, Ogata J, Kokmen E, Bermejo F, Wolf PA, Gorelick PB, Bick KL, Pajeau AK, Bell MA, Decarli C, Culebras A, Korczyn AD, Bogousslavsky J, Hartmann A, Scheinberg P (1993) Vascular dementia-diagnostic-criteria for research studies-Report of the NINDS-AIREN InternationalWorkshop. Neurology 43, 250-260.
9. O'Brien JT, Erkinjuntti T, Reisberg B, Roman G, Sawada T, Pantoni L, Bowler JV, Ballard C, DeCarli C, Gorelick PB, Rockwood K, Burns A, Gauthier S, DeKosky ST (2003) Vascular cognitive impairment. Lancet Neurol 2, 89-98.
10. Roman GC, Sachdev P, Royall DR, Bullock RA, Orgogozo JM, Lopez-Pousa S, Arizaga R, Wallin A (2004) Vascular cognitive disorder:Anewdiagnostic category updating vascular cognitive impairment and vascular dementia. J Neurol Sci 226, 81-87.
11. Liu H, Liu M, Li W, Wu B, Zhang SH, Fang Y, Wang Y (2009) Association of ACE I/D gene polymorphism with vascular dementia: A meta-analysis. J Geriatr Psychiatry Neurol 22, 10-22.
12. Liu H, Yang M, Li G-M, Qiu Y, Zheng J, Du X, Wang J-L, Liu R-W (2010) The MTHFR C677T polymorphism contributes to an increased risk for vascular dementia: A meta-analysis. J Neurol Sci 294, 74-80.
13. Liu X, Li L, Liu F, Deng S, Zhu R, Li Q, He Z (2012) ApoE gene polymorphism and vascular dementia in Chinese population: A meta-analysis. J Neural Transm 119, 387-394.
14. Sun JH, Tan L,Wang HF, Tan MS, Tan L, Li JQ, XuW, Zhu XC, Jiang T, Yu JT (2015) Genetics of vascular dementia: Systematic review and meta-analysis. J Alzheimers Dis 46, 611-629.
15. Dwyer R, Skrobot OA, Dwyer J, Munafo M, Kehoe PG (2013) Using Alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment. J Alzheimers Dis 34, 145-154.
16. Sterne JAC, Gavaghan D, Egger M (2000) Publication and related bias in meta-analysis: Power of statistical tests and prevalence in the literature. J Clin Epidemiol 53, 1119-1129.
17. Abdollahi MR, Huang S, Rodriguez S, Guthrie PA, Smith GD, Ebrahim S, Lawlor DA, Day IN, Gaunt TR (2008) Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS). Dis Markers 24, 11-17.
18. Radmanesh F, DevanWJ, Anderson CD, Rosand J, Falcone GJ, Alzheimer's Disease Neuroimaging Initiative (2014) Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data. Eur J Hum Genet 22, 1239-1242.
19. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, MaierW, Jessen F, Schurmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J,Wiltfang J, Dichgans M, Frolich L, Hampel H, Hull M, Rujescu D, Goate AM, Kauwe JS, CruchagaC,Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41, 1088-1093.
20. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses.AmJHumGenet 81, 559-575.
21. Pfrieger FW (2003) Cholesterol homeostasis and function in neurons of the central nervous system. Cell Mol Life Sci 60, 1158-1171.
22. Greenberg SM, Briggs ME, Hyman BT, Kokoris GJ, Takis C, Kanter DS, Kase CS, Pessin MS (1996) Apolipoprotein E epsilon 4 is associated with the presence and earlier onset of hemorrhage in cerebral amyloid angiopathy. Stroke 27, 1333-1337.
23. Chalmers K, Wilcock GK, Love S (2003) APOE epsilon 4 influences the pathological phenotype of Alzheimer's disease by favouring cerebrovascular over parenchymal accumulation of A beta protein. Neuropathol Appl Neurobiol 29, 231-238.
24. Stankovic S, Majkic-Singh N (2010) Genetic aspects of ischemic stroke: Coagulation, homocysteine, and lipoprotein metabolism as potential risk factors. Crit Rev Clin Lab Sci 47, 72-123.
25. Anuurad E, Rubin J, Lu G, Pearson TA, Holleran S, Ramakrishnan R, Berglund L (2006) Protective effect of apolipoprotein E2 on coronary artery disease in African Americans is mediated through lipoprotein cholesterol. J Lipid Res 47, 2475-2481.
26. Beilby J, Rossi E (2000) Broadsheet number 58: Homocysteine and disease. Pathology 32, 262-273.
27. Hankey GJ, Eikelboom JW (1999) Homocysteine and vascular disease. Lancet 354, 407-413.
28. Elkins JS, Johnston SC, Ziv E, Kado D, Cauley JA, Yaffe K (2007) Methylenetetrahydrofolate reductase C677T polymorphism and cognitive function in older women. Am J Epidemiol 166, 672-678.
29. Cronin S, Furie KL, Kelly PJ (2005) Dose-related association of MTHFR 677T allele with risk of ischemic stroke: Evidence from a cumulative meta-analysis. Stroke 36, 1581-1587.
30. Pollak RD, Pollak A, Idelson M, Bejarano-Achache I, Doron D, Blumenfeld A (2000) The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular dementia. J Am Geriatr Soc 48, 664-668.
31. Bi XH, Zhao HL, Zhang ZX, Zhang JW (2009) Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease. Neurobiol Aging 30, 1601-1607.
32. Mansoori N, Tripathi M, Alam R, Luthra K, Ramakrishnan L, Parveen S, Mukhopadhyay AK (2010) IL-6-174 G/C and ApoE gene polymorphisms in Alzheimer's and vascular dementia patients attending the cognitive disorder clinic of the All India Institute of Medical Sciences, New Delhi. Dement Geriatr Cogn Disord 30, 461-468.
33. Ward LD,KellisM(2012) HaploReg:Aresource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res 40, D930-934.
34. Westra HJ, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, Christiansen MW, Fairfax BP, Schramm K, Powell JE, Zhernakova A, Zhernakova DV, Veldink JH, Van den Berg LH, Karjalainen J, Withoff S, Uitterlinden AG, Hofman A, Rivadeneira F, t Hoen PA, Reinmaa E, Fischer K, Nelis M, Milani L, Melzer D, Ferrucci L, Singleton AB, Hernandez DG, Nalls MA, Homuth G, Nauck M, Radke D, Volker U, Perola M, Salomaa V, Brody J, Suchy-Dicey A, Gharib SA, Enquobahrie DA, Lumley T, Montgomery GW, Makino S, Prokisch H, Herder C, Roden M, Grallert H, Meitinger T, Strauch K, Li Y, Jansen RC, Visscher PM, Knight JC, Psaty BM, Ripatti S, Teumer A, Frayling TM, Metspalu A, van Meurs JB, Franke L (2013) Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 45, 1238-1243.
35. Guo X, Chen KH, Guo Y, Liao H, Tang J, Xiao RP (2007) Mitofusin 2 triggers vascular smooth muscle cell apoptosis via mitochondrial death pathway. Circ Res 101, 1113-1122.
36. Verhoeven K, Claeys KG, Zuchner S, Schroder JM,Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129, 2093-2102.
37. Gan X,Wu L, Huang S, Zhong C, Shi H, Li G,Yu H, Howard Swerdlow R, Xi Chen J, Yan SS (2014) Oxidative stressmediated activation of extracellular signal-regulated kinase contributes to mild cognitive impairment-related mitochondrial dysfunction. Free Radic Biol Med 75, 230-240.
38. Barsoum MJ, Yuan H, Gerencser AA, Liot G, Kushnareva Y, Graber S, Kovacs I, Lee WD, Waggoner J, Cui J, White AD, Bossy B, Martinou JC, Youle RJ, Lipton SA, Ellisman MH, Perkins GA, Bossy-Wetzel E (2006) Nitric oxide-induced mitochondrial fission is regulated by dynamin-related GTPases in neurons. EMBO J 25, 3900-3911.
39. Wang X, Su B, Lee HG, Li X, Perry G, Smith MA, Zhu X (2009) Impaired balance of mitochondrial fission and fusion in Alzheimer's disease. J Neurosci 29, 9090-9103.
40. Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kolsch H, Heun R, Schurmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frolich L, Hampel H, Hull M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, ShawCE, Tsolaki M, Singleton AB, Guerreiro R, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N,Wichmann HE, Carrasquillo MM, Pankratz VS,Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ,Williams J (2012) The role of variation at AbetaPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 28, 377-387.
41. Koyama A, O'Brien J, Weuve J, Blacker D, Metti AL, Yaffe K (2013) The role of peripheral inflammatory markers in dementia and Alzheimer's disease: A meta-analysis. J Gerontol A Biol Sci Med Sci 68, 433-440.
42. Sharp SI, Aarsland D, Day S, Sonnesyn H, Ballard C (2011) Hypertension is a potential risk factor for vascular dementia: Systematic review. Int J Geriatr Psychiatry 26, 661-669.
43. Liu H, Xia P, Liu M, Ji XM, Sun HB, Tao L, Mu QW (2013) PON gene polymorphisms and ischaemic stroke: A systematic reviewand meta analysis. Int J Stroke 8, 111-123.
44. Mendonca MI, Dos Reis RP, Freitas AI, Sousa AC, Pereira A, Faria P, Gomes S, Silva B, Santos N, Serrao M, Ornelas I, Freitas S, Freitas C, Araujo JJ, Brehm A, Cardoso AA (2009) Gene-gene interaction affects coronary artery disease risk. Rev Port Cardiol 28, 397-415.
45. Sayed-Tabatabaei FA, Oostra BA, Isaacs A, van Duijn CM, Witteman JCM (2006) ACE polymorphisms. Circ Res 98, 1123-1133.
46. Schrijvers EMC, Schuermann B, Koudstaal PJ, van den Bussche H, Van Duijn CM, Hentschel F, Heun R, Hofman A, Jessen F, Koelsch H, Kornhuber J, Peters O, Rivadeneira F, Ruether E, Uitterlinden AG, Riedel-Heller S, Dichgans M,Wiltfang J, MaierW, Breteler MMB, Ikram MA (2012) Genome-wide association study of vascular dementia. Stroke 43, 315-319.
47. Kim Y, Kong M, Lee C (2013) Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia. World J Biol Psychiatry 14, 220-226.
48. Lee C, Kim Y (2013) Complex genetic susceptibility to vascular dementia and an evidence for its underlying genetic factors associated with memory and associative learning. Gene 516, 152-157.
49. Calero M, Gomez-Ramos A, Calero O, Soriano E, Avila J, Medina M (2015) Additional mechanisms conferring genetic susceptibility to Alzheimer's disease. Front Cell Neurosci 9, 138.