The TOMM40 poly-T rs10524523 variant is associated with cognitive performance among non-demented elderly with type 2 diabetes

European Neuropsychopharmacology

Volumn 24, Issue 9, 2014, Pages 1492-1499

  Greenbaum, Lior ^a   Springer, Ramit Ravona ^a   Lutz, Michael W ^b   Heymann, Anthony ^c,d   Lubitz, Irit ^a   Cooper, Itzik ^a   Kravitz, Efrat ^a   Sano, Mary ^e   Roses, Allen D ^b,f   Silverman, Jeremy M ^e   Saunders, Ann M ^b   Beeri, Michal Schnaider ^a,e  

^a SHEBA MEDICAL CENTER   (Israel)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

^d MACCABI HEALTHCARE SERVICES   (Israel)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f Zinfandel Pharmaceuticals   (United States)

Author keywords

Alzheimer's disease; APOE; Cognition; TOMM40; Type 2 diabetes

Indexed keywords

CHOLESTEROL; CREATININE; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN; TRIACYLGLYCEROL; APOLIPOPROTEIN E; CARRIER PROTEIN; TOMM40 PROTEIN, HUMAN;

AGED; ARTICLE; BODY MASS; CHOLESTEROL BLOOD LEVEL; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DIASTOLIC BLOOD PRESSURE; DISEASE DURATION; EPISODIC MEMORY; EXECUTIVE FUNCTION; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; TOMM40 GENE; TRIACYLGLYCEROL BLOOD LEVEL; COGNITION DISORDERS; COMPLICATION; GENETIC PREDISPOSITION; GENETICS; NEUROPSYCHOLOGICAL TEST;

APOLIPOPROTEINS E; COGNITION DISORDERS; DIABETES MELLITUS, TYPE 2; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; NEUROPSYCHOLOGICAL TESTS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84907598733     PISSN: 0924977X     EISSN: 18737862     Source Type: Journal    
DOI: 10.1016/j.euroneuro.2014.06.002     Document Type: Article

References (40)

1. Arvanitakis Z., Wilson R.S., Bienias J.L., Evans D.A., Bennett D.A. Diabetes mellitus and risk of Alzheimer disease and decline in cognitive function. Arch. Neurol. 2004, 61:661-666.
2. Beeri M.S., Ravona-Springer R., Silverman J.M., Haroutunian V. The effects of cardiovascular risk factors on cognitive compromise. Dialogues Clin. Neurosci. 2009, 11:201-212.
3. Beeri M.S., Schmeidler J., Sano M., Wang J., Lally R., Grossman H., Silverman J.M. Age, gender, and education norms on the CERAD neuropsychological battery in the oldest old. Neurology 2006, 67:1006-1010.
4. Biessels G.J., Deary I.J., Ryan C.M. Cognition and diabetes: a lifespan perspective. Lancet Neurol. 2008, 7:184-190.
5. Biessels G.J., Staekenborg S., Brunner E., Brayne C., Scheltens P. Risk of dementia in diabetes mellitus: a systematic review. Lancet Neurol. 2006, 5:64-74.
6. Caselli R.J., Dueck A.C., Huentelman M.J., Lutz M.W., Saunders A.M., Reiman E.M., Roses A.D. Longitudinal modeling of cognitive aging and the TOMM40 effect. Alzheimers Dement. 2012, 8:490-495.
7. Cauthen N.R. Verbal fluency: normative data. J. Clin. Psychol. 1978, 34:126-129.
8. 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.
9. Crenshaw D.G., Gottschalk W.K., Lutz M.W., Grossman I., Saunders A.M., Burke J.R., Welsh-Bohmer K.A., Brannan S.K., Burns D.K., Roses A.D. Using genetics to enable studies on the prevention of Alzheimer's disease. Clin. Pharmacol. Ther. 2013, 93:177-185.
10. Cruchaga C., Nowotny P., Kauwe J.S., Ridge P.G., Mayo K., Bertelsen S., Hinrichs A., Fagan A.M., Holtzman D.M., Morris J.C., Goate A.M. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch. Neurol. 2011, 68:1013-1019.
11. Davies G., Harris S.E., Reynolds C.A., Payton A., Knight H.M., Liewald D.C., Lopez L.M., Luciano M., Gow A.J., Corley J., Henderson R., Murray C., Pattie A., Fox H.C., Redmond P., Lutz M.W., Chiba-Falek O., Linnertz C., Saith S., Haggarty P., McNeill G., Ke X., Ollier W., Horan M., Roses A.D., Ponting C.P., Porteous D.J., Tenesa A., Pickles A., Starr J.M., Whalley L.J., Pedersen N.L., Pendleton N., Visscher P.M., Deary I.J. A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing. Mol. Psychiatry 2014, 19:76-87.
12. Ferencz B., Karlsson S., Kalpouzos G. Promising genetic biomarkers of preclinical Alzheimer's disease: the influence of APOE and TOMM40 on brain integrity. Int. J. Alzheimers Dis. 2012, 2012:421452.
13. Fernaeus S.E., Almkvist O. Word production: dissociation of two retrieval modes of semantic memory across time. J. Clin. Exp. Neuropsychol. 1998, 20:137-143.
14. Garcia-Escudero V., Martin-Maestro P., Perry G., Avila J. Deconstructing mitochondrial dysfunction in Alzheimer disease. Oxid. Med. Cell. Longev. 2013, 2013:162152.
15. Gregg E.W., Yaffe K., Cauley J.A., Rolka D.B., Blackwell T.L., Narayan K.M., Cummings S.R. Is diabetes associated with cognitive impairment and cognitive decline among older women? Study of Osteoporotic Fractures Research Group. Arch. Intern. Med. 2000, 160:174-180.
16. Hayden K.M., McEvoy J.M., Linnertz C., Attix D., Kuchibhatla M., Saunders A.M., Lutz M.W., Welsh-Bohmer K.A., Roses A.D., Chiba-Falek O. A homopolymer polymorphism in the TOMM40 gene contributes to cognitive performance in aging. Alzheimers Dement. 2012, 8:381-388.
17. Humphries A.D., Streimann I.C., Stojanovski D., Johnston A.J., Yano M., Hoogenraad N.J., Ryan M.T. Dissection of the mitochondrial import and assembly pathway for human Tom40. J. Biol. Chem. 2005, 280:11535-11543.
18. Johnson S.C., La Rue A., Hermann B.P., Xu G., Koscik R.L., Jonaitis E.M., Bendlin B.B., Hogan K.J., Roses A.D., Saunders A.M., Lutz M.W., Asthana S., Green R.C., Sager M.A. The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE epsilon3/epsilon3 genotype. Alzheimers Dement. 2011, 7:456-465.
19. Jun G., Vardarajan B.N., Buros J., Yu C.E., Hawk M.V., Dombroski B.A., Crane P.K., Larson E.B., Mayeux R., Haines J.L., Lunetta K.L., Pericak-Vance M.A., Schellenberg G.D., Farrer L.A. Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch. Neurol. 2012, 69:1270-1279.
20. Kim S., Swaminathan S., Shen L., Risacher S.L., Nho K., Foroud T., Shaw L.M., Trojanowski J.Q., Potkin S.G., Huentelman M.J., Craig D.W., DeChairo B.M., Aisen P.S., Petersen R.C., Weiner M.W., Saykin A.J. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology 2011, 76:69-79.
21. Knopman D., Boland L.L., Mosley T., Howard G., Liao D., Szklo M., McGovern P., Folsom A.R. Cardiovascular risk factors and cognitive decline in middle-aged adults. Neurology 2001, 56:42-48.
22. Li G., Bekris L.M., Leong L., Steinbart E.J., Shofer J.B., Crane P.K., Larson E.B., Peskind E.R., Bird T.D., Yu C.E. TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE epsilon3/epsilon3. Alzheimers Dement. 2013, 9:554-561.
23. Linnertz C., Anderson L., Gottschalk W., Crenshaw D., Lutz M.W., Allen J., Saith S., Mihovilovic M., Burke J.R., Welsh-Bohmer K.A., Roses A.D., Chiba-Falek O. The cis-regulatory effect of an Alzheimer's disease-associated poly-T locus on expression of TOMM40 and apolipoprotein E genes. Alzheimers Dement. 2014.
24. Linnertz C., Saunders A.M., Lutz M.W., Crenshaw D.M., Grossman I., Burns D.K., Whitfield K.E., Hauser M.A., McCarthy J.J., Ulmer M., Allingham R., Welsh-Bohmer K.A., Roses A.D., Chiba-Falek O. Characterization of the poly-T variant in the TOMM40 gene in diverse populations. PLoS One 2012, 7:e30994.
25. Luchsinger J.A. Type 2 diabetes and cognitive impairment: linking mechanisms. J Alzheimers Dis 2012, 30(Suppl. 2):S185-S198.
26. Luchsinger J.A., Reitz C., Patel B., Tang M.X., Manly J.J., Mayeux R. Relation of diabetes to mild cognitive impairment. Arch. Neurol. 2007, 64:570-575.
27. Luchsinger J.A., Tang M.X., Stern Y., Shea S., Mayeux R. Diabetes mellitus and risk of Alzheimer's disease and dementia with stroke in a multiethnic cohort. Am. J. Epidemiol. 2001, 154:635-641.
28. Lutz M.W., Crenshaw D.G., Saunders A.M., Roses A.D. Genetic variation at a single locus and age of onset for Alzheimer's disease. Alzheimers Dement. 2010, 6:125-131.
29. McCrimmon R.J., Ryan C.M., Frier B.M. Diabetes and cognitive dysfunction. Lancet 2012, 379:2291-2299.
30. Potkin S.G., Guffanti G., Lakatos A., Turner J.A., Kruggel F., Fallon J.H., Saykin A.J., Orro A., Lupoli S., Salvi E., Weiner M., Macciardi F. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS One 2009, 4:e6501.
31. Ravona-Springer R., Heymann A., Schmeidler J., Guerrero-Berroa E., Sano M., Preiss R., Koifman K., Hoffman H., Levy A., Silverman J.M., Schnaider-Beeri M. Haptoglobin 1-1 genotype is associated with poorer cognitive functioning in the elderly with type 2 diabetes. Diabetes Care 2013, 36:3139-3145.
32. Reitan R.M. The relation of the trail making test to organic brain damage. J. Consult. Psychol. 1955, 19:393-394.
33. Roses A.D., Lutz M.W., Amrine-Madsen H., Saunders A.M., Crenshaw D.G., Sundseth S.S., Huentelman M.J., Welsh-Bohmer K.A., Reiman E.M. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J. 2010, 10:375-384.
34. Roses A.D., Lutz M.W., Crenshaw D.G., Grossman I., Saunders A.M., Gottschalk W.K. TOMM40 and APOE: requirements for replication studies of association with age of disease onset and enrichment of a clinical trial. Alzheimers Dement. 2013, 9:132-136.
35. Rotkiewicz-Piorun A.M., Al Snih S., Raji M.A., Kuo Y.F., Markides K.S. Cognitive decline in older Mexican Americans with diabetes. J. Natl. Med. Assoc. 2006, 98:1840-1847.
36. Shen L., Kim S., Risacher S.L., Nho K., Swaminathan S., West J.D., Foroud T., Pankratz N., Moore J.H., Sloan C.D., Huentelman M.J., Craig D.W., Dechairo B.M., Potkin S.G., Jack C.R., Weiner M.W., Saykin A.J. Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: a study of the ADNI cohort. Neuroimage 2010, 53:1051-1063.
37. Spreen O., Benton A.L. Neurosensory Center Comprehensive Examination for Aphasia: Manual of Instructions (NCCEA) (rev.) 1977, University of Victoria, Victoria, BC.
38. Swerdlow R.H., Kish S.J. Mitochondria in Alzheimer's disease. Int. Rev. Neurobiol. 2002, 53:341-385.
39. Wechsler D. Wechsler Adult Intelligence Scale-Revised Manual 1981, The Psychological Corporation, San Antonio.
40. Wechsler D. Wechsler Memory Scale-Revised Manual 1987, The Psychological Corporation, San Antonio.