Large common deletions associate with mortality at old age

Human Molecular Genetics

Volumn 20, Issue 21, 2011, Pages 4290-4296

  Kuningas, Maris ^a   Estrada, Karol ^a   Hsu, Yi Hsiang ^b,c   Nandakumar, Kannabiran ^b   Uitterlinden, André G ^a,d   Lunetta, Kathryn L ^e   van Duijn, Cornelia M ^a,d   Karasik, David ^b   Hofman, Albert ^a,d   Murabito, Joanne ^f,g   Rivadeneira, Fernando ^a,d   Kiel, Douglas P ^b   Tiemeier, Henning ^a,d  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^d Netherlands Genomics Initiative   (Netherlands)

^e BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^f BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g FRAMINGHAM HEART STUDY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AGING; ARTICLE; COPY NUMBER VARIATION; FEMALE; FOLLOW UP; GENE DELETION; GENETIC ASSOCIATION; HUMAN; LIFESPAN; MAJOR CLINICAL STUDY; MALE; MORTALITY; PRIORITY JOURNAL;

ADULT; AGED; AGING; CHROMOSOMES, HUMAN, PAIR 11; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LONGEVITY; MALE; MIDDLE AGED; MORTALITY; SEQUENCE DELETION;

EID: 80053947025     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr340     Document Type: Article

References (40)

1. Hjelmborg, J.W., Iachine, I., Skytthe, A., Vaupel, J.W., McGue, M., Koskenvuo, M., Kaprio, J., Pedersen, N.L. and Christensen, K. (2006) Genetic influence on human lifespan and longevity. Hum. Genet., 119, 312-321.
2. Mitchell, B.D., Hsueh, W.C., King, T.M., Pollin, T.I., Sorkin, J., Agarwala, R., Schaffer, A.A. and Shuldiner, A.R. (2001) Heritability of life span in the Old Order Amish. Am. J. Med. Genet., 102, 346-352.
3. Gudmundsson, H., Gudbjartsson, D.F., Frigge, M., Gulcher, J.R. and Stefansson, K. (2000) Inheritance of human longevity in Iceland. Eur. J. Hum. Genet., 8, 743-749.
4. Newman, A.B., Walter, S., Lunetta, K.L., Garcia, M.E., Slagboom, P.E., Christensen, K., Arnold, A.M., Aspelund, T., Aulchenko, Y.S., Benjamin, E.J. et al. (2010) A meta-analysis of four genome-wide association studies of survival to age 90 years or older: the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium. J. Gerontol. A Biol. Sci. Med. Sci., 65A, 478-487.
5. Sebastiani, P., Solovieff, N., Puca, A., Hartley, S.W., Melista, E., Andersen, S., Dworkis, D.A., Wilk, J.B., Myers, R.H., Steinberg, M.H. et al. (2010) Genetic signatures of exceptional longevity in humans. Science, 22, 404-415.
6. McCarroll, S.A., Kuruvilla, F.G., Korn, J.M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M.H., de Bakker, P.I.W., Maller, J.B., Kirby, A. et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet., 40, 1166-1174.
7. Stranger, B.E., Forrest, M.S., Dunning, M., Ingle, C.E., Beazley, C., Thorne, N., Redon, R., Bird, C.P., de Grassi, A., Lee, C. et al. (2007) Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science, 315, 848-853.
8. Feuk, L., Carson, A.R. and Scherer, S.W. (2006) Structural variation in the human genome. Nat. Rev. Genet., 7, 85-97.
9. Henrichsen, C.N., Chaignat, E. and Reymond, A. (2009) Copy number variants, diseases and gene expression. Hum. Mol. Genet., 18, R1-R8.
10. Zhang, F., Gu, W., Hurles, M.E. and Lupski, J.R. (2009) Copy number variation in human health, disease, and evolution. Annu. Rev. Genomics Hum. Genet., 10, 451-481.
11. Glessner, J.T., Wang, K., Cai, G., Korvatska, O., Kim, C.E., Wood, S., Zhang, H., Estes, A., Brune, C.W., Bradfield, J.P. et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459, 569-573.
12. Mefford, H.C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P. et al. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet., 6, e1000962.
13. Glessner, J.T., Reilly, M.P., Kim, C.E., Takahashi, N., Albano, A., Hou, C., Bradfield, J.P., Zhang, H., Sleiman, P.M.A., Flory, J.H. et al. (2010) Strong synaptic transmission impact by copy number variations in schizophrenia. Proc. Natl. Acad. Sci. USA, 107, 10584-10589.
14. The International Schizophrenia Consortium (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241.
15. The Wellcome Trust Case Control Consortium (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464, 713-720.
16. Zhang, D., Cheng, L., Qian, Y., Alliey-Rodriguez, N., Kelsoe, J.R., Greenwood, T., Nievergelt, C., Barrett, T.B., McKinney, R., Schork, N. et al. (2009) Singleton deletions throughout the genome increase risk of bipolar disorder. Mol. Psychiatry, 14, 376-380.
17. Cronin, S., Blauw, H.M., Veldink, J.H., van Es, M.A., Ophoff, R.A., Bradley, D.G., van den Berg, L.H. and Hardiman, O. (2008) Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum. Mol. Genet., 17, 3392-3398.
18. Blauw, H.M., Al-Chalabi, A., Andersen, P.M., van Vught, P.W., Diekstra, F.P., van Es, M.A., Saris, C.G., Groen, E.J., van Rheenen, W., Koppers, M. et al. (2010) A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum. Mol. Genet., 19, 4091-4099.
19. Bochukova, E.G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O'Rahilly, S. et al. (2010) Large, rare chromosomal deletions associated with severe early-onset obesity. Nature, 463, 666-670.
20. Talmud, P.J., Drenos, F., Shah, S., Shah, T., Palmen, J., Verzilli, C., Gaunt, T.R., Pallas, J., Lovering, R., Li, K. et al. (2009) Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am. J. Hum. Genet., 85, 628-642.
21. Boulalas, I., Zaravinos, A., Karyotis, I., Delakas, D. and Spandidos, D.A. (2009) Activation of RAS family genes in urothelial carcinoma. J. Urol., 181, 2312-2319.
22. Vogel, U., Olsen, A., Wallin, H., Overvad, K., Tjonneland, A. and Nexo, B.A. (2005) Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50. Cancer Detect. Prev., 29, 209-214.
23. Basta, P.V., Bensen, J.T., Tse, C.K., Perou, C.M., Sullivan, P.F. and Olshan, A.F. (2008) Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck. Cancer Detect. Prev., 32, 200-208.
24. Johansson, L.E., Johansson, L.M., Danielsson, P., Norgren, S., Johansson, S., Marcus, C. and Ridderstrale, M. (2009) Genetic variance in the adiponutrin gene family and childhood obesity. PLoS One, 4, e5327.
25. Bonafe', M., Barbi, C., Olivieri, F., Yashin, A., Andreev, K.F., Vaupel, J.W., De Benedictis, G., Rose, G., Carrieri, G., Jazwinski, S.M. et al. (2002) An allele of HRAS1 3' variable number of tandem repeats is a frailty allele: implication for an evolutionarily-conserved pathway involved in longevity. Gene, 286, 121-126.
26. Jazwinski, S.M., Kim, S., Dai, J., Li, L., Bi, X., Jiang, J.C., Arnold, J., Batzer, M.A., Walker, J.A., Welsh, D.A. et al. (2010) HRAS1 and LASS1 with APOE are associated with human longevity and healthy aging. Aging Cell, 9, 698-708.
27. Lescai, F., Blanche, H., Nebel, A., Beekman, M., Sahbatou, M., Flachsbart, F., Slagboom, E., Schreiber, S., Sorbi, S., Passarino, G. et al. (2009) Human longevity and 11p15.5: a study in 1321 centenarians. Eur. J. Hum. Genet., 17, 1515-1519.
28. Bellizzi, D., Rose, G., Cavalcante, P., Covello, G., Dato, S., De Rango, F., Greco, V., Maggiolini, M., Feraco, E., Mari, V. et al. (2005) A novel VNTR enhancer within the SIRT3 gene, a human homologue of SIR2, is associated with survival at oldest ages. Genomics, 85, 258-263.
29. De Luca, M., Rose, G., Bonafé, M., Garasto, S., Greco, V., Weir, B.S., Franceschi, C. and De Benedictis, G. (2001) Sex-specific longevity associations defined by Tyrosine Hydroxylase-Insulin-Insulin Growth Factor 2 haplotypes on the 11p15.5 chromosomal region. Exp. Gerontol., 36, 1663-1671.
30. Zhan, L., Kerr, J.R., Lafuente, M.J., Maclean, A., Chibalina, M.V., Liu, B., Burke, B., Bevan, S. and Nasir, J. (2011) Altered expression and coregulation of dopamine signalling genes in schizophrenia and bipolar disorder. Neuropathol. Appl. Neurobiol., 37, 206-219.
31. Ludwig, M.Z. (2002) Functional evolution of noncoding DNA. Curr. Opin. Genet. Dev., 12, 634-639.
32. Carter, N.P. (2007) Methods and strategies for analyzing copy number variation using DNA microarrays. Nat. Genet., 39(7 Suppl):S16-S21.
33. Alkan, C., Coe, B.P. and Eichler, E.E. (2011) Genome structural variation discovery and genotyping. Nat. Rev. Genet., 12, 363-376.
34. Hofman, A., Breteler, M., van Duijn, C., Janssen, H., Krestin, G., Kuipers, E., Stricker, B., Tiemeier, H., Uitterlinden, A., Vingerling, J. et al. (2009) The Rotterdam Study: 2010 objectives and design update. Eur. J. Epidemiol., 24, 553-572.
35. Dawber, T.R., Kannel, W.B. and Lyell, L.P. (1963) An approach to longitudinal studies in a community: the Framingham Study. Ann. N. Y. Acad. Sci., 107, 539-556.
36. Dawber, T.R., Meadors, G.F. and Moore, F.E. Jr. (1951) Epidemiological approaches to heart disease: the Framingham Study. Am. J. Public Health Nations Health, 41, 279-281.
37. Feinleib, M., Kannel, W.B., Garrison, R.J., McNamara, P.M. and Castelli, W.P. (1975) The Framingham offspring study. Design and preliminary data. Prev. Med., 4, 518-525.
38. Kannel, W.B., Feinleib, M., McNamara, P.M., Garrison, R.J. and Castelli, W.P. (1979) An investigation of coronary heart disease in families. The Framingham offspring study. Am. J. Epidemiol., 110, 281-290.
39. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
40. Willer, C.J., Li, Y. and Abecasis, G.R. (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics, 26, 2190-2191.