Genetics and genomics of human ageing

Philosophical Transactions of the Royal Society B: Biological Sciences

Volumn 366, Issue 1561, 2011, Pages 43-50

  Wheeler, Heather E ^a   Kim, Stuart K ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Centenarians; Genomic convergence; Human ageing; Longitudinal studies; Tissue ageing

Indexed keywords

AGING POPULATION; GENE EXPRESSION; GENETIC ANALYSIS; GENOMICS; MORTALITY; POLYMORPHISM; PROBABILITY;

EID: 79251471784     PISSN: 09628436     EISSN: 14712970     Source Type: Journal    
DOI: 10.1098/rstb.2010.0259     Document Type: Review

References (82)

1. Oeppen, J. & Vaupel, J. W. 2002 Demography. Broken limits to life expectancy. Science 296, 1029-1031. (doi:10.1126/science.1069675)
2. Wilmoth, J. R. 1998 The future of human longevity: A demographer's perspective. Science 280, 395-397. (doi:10.1126/science.280.5362.395)
3. Sonnega, A. 2006 The future of human life expectancy: Have we reached the ceiling or is the sky the limit? Research highlights in the demography and economics of aging 8, 1-4.
4. Herskind, A. M., McGue, M., Holm, N. V., Sorensen, T. I., Harvald, B. & Vaupel, J. W. 1996 The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870-1900. Hum. Genet. 97, 319-323. (doi:10.1007/BF02185763)
5. McGue, M., Vaupel, J.W., Holm, N. & Harvald, B. 1993 Longevity is moderately heritable in a sample of Danish twins born 1870-1880. J. Gerontol. 48, B237-B244.
6. Atzmon, G., Rincon, M., Schechter, C. B., Shuldiner, A. R., Lipton, R. B., Bergman, A. & Barzilai, N. 2006 Lipoprotein genotype and conserved pathway for exceptional longevity in humans. PLoS Biol. 4, e113. (doi:10.1371/ journal.pbio.0040113)
7. Perls, T. T. et al. 2002 Life-long sustained mortality advantage of siblings of centenarians. Proc. Natl Acad. Sci. USA 99, 8442-8447. (doi:10.1073/pnas.122587599)
8. Puca, A. A., Daly, M. J., Brewster, S. J., Matise, T. C., Barrett, J. & Shea-Drinkwater, M. 2001 A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc. Natl Acad. Sci. USA 98, 10 505-10 508. (doi:10.1073/pnas.181337598)
9. Geesaman, B. J., Benson, E., Brewster, S. J., Kunkel, L. M., Blanche, H., Thomas, G., Perls, T. T., Daly, M. J. & Puca, A. A. 2003 Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proc. Natl Acad. Sci. USA 100, 14 115-14 120. (doi:10.1073/pnas. 1936249100)
10. Nebel, A., Croucher, P. J., Stiegeler, R., Nikolaus, S., Krawczak, M. & Schreiber, S. 2005 No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc. Natl Acad. Sci. USA 102, 7906-7909. (doi:10.1073/pnas.0408670102)
11. 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. 1993 Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923. (doi:10.1126/science.8346443)
12. Kervinen, K., Savolainen, M. J., Salokannel, J., Hynninen, A., Heikkinen, J., Ehnholm, C., Koistinen, M. J. & Kesäniemi, Y. A. 1994 Apolipoprotein E and B polymorphisms- longevity factors assessed in nonagenarians. Atherosclerosis 105, 89-95. (doi:10.1016/0021-9150(94) 90011-6)
13. Zuo, L., van Dyck, C. H., Luo, X., Kranzler, H. R., Yang, B. Z. & Gelernter, J. 2006 Variation at APOE and STH loci and Alzheimer's disease. Behav. Brain Funct. 2, 13. (doi:10.1186/1744-9081-2-13)
14. Jiang, Q. et al. 2008 ApoE promotes the proteolytic degradation of Ab. Neuron 58, 681-693. (doi:10.1016/ j.neuron.2008.04.010)
15. Schachter, F., Faure-Delanef, L., Guenot, F., Rouger, H., Froguel, P., Lesueur-Ginot, L. & Daniel, C. 1994 Genetic associations with human longevity at the APOE and ACE loci. Nat. Genet. 6, 29-32. (doi:10.1038/ng0194- 29)
16. Aviv, A. 2006 Telomeres and human somatic fitness. J. Gerontol. A Biol. Sci. Med. Sci. 61, 871-873.
17. Njajou, O. T. et al. 2007 Telomere length is paternally inherited and is associated with parental lifespan. Proc. Natl Acad. Sci. USA 104, 12 135-12 139. (doi:10. 1073/pnas.0702703104)
18. Wong, J. M. & Collins, K. 2003 Telomere maintenance and disease. Lancet 362, 983-988. (doi:10.1016/ S0140-6736(03)14369-3)
19. Atzmon, G. et al. 2010 Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians. Proc. Natl Acad. Sci. USA 107(Suppl. 1), 1710-1717. (doi:10.1073/pnas.0906191106)
20. Kenyon, C., Chang, J., Gensch, E., Rudner, A. & Tabtiang, R. 1993 A C. elegans mutant that lives twice as long as wild type. Nature 366, 461-464. (doi:10. 1038/366461a0)
21. Clancy, D. J., Gems, D., Harshman, L. G., Oldham, S., Stocker, H., Hafen, E., Leevers, S. J. & Partridge, L. 2001 Extension of life-span by loss of CHICO, a Drosophila insulin receptor substrate protein. Science 292, 104-106. (doi:10.1126/science.1057991)
22. Tatar, M., Kopelman, A., Epstein, D., Tu, M. P., Yin, C. M. & Garofalo, R. S. 2001 A mutant Drosophila insulin receptor homolog that extends life-span and impairs neuroendocrine function. Science 292, 107-110. (doi:10.1126/science.1057987)
23. Bluher,M.,Kahn,B.B.&Kahn,C.R. 2003Extended longevity in mice lacking the insulin receptor in adipose tissue. Science 299, 572-574. (doi:10.1126/science.1078223)
24. Holzenberger, M., Dupont, J., Ducos, B., Leneuve, P., Geloen, A., Even, P. C., Cervera, P. & Le Bouc, Y. 2003 IGF-1 receptor regulates lifespan and resistance to oxidative stress in mice. Nature 421, 182-187. (doi:10.1038/nature01298)
25. Guarente, L. & Kenyon, C. 2000 Genetic pathways that regulate ageing in model organisms. Nature 408, 255-262. (doi:10.1038/35041700)
26. Willcox, B. J. et al. 2008 FOXO3A genotype is strongly associated with human longevity. Proc. Natl Acad. Sci. USA 105, 13 987-13 992. (doi:10.1073/pnas. 0801030105)
27. Suh, Y., Atzmon, G., Cho, M. O., Hwang, D., Liu, B., Leahy, D. J., Barzilai, N. & Cohen, P. 2008 Functionally significant insulin-like growth factor I receptor mutations in centenarians. Proc. Natl Acad. Sci. USA 105, 3438-3442. (doi:10.1073/pnas.0705467105)
28. Anselmi, C. V., Malovini, A., Roncarati, R., Novelli, V., Villa, F., Condorelli, G., Bellazzi, R. & Puca, A. A. 2009 Association of the FOXO3A locus with extreme longevity in a southern Italian centenarian study. Rejuvenat. Res. 12, 95-104. (doi:10.1089/rej.2008.0827)
29. Flachsbart, F., Caliebe, A., Kleindorp, R., Blanche, H., von Eller-Eberstein, H., Nikolaus, S., Schreiber, S. & Nebel, A. 2009 Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc. Natl Acad. Sci. USA 106, 2700-2705. (doi:10. 1073/pnas.0809594106)
30. Li, Y. et al. 2009 Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations. Hum. Mol. Genet. 18, 4897-4904. (doi:10.1093/hmg/ddp459)
31. Pawlikowska, L. et al. 2009 Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell 8, 460-472. (doi:10.1111/j. 1474-9726.2009.00493.x)
32. Borkan, G. A. & Norris, A. H. 1980 Assessment of biological age using a profile of physical parameters. J. Gerontol. 35, 177-184.
33. Karasik, D., Demissie, S., Cupples, L. A. & Kiel, D. P. 2005 Disentangling the genetic determinants of human aging: Biological age as an alternative to the use of survival measures. J. Gerontol. A Biol. Sci. Med. Sci. 60, 574-587.
34. Ferrucci, L. 2008 The Baltimore Longitudinal Study of Aging (BLSA): A 50-year-long journey and plans for the future. J. Gerontol. A Biol. Sci. Med. Sci. 63, 1416-1419.
35. Lindeman, R. D., Tobin, J. D. & Shock, N. W. 1984 Association between blood pressure and the rate of decline in renal function with age. Kidney Int. 26, 861-868. (doi:10.1038/ki.1984.229)
36. Gerstenblith, G., Frederiksen, J., Yin, F. C., Fortuin, N. J., Lakatta, E. G. & Weisfeldt, M. L. 1977 Echocardiographic assessment of a normal adult aging population. Circulation 56, 273-278.
37. Lindeman, R. D., Tobin, J. & Shock, N. W. 1985 Longitudinal studies on the rate of decline in renal function with age. J. Am. Geriatr. Soc. 33, 278-285.
38. Sorkin, J. D., Andres, R., Muller, D. C., Baldwin, H. L. & Fleg, J. L. 1992 Cholesterol as a risk factor for coronary heart disease in elderly men. The Baltimore longitudinal study of aging. Ann. Epidemiol. 2, 59-67. (doi:10.1016/1047-2797(92)90038-R)
39. Zonderman, A. B., Giambra, L. M., Arenberg, D., Resnick, S. M., Costa Jr, P. T. & Kawas, C. H. 1995 Changes in immediate visual memory predict cognitive impairment. Arch. Clin. Neuropsychol. 10, 111-123.
40. Ferrucci, L., Bandinelli, S., Benvenuti, E., Di Iorio, A., Macchi, C., Harris, T. B. & Guralnik, J. M. 2000 Subsystems contributing to the decline in ability to walk: Bridging the gap between epidemiology and geriatric practice in the InCHIANTI study. J. Am. Geriatr. Soc. 48, 1618-1625.
41. Melzer, D. et al. 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 4, e1000072. (doi:10.1371/journal. pgen. 1000072)
42. Tanaka, T. et al. 2009 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am. J. Hum. Genet. 84, 477-482. (doi:10.1016/j.ajhg.2009.02.011)
43. Tanaka, T. et al. 2010 A genome-wide association analysis of serum iron concentrations. Blood 115, 94-96. (doi:10.1182/blood-2009-07-232496)
44. Martin, I. & Grotewiel, M. S. 2006 Oxidative damage and age-related functional declines. Mech. Ageing Dev. 127, 411-423.
45. Pilia, G. et al. 2006 Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet. 2, e132. (doi:10.1371/journal.pgen. 0020132)
46. de Bree, A., Verschuren,W. M., Blom, H. J., Nadeau, M., Trijbels, F. J. &Kromhout, D. 2003Coronary heart disease mortality, plasma homocysteine, and B-vitamins: A prospective study. Atherosclerosis 166, 369-377.
47. Giovannucci, E., Stampfer, M. J., Colditz, G. A., Hunter, D. J., Fuchs, C., Rosner, B. A., Speizer, F. E. & Willett, W. C. 1998 Multivitamin use, folate, and colon cancer in women in the Nurses' Health Study. Ann. Intern. Med. 129, 517-524.
48. Tanaka, T. et al. 2009 Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet. 5, e1000338. (doi:10.1371/journal. pgen.1000338)
49. Corella, D. et al. 2007 The -256T . C polymorphism in the apolipoprotein A-II gene promoter is associated with body mass index and food intake in the genetics of lipid lowering drugs and diet network study. Clin. Chem. 53, 1144-1152. (doi:10.1373/clinchem.2006.084863)
50. Sun, Q. et al. 2007 A prospective study of trans fatty acids in erythrocytes and risk of coronary heart disease. Circulation 115, 1858-1865. (doi:10.1161/CIRCULATIONAHA. 106.679985)
51. Kerner, B., North, K. E. & Fallin, M. D. 2009 Use of longitudinal data in genetic studies in the genome-wide association studies era: Summary of Group 14. Genet. Epidemiol. 33(Suppl. 1), S93-S98.
52. Luan, J., Kerner, B., Zhao, J. H., Loos, R. J., Sharp, S. J., Muthen, B. O. & Wareham, N. J. 2009 A multilevel linear mixed model of the association between candidate genes and weight and body mass index using the Framingham longitudinal family data. BMC Proc. 3(Suppl. 7), S115. (doi:10.1186/1753-6561-3- s7-s115)
53. Frayling, T. M. et al. 2007 A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889-894. (doi:10.1126/science.1141634)
54. Scuteri, A. et al. 2007 Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet. 3, e115. (doi:10.1371/journal.pgen.0030115)
55. Fraser, H. B., Khaitovich, P., Plotkin, J. B., Paabo, S. & Eisen, M. B. 2005 Aging and gene expression in the primate brain. PLoS Biol. 3, e274. (doi:10.1371/journal. pbio.0030274)
56. Lu, T., Pan, Y., Kao, S. Y., Li, C., Kohane, I., Chan, J. & Yanker, B. A. 2004 Gene regulation and DNA damage in the ageing human brain. Nature 429, 883-891. (doi:10. 1038/nature02661)
57. Tan, Q., Christensen,K., Christiansen, L., Frederiksen, H., Bathum, L., Dahlgaard, J. & Kruse, T. A. 2005 Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins. Hum. Genet. 117, 267-274. (doi:10.1007/s00439-005-1308-x)
58. Segev, F., Mor, O., Segev, A., Belkin, M. & Assia, E. I. 2005 Downregulation of gene expression in the ageing lens: A possible contributory factor in senile cataract. Eye (Lond) 19, 80-85.
59. Melk, A., Mansfield, E. S., Hsieh, S. C., Hernandez- Boussard, T., Grimm, P., Rayner, D. C., Halloran, P. F. & Sarwal,M.M. 2005Transcriptional analysis of themolecular basis of human kidney aging using cDNA microarray profiling. Kidney Int. 68, 2667-2679. (doi:10.1111/j.1523- 1755.2005.00738.x)
60. Rodwell, G. E. et al. 2004 A transcriptional profile of aging in the human kidney. PLoS Biol. 2, e427. (doi:10.1371/journal.pbio.0020427)
61. Giresi, P. G., Stevenson, E. J., Theilhaber, J., Koncarevic, A., Parkington, J., Fielding, R. A. & Kandarian, S. C. 2005 Identification of a molecular signature of sarcopenia. Physiol. Genom. 21, 253-263.
62. Welle, S., Brooks, A. I., Delehanty, J. M., Needler, N., Bhatt, K., Shah, B. & Thornton, C. A. 2004 Skeletal muscle gene expression profiles in 20-29 year old and 65-71 year old women. Exp. Gerontol. 39, 369-377. (doi:10.1016/j.exger.2003.11.011)
63. Zahn, J. M. et al. 2006 Transcriptional profiling of aging in human muscle reveals a common aging signature. PLoS Genet. 2, e115. (doi:10.1371/journal.pgen. 0020115)
64. Lener, T., Moll, P. R., Rinnerthaler, M., Bauer, J., Aberger, F. & Richter, K. 2006 Expression profiling of aging in the human skin. Exp. Gerontol. 41, 387-397. (doi:10.1016/j.exger.2006.01.012)
65. Kim, S. K. 2008 Genome-wide views of aging gene networks. Molecular Biology of Aging Monograph 9. Cold Spring Harbor, CT: Cold Spring Harbor Laboratory Press.
66. Zahn, J. M. & Kim, S. K. 2007 Systems biology of aging in four species. Curr. Opin. Biotechnol. 18, 355-359. (doi:10.1016/j.copbio.2007.07.004)
67. Harman, D. 1956 Aging: A theory based on free radical and radiation chemistry. J. Gerontol. 11, 298-300.
68. Lapointe, J. & Hekimi, S. 2010 When a theory of aging ages badly. Cell Mol. Life Sci. 67, 1-8. (doi:10.1007/ s00018-009-0138-8)
69. Subramanian, A. et al. 2005 Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl Acad. Sci. USA 102, 15 545-15 550. (doi:10.1073/pnas.0506580102)
70. Hauser, M. A. et al. 2003 Genomic convergence: Identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. Hum. Mol. Genet. 12, 671-677. (doi:10.1093/ hmg/12.6.671)
71. Le-Niculescu, H. et al. 2007 Towards understanding the schizophrenia code: An expanded convergent functional genomics approach. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144, 129-158.
72. Liang, X. et al. 2009 Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10. Hum. Mutat. 30, 463-471. (doi:10.1002/humu. 20953)
73. Wheeler, H. E. et al. 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet. 5, e1000685. (doi:10.1371/ journal.pgen.1000685)
74. Jormsjo, S., Whatling, C., Walter, D. H., Zeiher, A. M., Hamsten, A. & Eriksson, P. 2001 Allele-specific regulation of matrix metalloproteinase-7 promoter activity is associated with coronary artery luminal dimensions among hypercholesterolemic patients. Arterioscler. Thromb. Vasc. Biol. 21, 1834-1839. (doi:10.1161/ hq1101.098229)
75. Abrass, C. K., Adcox, M. J. & Raugi, G. J. 1995 Agingassociated changes in renal extracellular matrix. Am. J. Pathol. 146, 742-752.
76. Kirkwood, T. B. & Austad, S. N. 2000 Why do we age? Nature 408, 233-238. (doi:10.1038/35041682)
77. Pushkarev, D., Neff, N. F. & Quake, S. R. 2009 Singlemolecule sequencing of an individual human genome. Nat. Biotechnol. 27, 847-852. (doi:10.1038/nbt.1561)
78. Wheeler, D. A. et al. 2008 The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876. (doi:10.1038/ nature06884)
79. Zhu, X., Feng, T., Li, Y., Lu, Q. & Elston, R. C. 2009 Detecting rare variants for complex traits using family and unrelated data. Genet. Epidemiol. 34, 171-187. (doi:10.1002/gepi.20449)
80. Li, B. & Leal, S. M. 2008 Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. Am. J. Hum. Genet. 83, 311-321. (doi:10.1016/j.ajhg.2008.06.024)
81. Guo, W. & Lin, S. 2009 Generalized linear modeling with regularization for detecting common disease rare haplotype association. Genet. Epidemiol. 33, 308-316. (doi:10.1002/gepi.20382)
82. Novelli, V., Viviani Anselmi,C., Roncarati, R.,Guffanti,G., Malovini, A.,Piluso, G.&Puca, A. A. 2008Lack of replication of genetic associations with human longevity. Biogerontology 9, 85-92. (doi:10.1007/s10522-007-9116-4)