A polygenic basis for late-onset disease

Trends in Genetics

Volumn 19, Issue 2, 2003, Pages 97-106

  Wright, Alan ^a   Charlesworth, Brian ^b   Rudan, Igor ^b,c   Carothers, Andrew ^a   Campbell, Harry ^b  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF ZAGREB   (Croatia)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELISM; ENVIRONMENTAL CHANGE; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPOTHESIS; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; REVIEW; SYSTEMIC DISEASE;

AGE OF ONSET; ALLELES; ANIMALS; ARTERIOSCLEROSIS; ENVIRONMENT; GENETICS, POPULATION; HUMANS; KINETICS; MULTIFACTORIAL INHERITANCE; MUTATION; PHENOTYPE; QUANTITATIVE TRAIT, HERITABLE; VARIATION (GENETICS);

EID: 0037303468     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(02)00033-1     Document Type: Review

References (64)

1. Barton N.H., Keightley P.D. Understanding quantitative genetic variation. Nat. Rev. Genet. 3:2002;11-21.
2. Lander E.S. The new genomics: global views of biology. Science. 274:1996;536-539.
3. Wright A.F., et al. Population choice in mapping genes for complex diseases. Nat. Genet. 23:1999;397-404.
4. Kaessmann H., et al. Extensive nuclear DNA sequence diversity among chimpanzees. Science. 286:1999;1159-1162.
5. Sachidanandam R., et al. A map of human sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 409:2001;928-933.
6. Przeworski M., et al. Adjusting the focus on human variation. Trends Genet. 16:2000;296-302.
7. Kruglyak L., Nickerson D.A. Variation is the spice of life. Nat. Genet. 27:2001;234-236.
8. Zwick M.E., et al. Patterns of genetic variation in Mendelian and complex traits. Annu. Rev. Genomics Hum. Genet. 1:2000;387-407.
9. Kimura M. Theoretical foundations of population genetics at the molecular level. Theor. Popul. Biol. 2:1971;174-208.
10. Lynch M., et al. Perspective: spontaneous deleterious mutation. Evolution. 53:1999;645-663.
11. Reich D.E., Lander E.S. On the allelic spectrum of human disease. Trends Genet. 17:2001;502-510.
12. Wright A.F., Hastie N.D. Complex genetic diseases: controversy over the Croesus code. Genome Biol. 2:2001;2007.
13. Healey C.S., et al. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Nat. Genet. 26:2000;362-364.
14. Fay J.C., et al. Positive and negative selection on the human genome. Genetics. 158:2001;1227-1234.
15. Sunyaev S., et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 10:2001;591-597.
16. Fisher R.A. The Genetical Theory of Natural Selection. 1930;Oxford University Press.
17. Medawar P.B. Old age and natural death. Mod. Quart. 1:1946;30-56.
18. Williams G.C. Pleiotropy, natural selection and the evolution of senescence. Evolution. 11:1957;398-411.
19. Partridge L., Gems D. Mechanisms of ageing: public or private? Nat. Rev. Genet. 3:2002;165-175.
20. Charlesworth B., Hughes K.A. Age-specific inbreeding depression and components of genetic variance in relation to the evolution of senescence. Proc. Natl Acad. Sci. U.S.A. 93:1996;6140-6145.
21. Charlesworth B. Patterns of age-specific means and genetic variances of mortality rates predicted by the mutation accumulation theory of ageing. J. Theor. Biol. 210:2001;47-65.
22. Mueller L.D., Rose M.R. Evolutionary theory predicts late-life mortality plateaus. Proc. Natl Acad. Sci. U.S.A. 93:1996;15249-15253.
23. Shaw F.H., et al. Toward reconciling inferences concerning genetic variation in senescence in Drosophila melanogaster. Genetics. 152:1999;553-566.
24. Hughes K.A., et al. A test of evolutionary theories of aging. Proc. Natl Acad. Sci. U.S.A. 99:2002;14286-14291.
25. Perls T., et al. The genetics of aging. Curr. Opin. Genet. Dev. 12:2002;362-369.
26. Simmons M.J., Crow J.F. Mutations affecting fitness in Drosophila populations. Annu. Rev. Genet. 11:1977;49-78.
27. Charlesworth B., Hughes K.A. The maintenance of genetic variation in life-history traits. Singh R.S., Krimbas C.B. Evolutionary Genetics: From Molecules to Morphology. Vol. 1:1999;369-392 Cambridge University Press.
28. Kimura M. The Neutral Theory of Molecular Evolution. 1983;Cambridge University Press.
29. Keightley P.D., Hill W.G. Variation maintained in quantitative traits with mutation-selection balance: pleiotropic side-effects on fitness traits. Proc. R. Soc. Lond. Ser. B. B242:1990;95-100.
30. Kruuk L.E.B., et al. Heritability of fitness in a wild mammal population. Proc. Natl Acad. Sci. U.S.A. 97:2000;698-703.
31. Nachman M.W., Crowell S.L. Estimate of the mutation rate per nucleotide in humans. Genetics. 156:2000;297-304.
32. Kondrashov A.S. Sex and U. Trends Genet. 17:2001;75-77.
33. Kleinjan D.A., et al. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum. Mol. Genet. 10:2001;2049-2059.
34. McKenzie C.A., et al. Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum. Mol. Genet. 10:2001;1077-1084.
35. Vafiadis P., et al. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat. Genet. 15:1997;289-292.
36. Gabriel S.B., et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat. Genet. 31:2002;89-93.
37. Lloyd-Jones D.M., et al. Lifetime risk of developing coronary heart disease. Lancet. 353:1999;89-92.
38. Hopkins P.N., Williams R.R. Identification and relative weight of cardiovascular risk factors. Cardiol. Clin. 4:1986;3-31.
39. Hayes B., Goddard M.E. The distribution of the effects of genes affecting quantitative traits in livestock. Genet. Sel. Evol. 33:2001;209-230.
40. Rudan I., et al. Inbreeding and the genetic complexity of human hypertension. Genetics. 2002;. in press.
41. Rose G. The Strategy of Preventive Medicine. 1992;Oxford University Press.
42. Law M.R., Wald N.J. Risk factor thresholds: their existence under scrutiny. Br. Med. J. 324:2002;1570-1576.
43. Charlton J., Murphy M. The Health of Adult Britain 1841-1994. 1997;HMSO.
44. Ravussin E., et al. Effects of a traditional lifestyle on obesity in Pima Indians. Diabetes Care. 17:1994;1067-1074.
45. Neel J.V. Diabetes mellitus: a 'thrifty' genotype rendered detrimental by progress? Am. J. Hum. Genet. 14:1962;353-362.
46. Björntorp P. Thrifty genes and human obesity. Are we chasing ghosts? Lancet. 358:2001;1006-1008.
47. Hamblin M.T., et al. Complex signatures of natural selection at the Duffy blood group locus. Am. J. Hum. Genet. 70:2002;369-383.
48. Slatkin M., Rannala B. Estimating allele age. Annu. Rev. Genomics Hum. Genet. 1:2000;225-249.
49. Merriman T.R., Todd J.A. Genetics of autoimmune disease. Curr. Opin. Immunol. 7:1995;786-792.
50. Reich D.E., et al. Linkage disequilibrium in the human genome. Nature. 411:2001;199-204.
51. Patil N., et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science. 294:2001;1719-1723.
52. Lee C. Irresistible force meets immovable object: SNP mapping of complex diseases. Trends Genet. 18:2002;67-69.
53. Crow J.F. Mutation, mean fitness and genetic load. Oxf. Surv. Evol. Biol. 9:1993;3-42.
54. Weiss K.M., Terwilliger J.D. How many diseases does it take to map a gene with SNPs? Nat. Genet. 26:2000;151-157.
55. Abney M., et al. Quantitative-trait homozygosity and association mapping and empirical genomewide significance in large, complex pedigrees: fasting serum-insulin level in the Hutterites. Am. J. Hum. Genet. 70:2002;920-934.
56. Dahlman I., et al. Parameters for reliable results in genetic association studies in common disease. Nat. Genet. 30:2002;149-150.
57. Gu C., Rao D.C. Optimum study designs. Adv. Genet. 42:2001;439-457.
58. Flint J., Mott R. Finding the molecular basis of quantitative traits: successes and pitfalls. Nat. Rev. Genet. 2:2001;437-445.
59. McKeigue P.M. Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture. Am. J. Hum. Genet. 63:1998;241-251.
60. Wright A.F., et al. Gene-environment interactions - the BioBank UK study. Pharmacogenomics J. 2:2002;75-82.
61. Visscher P.M., Haley C.S. Detection of putative quantitative trait loci in line crosses under infinitesimal genetic models. Theor. Appl. Genet. 93:1996;691-702.
62. Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69:2001;124-137.
63. Stevenson A.C., Kerr C.B. On the distribution of frequencies of mutation in genes determining harmful traits in man. Mutat. Res. 4:1967;339-352.
64. Vogel F., Motulsky A.G. Human Genetics. 1986;Springer-Verlag.