An Evolutionary Framework for Common Disease

Abstract

Susceptibility alleles for common diseases are a subset of all natural genetic variation; as such they are jointly shaped by random drift and natural selection. Computer simulation and empirical studies show that models of purifying selection and adaptive evolution apply to risk alleles for common diseases. These models have important implications for the design of diseaseā€mapping studies.

Keywords: disease association studies; allele frequency spectrum; genetic variation; natural selection

References

Ahituv N, Kavaslar N, Schackwitz W et al. (2007) Medical sequencing at the extremes of human body mass. American Journal of Human Genetics 80: 779–791.

Azevedo L, Suriano G, Van Asch B, Harding RM and Amorim A (2006) Epistatic interactions: how strong in disease and evolution? Trends in Genetics 22: 581–585.

Cohen JC, Kiss RS, Pertsemlidis A et al. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305: 869–872.

Di Rienzo A and Hudson RR (2005) An evolutionary framework for common diseases: the ancestral‐susceptibility model. Trends in Genetics 21: 596–601.

Easton DF, Pooley KA, Dunning AM et al. (2007) Genome‐wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087–1093.

Fearnhead NS, Wilding JL, Winney B et al. (2004) Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proceedings of the National Academy of Sciences of the USA 101: 15992–15997.

Fridlyand LE and Philipson LH (2006) Cold climate genes and the prevalence of type 2 diabetes mellitus. Medical Hypotheses 67: 1034–1041.

Gao L and Zhang J (2003) Why are some human disease‐associated mutations fixed in mice? Trends in Genetics 19: 678–681.

Gibbs RA, Rogers J, Katze MG et al. (2007) Evolutionary and biomedical insights from the rhesus macaque genome. Science 316: 222–234.

Gleibermann L (1973) Blood pressure and dietary salt in human populations. Ecology of Food and Nutrition 2: 143–156.

Helgason A, Palsson S, Thorleifsson G et al. (2007) Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nature Genetics 39: 218–225.

Hunter DJ, Kraft P, Jacobs KB et al. (2007) A genome‐wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nature Genetics 39: 870–874.

Kryukov GV, Pennacchio LA and Sunyaev SR (2007) Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. American Journal of Human Genetics 80: 727–739.

Lohmueller KE, Pearce CL, Pike M, Lander ES and Hirschhorn JN (2003) Meta‐analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genetics 33: 177–182.

Neel JV (1962) Diabetes mellitus: a ‘thrifty’ genotype rendered detrimental by ‘progress’? American Journal of Human Genetics 14: 353–362.

Pritchard JK (2001) Are rare variants responsible for susceptibility to complex diseases? American Journal of Human Genetics 69: 124–137.

Reich DE and Lander ES (2001) On the allelic spectrum of human disease. Trends in Genetics 17: 502–510.

Rioux JD, Xavier RJ, Taylor KD et al. (2007) Genome‐wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nature Genetics 39: 596–604.

Romeo S, Pennacchio LA, Fu Y et al. (2007) Population‐based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nature Genetics 39: 513–516.

Thompson EE, Kuttab‐Boulos H, Witonsky D et al. (2004) CYP3A variation and the evolution of salt‐sensitivity variants. American Journal of Human Genetics 75: 1059–1069.

Young JH, Chang YP, Kim JD et al. (2005) Differential susceptibility to hypertension is due to selection during the out‐of‐Africa expansion. Public Library of Science Genetics 1: e82.

Further Reading

Jobling MA, Hurles ME and Tyler‐Smith C (2004) Health implications of our evolutionary heritage. In: Human Evolutionary Genetics, pp. 439–471. New York/Abingdon: Garland Science.

Ramachandran S, Deshpande O, Roseman CC et al. (2005) Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proceeding of the National Academy of Sciences of the USA 102: 15942–15947.

Sabeti P (2006) Positive natural selection in the human lineage. Science 312: 1614–1620.

The Chimpanzee Sequencing and Analysis Consortium (2005) Initial sequence of the chimpanzee genome and comparison with the human genome. Nature 437: 69–87.

The Wellcome Trust Case Control Consortium (2007) Genome‐wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661–678.

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How to Cite close
Luca, Francesca, and Di Rienzo, Anna(Dec 2007) An Evolutionary Framework for Common Disease. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020758]