Linkage and Association Studies

Abstract

Identification of genetic factors underlying predisposition to complex human diseases has relied on linkage studies to map the relevant loci and on association studies to evaluate the putative role of specific genetic variants on the risk for disease or on levels of quantitative risk factors. While both approaches seek an association between a genetic sequence and a phenotype of interest, their respective utility and power depend on the specific problem.

Keywords: lod scores; nonparametric linkage; case–control studies; transmission disequilibrium test; genome scans; candidate genes

Figure 1.

Measured factors are in boxes, unmeasured factors are in circles. The correlation to be tested in each case is shown with the dotted line. D: disease; G: gene; M: marker.

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References

Borecki IB and Suarez BK (2001) Linkage and association: basic concepts. In: Rao DC and Province MA (eds.) Genetic Dissection of Complex Traits, pp. 45–66. San Diego, CA: Academic Press.

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Further Reading

Altmueller J, Palmer LJ, Fischer G, Scherb H and Wijst M (2001) Genomewide scans of complex human diseases: true linkage is hard to find. American Journal of Human Genetics 69: 936–950.

Hirschhorn JN, Lohmueller K, Byrne E and Hirschhorn K (2002) A comprehensive review of genetic association studies. Genetics in Medicine 4: 45–61.

Nordberg M and Tavare S (2002) Linkage equilibrium: what history has to tell us. Trends in Genetics 18: 83–90.

Ott J (1999) Analysis of Human Genetic Linkage, 3rd edn. Baltimore, MD: Johns Hopkins University Press.

Rao DC and Province MA (eds.) (2001) Genetic Dissection of Complex Traits. San Diego, CA: Academic Press.

Tabor HK, Risch NJ and Myers RM (2002) Candidate‐gene approaches for studying complex genetic traits: practical considerations. Nature Reviews Genetics 3: 391–397.

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How to Cite close
Borecki, Ingrid B(Jul 2006) Linkage and Association Studies. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005483]