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Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 5, Zeilen: 8-26
Quelle: Lou 2008
Seite(n): 6-7, Zeilen: 6:4-18.20-21-7:1-3
The association test can be more powerful than the linkage test, and it requires fewer samples than linkage analysis to achieve the same power for common complex diseases (Risch and Merikangas, 1996).

Association analysis tests whether the disease and marker alleles are in LD. Disease phenotypes are used for association analyses instead of disease loci since, in general, the disease loci are unknown (Weiss and Terwilliger, 2000). LD generally spans only small distances, and the markers used for association analysis are often very tightly spaced. Therefore, association analysis provides a higher resolution for locating disease genes than linkage analysis. A common strategy for identifying complex disease genes is to conduct linkage analyses first and then follow significant results with tests for association at a denser panel of markers in an attempt to further localize the disease gene (Cardon and Bell, 2001).

Two main categories of statistical methods, population-based (case-control and case cohort studies) and family-based studies, are often used for association analysis (Laird and Lange, 2006). Population-based analysis requires samples to be independently collected. It compares the differences of distributions of allele frequencies between the affected individuals (cases) and unaffected individuals (controls) (Risch, 2000). A contingency table can be created and the Pearson chi-squared statistic or [Fisher’s exact test can be used to test for association.]


Cardon, L. R. & Bell, J. I. (2001) Association study designs for complex diseases. Nat Rev Genet, 2(2): 91–99.

Laird, N. M. & Lange, C. (2006) Family-based designs in the age of large-scale gene-association studies. Nat Rev Genet, 7(5): 385–394.

Risch, N. & Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science, 273(5281): 1516–1517.

Risch, N. J. (2000) Searching for genetic determinants in the new millennium. Nature, 405: 847–856.

Weiss, K. M. & Terwilliger, J. D. (2000) How many diseases does it take to map a gene with SNPs? Nat Genet, 26(2): 151–157.

[Page 6]

The association test can be more powerful than the linkage test, and it requires fewer samples than linkage analysis to achieve the same power for common complex diseases (Risch & Merikangas 1996).

Association analysis tests whether the disease and marker alleles are in linkage disequilibrium (LD). Disease phenotypes are used for association analyses instead of disease loci since, in general, the disease loci are unknown (Weiss & Terwilliger 2000). LD generally spans only small distances, and the markers used for association analysis are often very tightly spaced. Therefore, association analysis provides a higher resolution for locating disease genes than linkage analysis. A very common strategy in the past for identifying complex disease genes is to conduct linkage analyses first and then follow significant results with tests for association at a denser panel of markers in an attempt to further localize the disease gene (Cardon & Bell 2001).

In the terms of samples, there are two types of statistical methods for association analysis, population-based (case-control and case-cohort studies) and family-based studies (Laird & Lange 2006).

1.3.1 Population-based association analysis

Population-based analysis requires samples to be independently collected. It compares the differences of distributions of allele frequencies between the affected individuals (cases)

[Page 7]

and unaffected individuals (controls) (Risch 2000). A contingency table can be created and the Pearson chi-squared statistic or Fisher’s exact test can be used to test for association.


Cardon, L. R., and J. I. Bell, 2001 Association study designs for complex diseases. Nat.Rev.Genet. 2: 91-99.

Laird, N. M., and C. Lange, 2006 Family-based designs in the age of large-scale gene-association studies. Nat.Rev.Genet. 7: 385-394.

Risch, N., and K. Merikangas, 1996 The future of genetic studies of complex human diseases. Science 273: 1516-1517.

Risch, N. J., 2000 Searching for genetic determinants in the new millennium. Nature 405: 847-856.

Weiss, K. M., and J. D. Terwilliger, 2000 How many diseases does it take to map a gene with SNPs? Nature Genetics 26: 151-157.

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