Modeling the effect of an associated single-nucleotide polymorphism in linkage studies
2005

Modeling SNP Effects in Linkage Studies

publication Evidence: moderate

Author Information

Author(s): Houwing-Duistermaat Jeanine J, Uh Hae-Won, Lebrec Jeremie JP, Putter Hein, Hsu Li

Primary Institution: Leiden University Medical Center

Hypothesis

Does the associated single-nucleotide polymorphism partly explain the original linkage peak?

Conclusion

SNP B03T3056 only partly explains the original linkage peak, and other unknown genetic factors are likely present.

Supporting Evidence

  • The study applied methods to three SNPs and five microsatellite markers.
  • SNP B03T3056 was significantly associated with the disease.
  • Including the number of risk alleles increased the LOD score significantly.

Takeaway

The study looked at whether a specific genetic marker helps explain a genetic link to a disease. It found that while it does help a little, there are likely other factors involved.

Methodology

A regression model was used to analyze the relationship between SNP genotypes and linkage signals in affected sibling pairs.

Limitations

The analysis does not support the hypothesis of residual linkage, and more research is needed to understand the observed phenomena.

Statistical Information

P-Value

0.02

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-6-S1-S46

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