Mapping Nucleotide Sequences that Encode Complex Binary Disease Traits with HapMap
2007

Mapping Genetic Variants for Complex Diseases Using HapMap

Sample size: 552 publication Evidence: moderate

Author Information

Author(s): Cui Yuehua, Fu Wenjiang, Sun Kelian, Romero Roberto, Wu Rongling

Primary Institution: Michigan State University

Hypothesis

Can a generalized linear model effectively identify nucleotide variants associated with complex human diseases?

Conclusion

The study presents a novel model that successfully identifies genetic variants associated with complex binary diseases, demonstrating its utility in a case study of large for gestational age neonates.

Supporting Evidence

  • The model provides a powerful tool for elucidating the genetic basis of complex binary diseases.
  • Simulation studies indicate that the model has reasonable power and type I error rates.
  • Significant binary trait nucleotides were detected in association with large for gestational age neonates.

Takeaway

This study helps scientists find specific DNA changes that can cause complex diseases by looking at genetic data from many people.

Methodology

The study uses a generalized linear model and a two-stage estimation procedure based on the expectation-maximization algorithm to analyze genetic data.

Potential Biases

Potential bias may arise from the assumption of known haplotypes and the use of tag SNPs.

Limitations

The model's effectiveness is limited by the availability of complete functional sequence variant information in candidate regions.

Participant Demographics

The study involved 552 unrelated maternal individuals aged 13 to 45 years, with 117 cases and 435 controls.

Statistical Information

P-Value

0.024

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.2174/138920207782446188

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