A powerful and robust test in genetic association studies

Kuang Fu Cheng, Jen Yu Lee

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

There are several well-known single SNP tests presented in the literature for detecting gene-disease association signals. Having in place an efficient and robust testing process across all genetic models would allow a more comprehensive approach to analysis. Although some studies have shown that it is possible to construct such a test when the variants are common and the genetic model satisfies certain conditions, the model conditions are too restrictive and in general difficult to verify. In this paper, we propose a powerful and robust test without assuming any model restrictions. Our test is based on the selected 2 × 2 tables derived from the usual 2 × 3 table. By signals from these tables, we show through simulations across a wide range of allele frequencies and genetic models that this approach may produce a test which is almost uniformly most powerful in the analysis of low- and high-frequency variants. Two cancer studies are used to demonstrate applications of the proposed test.

Original languageEnglish
Pages (from-to)38-46
Number of pages9
JournalHuman Heredity
Volume78
Issue number1
DOIs
Publication statusPublished - 2014

Fingerprint

Genetic Models
Genetic Association Studies
Gene Frequency
Single Nucleotide Polymorphism
Genes
Neoplasms

Keywords

  • Association test
  • Genetic model
  • Power
  • Robustness
  • SNP

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

A powerful and robust test in genetic association studies. / Cheng, Kuang Fu; Lee, Jen Yu.

In: Human Heredity, Vol. 78, No. 1, 2014, p. 38-46.

Research output: Contribution to journalArticle

Cheng, Kuang Fu ; Lee, Jen Yu. / A powerful and robust test in genetic association studies. In: Human Heredity. 2014 ; Vol. 78, No. 1. pp. 38-46.
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