Table 1 Criteria for Evaluating Genetic Association Studies
Elements | Comment |
|---|---|
SNP Discovery and Genotyping (Completeness) | SNP discovery and genotyping of a gene should be complete (based on current literature AND re-sequencing of the gene in a subgroup of the population studied). |
Haplotype Analysis | Haplotype analyses should be reported. |
Population Size | Size should be large enough to have reasonable power to avoid both false negative and false positive results |
Matching Cases and Controls | Appropriate matching is always a consideration |
Population Stratification | Population stratification should always be addressed (in some manner) |
Phenotype Definition | The best genetic association studies employ a robust definition of the phenotype (i.e. a physician's diagnosis of asthma is much less robust than one based on physiologic and clinical criteria) |
Multiple Testing (Comparisons) Inter-Related Phenotypes | Issue of multiple testing must always be addressed, while acknowledging that some phenotypes are inter-related (and not independent), and Bonferroni correction may be too conservative |
Replication and Role of Functional Studies | Replication is necessary unless it cannot be reasonably performed. In some cases, functional studies substitute for replication |