An Introduction to Basic Statistical Models in Genetics

Abstract

The use of the three genetic models viz. additive, dominant and recessive in Genome-wide association study (GWAS) is a common and powerful approach to study the association between genetic variants and a trait (disease). The selection of these models depends on the pattern of inheritance and the scope of the study. GWAS typically focuses on single-nucleotide polymorphism (SNPs) and common human diseases in a case-control setup. In order to study this type of association between the risk genotype and the phenotype for a given inheritance pattern, the use of these genetic models helps to identify the disease risk appropriately. This study provides an overview of the existing genetic models (additive, dominant and recessive) and a practical demonstration of these model tests for the contingency tables of SNP genotypes and the disease phenotypes in a case-control setting.