Statistical analysis of genetic polymorphisms in epidemiological studies

Abstract

Analysis of genetic polymorphisms allows the genes that confer susceptibility to diseases to be analyzed. This paper presents the nomenclature used in genetic epidemiology literature and a basic strategy for statistical analysis of epidemiological studies that use genetic markers. First, a descriptive analysis of a single nucleotide polymorphism is presented, with assessment of Hardy-Weinberg equilibrium. Next, methods to assess the association with disease are presented. To do this, logistic regression models are used and alternative models of inheritance are explored. Finally, methods for the simultaneous analysis of multiple polymorphisms are presented: haplotype frequency estimation and analysis of disease association.