Candidate Gene

Synonyms

Genome-wide association studies; Positional candidate gene approach; Putative candidate gene

Definition

A candidate gene is gene which is presumed to be associated with a particular disease or a phenotypic trait, whose biological function(s) is derived either directly or indirectly from other studies including animal model studies with other species (using comparative genomic studies), genome-wide association studies (GWAS), classical map-based positional cloning method, and a more recent next-generation sequencing (NGS) methods.

Introduction

Identification of certain genes with known function causal for diseases, (e.g., MSH2 and MLH1causing colon carcinoma) evolved the candidate gene approach in disease biology. Further candidate genes were discovered by either direct screening of genes in a biochemical pathway with known related functions associated with the pathogenesis of the disease (PKU, AKU), or indirectly derived from the animal model studies (e.g., DFBN3 deafness...