Genome-wide association studies in kidney diseases: Quo Vadis

A genome-wide association (GWA) study is a genetic epidemiology approach designed to scan genetic variation across the entire human genome in order to identify genetic associations with phenotypic traits as well as the presence or absence of a disease. Hundreds of thousands of single-nucleotide polymorphisms (SNPs), the most common form of genetic variant, serve as markers. SNPs are assayed and related to diseases or health-related conditions applying bioinformatics algorithms. This has become feasible thanks to the recent technological improvements in the so-called high-throughput technologies. The analysis identifies regions (loci) with statistically significant differences in allele or genotype frequencies between cases and controls and so the variations are said to be ‘associated’ with the disease