A short history of the genome-wide association study: where we were and where we are going

Abstract

Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual's genome information is utilized for clinical practice. The most spectacular results of the human genome study have been provided by genome-wide association studies (GWASs). This is a review of the history of GWASs as related to my work. Further efforts are necessary to make full use of its potential power to medicine.

Keywords: HapMap Project; Human Genome Project; genome; genome-wide association study; single-nucleotide polymorphism.

Fig. 1

Structure of genome-wide association study. It consists of 3 steps: phenotyping (recruitment of cases and controls), genotyping (typing of single-nucleotide polymorphisms [SNPs] of individual subjects), and mapping (statistical analysis to determine linkage disequilibrium block).

Fig. 2

Gene structure of DVWA and its computer prediction. LOC344875: a predicted gene in the public database. DVWA has two major alternative splicing forms: long (L-) and short (S-) DVWA. White box: untranslated region, black box: coding region. Dotted line indicates matching of the position.

Fig. 3

Real value of genome-wide association study (GWAS). A GWAS is useful for diagnosis and treatment.