Research results between the opening of the SRC and December 2001

July 20, 2002 NEWS

SRC was established with the objective of discovering genes associated with common disease from statistical analyses of large volumes of SNP typing data. In the first two years after the opening, SRC focused on establishing platform technologies, especially rapid, high-throughput SNP typing systems.

Having obtained informed consent in compliance with national guidelines, the other laboratories researching genes associated with common disease are collecting patient samples in collaboration with medical institutions, gathering samples from several hundred or several thousand cases for each common disease.

The Laboratory for Genotyping analyze SNPs in samples collected by the other laboratories researching genes associated with common disease. The Laboratory had completed analyze 23 million SNPs and had discovered around ten SNP types for each disease under study that exhibit statistically significant correlations (p<0.0001). With some of these SNPs, the gene polymorphism has been shown to directly affect the quality and quantity of gene product and such SNPs are considered to be promising candidates for genes associated with common disease. In addition, the Laboratory is screening SNPs in genes encoding for around 200 types of drug receptors, drug transporters, and drug metabolizing enzymes that are possibly involved in drug response and common disease. So far the Laboratory has completed screening around 180 types of genes and has identified 6,000 SNPs (Identification of SNPs in genes associated with drug metabolizing enzymes).

The Laboratory for Medical Informatics is working to support the other laboratories researching genes associated with common disease. First, the Laboratory is constructing fully automated systems that integrate data flow (plotting new data from SNP typing assays, updating SNP typing results, statistical testing of experimental assays, identifying candidate SNPs from correlation analyses, mapping on a genome database). Second, it is trying to develop a design to investigate environmental and compound factors. Third, it is developing systems to organize information about genes and SNPs associated with common disease, and drug responsiveness which may represent the relationship between the SNPs and symptoms/side effects.

The Laboratory for Genotyping and the other laboratories have collaborated to improve the technologies used to analyze genetic polymorphism and investigated various analytical procedures. As a result, we have developed a system that can analyze some 450,000 SNPs per day (around 100 million SNPs per year), by combining Multiplex PCR with the Invader SNP analysis method (Development of the fastest SNP typing system in the world).