Sequenom said this week that its MassArray system has been used in the identification of a novel association between the HNF4A gene and type 2 diabetes, which was published in the April 2004 issue of Diabetes.
The study, entitled “Genetic Variation Near the Hepatocyte Nuclear Factor-4A Gene Predicts Susceptibility to Type 2 Diabetes,” was conducted by a team from the US, The UK, and Finland led by NHGRI director Francis Collins, as part of the Finland-United States Investigation Of NIDDM Genetics (FUSION) study. In this study, researchers are studying sibling pair families from Finland in an effort to identify genetic variants that predispose to type 2 diabetes.
The group surveyed a set of families and found a high degree of linkage on Chromosome 20, at 20q13. The group then used the MassArray to genotyped SNP markers in this area in pools of case and controls. The strongest association proved to be with a SNP 1.3 kb downstream of the primary ß-cell promoter P2 of HNF4A. They also found nine additional associated SNPS over 64 kb.
The Sequenom technology enabled the researchers to quickly profile between 30,000 and 100,000 SNPs, and narrow it down to two to five snps, then follow up with individual genotyping, said Robin Jackman, the company’s vice president of corporate development. “This gives you the power to reach much further than you would do normally if you were just doing pure genotyping,” he said.