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Validate new risk loci for Graves disease

1st April 2013


Fluidigm Corporation has announced that Rujin Hospital in Shanghai, China, has used the company's integrated fluidic circuits (IFCs) to help validate two new susceptibility loci for Graves' disease.

Researchers applied the unique properties of the Fluidigm 96.96 Dynamic Array IFC and the EP1 System to re-genotype selected SNPs for the replication study.

In a paper entitled A genome-wide association study identifies two new risk loci for Graves' disease, published in the August 14, 2011 issue of Nature Genetics Magazine, researchers confirmed four previously reported loci and identified two new susceptibility loci for Graves' disease. Graves' disease is a common autoimmune disorder characterised by thyroid stimulating hormone receptor autoantibodies and hyperthyroidism.

To investigate the genetic architecture of Graves' disease, Rujin Hospital researchers conducted a genome-wide association study in 1,536 individuals with Graves' disease (cases) and 1,516 controls. They further evaluated a group of associated SNPs in a second set of 3,994 cases and 3,510 controls. All samples were recruited from the Chinese Han population through collaboration with hospitals in China.

"The Fluidigm EP1 microfluidic genetic analysis system proved to be a powerful tool for SNP genotyping validation research in our GWAS project," noted Dr. Chun-Ming Pan of the State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine. "The EP1 enabled us to easily set up 9,216 PCR experiments at a time without using a robot. Within four hours we acquired almost 10,000 data points with outstanding reproducibility and accuracy. The nanoliter-level reaction chambers of Fluidigm chips resulted in significant cost savings, as we needed to only use minute amounts of the expensive SNP genotyping reagents. For us, the EP1 is an ideal platform for our GWAS research," concluded Dr. Pan.

"There is world-class science being conducted in China and Rujin Hospital's important work in Graves' disease research is a great example of it," said Gajus Worthington, Fluidigm president and chief executive officer. "Fluidigm is proud to have contributed to their discoveries through the use of our genotyping systems, and there is more to come. We now have more than a dozen systems in use within China, at some of the country's leading research laboratories. We believe this is just the beginning and that our technology can play a significant and broad role in enabling China's life science researchers."

GWAS was performed on a microarray system at the Chinese National Human Genome Center in Shanghai, China. In stage 2, 100 SNPs were selected for the replication study. Among them, 96 SNPs were genotyped using TaqMan™ SNP Genotyping Assays using the Fluidigm 96.96 Dynamic Array IFC and EP1 platform.

For more information, visit www.fluidigm.com




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