Genetic Risk Factors Associated with Lou Gehrig's Disease

Thirty-four unique variations in the human genetic code were identified and may explain the underlying factors that contribute to amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease.

Under the direction of John Hardy, Ph.D. and Bryan Traynor, M.D., from the U.S. National Institute on Aging's Laboratory of Neurogenetics (Bethesda, MD, USA) and the Section on Developmental Genetic Epidemiology, U.S. National Institute of Mental Health (Bethesda, MD, USA), Illumina's (San Diego, CA, USA) HumanHap550 BeadChip was used to produce more than 300 million genotypes in a search for those single nucleotide polymorphisms (SNPs) that increase risk for ALS. ALS fatally attacks 10,000 Americans each year with an estimated one in 1,000 people is at risk of developing the disease.

A key goal of our product development efforts is to provide backwards compatibility for our customers. This means that as we develop new generations of products, current customers have the seamless ability to achieve the same level of content as found on the new BeadChip, said Carsten Rosenow, DNA analysis marketing manager. For example the HumanHap240S and HumanHap450S BeadChips give researchers the opportunity to upgrade from the HumanHap300 and HumanHap550 respectively, obtaining the same level of content as found on the HumanHap550 and Human 1M.

We recognize the importance of developing technologies that are powerful and scalable, and that deliver industry-leading value that enable users to find the answers they need. The Lou Gehrig's disease studies are an example of how our tools are being used to accelerate the discovery of association markers for complex disease, said Jay Flatley, president and CEO of Illumina.

The HumanHap240S Genotyping BeadChip contains 240,000 tag SNPs derived from the phase I and II HapMap data, and provides tag SNP coverage in regions of lower linkage disequilibrium in the genome. The addition of the HumanHap240S to the HumanHap300, which contains 317,000 tagSNPs derived from the phase I HapMap data, provides the same level of comprehensive genomic coverage across multiple populations as found on the HumanHap550.

All three BeadChips are powered by the Infinium assay, which enables intelligent SNP selection utilizing tagSNPs. The HumanHap300 is now available in a two-sample BeadChip (HumanHap300-Duo) and can be customized with up to 60,800 additional custom Beadtypes (HumanHap300-Duo+). The HumanHap550 can also be customized with up to 121,600 additional Beadtypes (HumanHap500+).

The study was published in the journal Lancet Neurology on March 12, 2007.


Related Links:
Institute of Aging
National Institute of Mental Health
Illumina