Celera study shows gene that may be linked to late-onset Alzheimer's disease

By E. Janene Geiss

Philadelphia, Dec. 6 - Celera Diagnostics said Tuesday that study data shows a novel locus on Chromosome 10 correlates strongly with increased risk for late-onset Alzheimer's disease.

The study evaluated more than 1,700 Alzheimer's cases and more than 1,700 age-matched controls, officials said in a news release.

Results demonstrated that single nucleotide polymorphisms (SNPs) in a gene that is homologous to the RPS3A gene were associated with Alzheimer's and implicate this gene, adjacent genes or other functional variants in the development and progression of this disease.

"This study provides valuable insights into the genetic contribution to Alzheimer's disease," John Hardy, senior investigator and chief of the Laboratory of Neurogenetics at the National Institute on Aging in Bethesda, Md., said in the release. "Large-scale studies with well-characterized samples from carefully selected patients allow us to discover genes that help us to identify those individuals predisposed to this debilitating disease."

The research was a chromosome 10-specific association study performed with 1,412 gene-based SNPs to identify susceptibility genes for Alzheimer's disease. The scan included SNPs in 677 genes out of 1,270 known or predicted genes; each gene contained one or more markers, about half of which represented putative functional mutations.

In general, the initial testing was performed in a Caucasian case-control sample from the St. Louis area with 419 cases and 377 aged-matched controls. Markers that showed significant association in the exploratory analysis were followed up in several other case-control sample sets to confirm the initial association.

One marker located in a gene homologous to RPS3A was significantly associated with Alzheimer's disease. RPS3A itself is a strong candidate gene for Alzheimer's disease since it has a role in regulating programmed cell death, which is important in early phases of the disease. The function of the homologue is unknown.

These findings will appear in the January edition of the American Journal of Human Genetics.

An estimated 4.5 million Americans suffer from Alzheimer's disease and that number is expected to grow to as many as 16 million by 2050, officials said.

Celera, based in Alameda, Calif., is a joint venture between the Applied Biosystems Group and Celera Genomics Group of Applera Corp. It is focused on discovery of diagnostic products.

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