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Mayo Clinic-led researchers confirm gene variants associated with the most common adult leukemia
Date:4/20/2009

risk CLL families - defined as two or more relatives diagnosed with CLL.

Using blood samples, investigators performed a genome-wide association study. They combined patients into one group and controls into another and then compared the two groups, looking for differences in genetic variants across the chromosomes. The first analysis of this data focused on the seven single nucleotide polymorphisms (SNPs) that European researchers had found. An SNP is a variation that occurs within a single nucleotide - the structural units of DNA - within a gene, and in most studies like this, the genes in which SNP changes occur are largely known. Analyses of the other genetic variants are under way.

They found that for six of the seven variants examined, CLL patients tended to have the variant more often than patients without the disease. Dr. Slager says these variants are associated with risk of developing the disease, not with prognosis - the outcome of a patient once disease has developed. "We do know that some patients have lost regions of certain genes due to the cancer and this is associated with a poorer outcome. However, we are looking for changes in the genome that potentially determine who will get the disease in the first place," she says.

"Our general theory is that these changes, which a person inherits, combined with environmental risk factors, can predispose a person to developing CLL," she says. "The more you understand about these gene variants and how they affect risk, it becomes possible to think about ways to treat or even prevent CLL."

The researchers have identified some candidate genes that correspond to the identified SNPs, while other SNPs seem to be located near genes or in regions with no genes, i.e., what scientists call gene deserts.


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Contact: Karl Oestreich
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
Source:Eurekalert

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