Genetic Variation Linked to Alzheimer's Disease

Specific single-nucleotide polymorphism in the gene PCDH11X associated with susceptibility to late-onset Alzheimers disease

19 jan 2009-- Variation in the PCDH11X gene is significantly associated with the risk of developing late-onset Alzheimer's disease, according to research published online Jan. 11 in Nature Genetics.

Minerva M. Carrasquillo, Ph.D., of the Mayo Clinic College of Medicine in Jacksonville, Fla., and colleagues used a two-stage genome-wide association study to identify genes associated with a susceptibility to late-onset Alzheimer's disease. In the first stage, single-nucleotide polymorphisms (SNPs) were analyzed in 844 case and 1,255 control samples. During the second stage, the 25 SNPs with the most significant association were genotyped in an additional 845 case and 1,000 control samples.

Using this two-stage system, the investigators identified a SNP in the gene PCDH11X to be strongly associated with development of late-onset Alzheimer's disease. This association was observed in individuals of European descent who were from the United States. Female patients who were homozygous for this SNP had a 1.75-fold increased risk of late-onset Alzheimer's disease, while heterozygous females had a 1.26-fold increased risk, the researchers report.

"Further study to determine how risk for late-onset Alzheimer's disease is mediated by specific genetic variation in PCDH11X should improve understanding of the molecular basis of late-onset Alzheimer's disease and open new therapeutic possibilities for this devastating disease," the authors write.

Abstract
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