AI Article Synopsis

  • There is increasing interest in using single-nucleotide polymorphisms (SNPs) to identify genes linked to complex diseases, but relevant data is still limited.
  • A collaborative study focused on the APOE gene, associated with late-onset Alzheimer’s disease (AD), analyzed 60 SNPs in a specific genomic region.
  • Results showed significant associations for several SNPs, particularly the APOE-4 variant, highlighting the importance of having a dense marker network and employing haplotype analyses to improve the detection and localization of disease-related genes.

Article Abstract

There has been great interest in the prospects of using single-nucleotide polymorphisms (SNPs) in the search for complex disease genes, and several initiatives devoted to the identification and mapping of SNPs throughout the human genome are currently underway. However, actual data investigating the use of SNPs for identification of complex disease genes are scarce. To begin to look at issues surrounding the use of SNPs in complex disease studies, we have initiated a collaborative SNP mapping study around APOE, the well-established susceptibility gene for late-onset Alzheimer disease (AD). Sixty SNPs in a 1.5-Mb region surrounding APOE were genotyped in samples of unrelated cases of AD, in controls, and in families with AD. Standard tests were conducted to look for association of SNP alleles with AD, in cases and controls. We also used family-based association analyses, including recently developed methods to look for haplotype association. Evidence of association (P

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287185PMC
http://dx.doi.org/10.1086/303003DOI Listing

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