SNPing Away at Complex Diseases: Analysis of Single-Nucleotide Polymorphisms around APOE in Alzheimer Disease
| Autor: | Eric H. Lai, Donald E. Schmechel, John H. Riley, Brandon D. Slotterbeck, K. L. Finch, A. J. Afshari, Allen D. Roses, Jeffery Stevens, Margaret A. Pericak-Vance, Jeffery M. Vance, Allison R. Rogala, Eden R. Martin, K. J. Livak, P. Michael Conneally, Liling L. Warren, John R. Gilbert, Susan H. Slifer, Ian J. Purvis |
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| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Apolipoprotein E
Linkage disequilibrium Genotype Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Linkage Disequilibrium 03 medical and health sciences 0302 clinical medicine Apolipoproteins E Gene Frequency Polymorphism (computer science) Alzheimer Disease Genetics SNP Humans Genetics(clinical) Genetic Predisposition to Disease Age of Onset Allele frequency Genetics (clinical) Alleles 030304 developmental biology 0303 health sciences Models Genetic Haplotype Chromosome Mapping Articles Tag SNP Middle Aged 3. Good health Haplotypes Case-Control Studies Lod Score 030217 neurology & neurosurgery |
| Popis: | 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≤.05) was identified for 7 of 13 SNPs, including the APOE-4 polymorphism, spanning 40 kb on either side of APOE. As expected, very strong evidence for association with AD was seen for the APOE-4 polymorphism, as well as for two other SNPs that lie |
| Databáze: | OpenAIRE |
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