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Publications [#277089] of Kathleen A. Welsh-Bohmer

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Journal Articles

  1. Heinzen, EL; Need, AC; Hayden, KM; Chiba-Falek, O; Roses, AD; Strittmatter, WJ; Burke, JR; Hulette, CM; Welsh-Bohmer, KA; Goldstein, DB (2010). Genome-wide scan of copy number variation in late-onset Alzheimer's disease.. J Alzheimers Dis, 19(1), 69-77. [20061627], [doi]
    (last updated on 2024/03/29)

    Abstract:
    Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted to identify SNPs that influence disease predisposition. These studies have confirmed the well-known APOE epsilon4 risk allele, identified a novel variant that influences disease risk within the APOE epsilon4 population, found a SNP that modifies the age of disease onset, as well as reported the first sex-linked susceptibility variant. Here we report a genome-wide scan of Alzheimer's disease in a set of 331 cases and 368 controls, extending analyses for the first time to include assessments of copy number variation. In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation.


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