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Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer s disease Lupton MK; Proitsi P; Danillidou M; Tsolaki M; Hamilton G; Wroe R; Pritchard M; Lord K; Martin BM; Kloszewska I; Soininen H; Mecocci P; Vellas B; Harold D; Hollingworth P; Lovestone S; Powell JFPLoS One 2011[Feb]; 6 (2): e17298Nicastrin is an obligatory component of the gamma-secretase; the enzyme complex that leads to the production of Abeta fragments critically central to the pathogenesis of Alzheimer's disease (AD). Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and matched controls using an innovative pooling approach and next generation sequencing. Five SNPs were identified and validated by individual genotyping from 311 cases and 360 controls. Association analysis identified a non-synonymous rare SNP (N417Y) with a statistically higher frequency in cases compared to controls in the Greek population (OR 3.994, CI 1.105-14.439, p = 0.035). This finding warrants further investigation in a larger cohort and adds weight to the hypothesis that rare variation explains some of genetic heritability still to be identified in Alzheimer's disease.|Aged[MESH]|Aged, 80 and over[MESH]|Alzheimer Disease/*genetics[MESH]|Amyloid Precursor Protein Secretases/*genetics[MESH]|Case-Control Studies[MESH]|DNA/analysis[MESH]|Gene Frequency[MESH]|Genetic Predisposition to Disease[MESH]|Genetic Variation/physiology[MESH]|High-Throughput Nucleotide Sequencing/*methods[MESH]|Humans[MESH]|Membrane Glycoproteins/*genetics[MESH]|Meta-Analysis as Topic[MESH]|Middle Aged[MESH]|Polymorphism, Single Nucleotide/physiology[MESH]|Risk Factors[MESH]|Specimen Handling/methods[MESH]|Validation Studies as Topic[MESH] |
