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• W2012143275 abstract "It is accepted that genetics plays a crucial role in human longevity with up to 30% heritability. Genes implicated in age-related diseases might have a role influencing life-span. In this study, we investigated i) the presence of genes influencing life-span in LOAD GWAS data and ii) if the known LOAD genes (APOE, CLU, PICALM, CR1 and BIN1) also play a role in human longevity. Through a collaborative effort we were able to draw upon a combined GWAS dataset (subject-level genotype data) from 1,385 subjects (before quality control) with documented age-at-death (AAD). Extensive quality control (QC) measures were applied. Population stratification and genomic control inflation factor were examined using EIGENSTRAT, and ‘genetic outliers’ were removed. Quantitative trait (QT) analysis was performed using multivariable linear regression in PLINK, adjusted for AD status, gender, and principle components. AAD was used as a continuous trait in this analysis thus giving maximum statistical power. When testing association with longevity with LOAD genes, the most significant single nucleotide polymorphisms (SNPs) found in previous studies were used for each gene - APOE locus (rs2075650), CLU (rs11136000), PICALM (rs3851179), CR1 (rs3818361), BIN1 (rs744373). We observed two SNPs associated with longevity which both exceeded genome-wide significance (rs4110518, p = 5.96x10−9 and rs2944476, p = 2.19x10−8). SNP rs4110518 is located 47.8kb upstream of cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), and it is in an LD block encompassing both CYP2C9 and CYP2C19 genes. SNP rs2944476 is located in an intron of transcription elongation regulatory 1-like (TCERG1L) gene. Moderate effect was observed for APOE (rs2075650, p = 5.27x10−4), which is compatible with recent findings. No evidence of association with life-span was observed for the other LOAD genes investigated (p > 0.1). This study highlights SNPs worthy of further study, and provides evidence that CLU, PICALM, CR1 and BIN1 are genuine LOAD susceptibility genes with no detectable effect on human longevity." @default.
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• W2012143275 date "2011-07-01" @default.
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• W2012143275 title "P1-262: Genetic Variants Influencing Human Longevity from Late-Onset Alzheimer's Disease (LOAD) Genome-Wide Association Studies (GWAS)" @default.
• W2012143275 doi "https://doi.org/10.1016/j.jalz.2011.05.542" @default.
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