Expressive

rs117529438 - LINC02389, LINC02231

Magnitude 4.5 · 2 studies on file

Reported associations

  • Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation and plasma lipids in the Health and Retirement Study. - Unknown journal (n.d.) · Unknown authors · PubMed 31201950

    ABSTRACT: Variants associated with modulation of c-reactive protein (CRP) and plasma lipids have been investigated for polygenic overlap with Alzheimer's Disease risk variants. We examined pleiotropic genetic effects on cognitive impairment (CI) conditioned on genetic variants (SNPs) associated with systemic inflammation as measured by CRP and with plasma lipids using data from the Health and Retirement Study (HRS). SNP enrichment is observed for CI conditioned on the secondary phenotypes of plasma CRP and lipids. Fold enrichment of 100% - 800% was observed for increasingly stringent p-value thresholds for SNPs associated with CI conditional on plasma CRP, 80%-800% for Low-Density Lipoprotein (LDL) and 80% - 600% for total cholesterol (TC). Significant associations (FDR (q) ≤ 0.0

  • A Genomics England haplotype reference panel and imputation of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 39134668

    ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10−4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10−11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants. A Genomics England haplotype reference panel constructed using sequence data from 78,195 individuals

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