Expressive

rs11137085 - DEFA3 - DEFA11P

Magnitude 2.0 · 2 studies on file

Reported associations

  • Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits - Cell genomics (2025) · Zhou F, Astle WJ, Butterworth AS, Asimit JL · PubMed 40220762

    ABSTRACT: Summary Genome-wide association studies (GWASs) of high-dimensional traits, such as blood cell or metabolic traits, often use univariate approaches, ignoring trait relationships. Biological mechanisms generating variation in high-dimensional traits can be captured parsimoniously through a GWAS of latent factors. Here, we introduce flashfmZero, a zero-correlation latent-factor-based multi-trait fine-mapping approach. In an application to 25 latent factors derived from 99 blood cell traits in the INTERVAL cohort, we show that latent factor GWASs enable the detection of signals generating sub-threshold associations with several blood cell traits. The 99% credible sets (CS99) from flashfmZero were equal to or smaller in size than those from univariate fine-mapping of blood cell trait

  • Identification of susceptibility loci and relevant cell type for IgA nephropathy in Han Chinese by integrative genome-wide analysis. - Frontiers of medicine (2024) · Li M, Hao X, Shi D, Cheng S, Zhong Z, Cai L, Jiang M, Ding L, Ding L, Wang C, Yu X · PubMed 39343836

    Although many susceptibility loci for IgA nephropathy (IgAN) have been identified, they only account for 11.0% of the overall IgAN variance. We performed a large genome-wide meta-analysis of IgAN in Han Chinese with 3616 cases and 10 417 controls to identify additional genetic loci of IgAN. Considering that inflammatory bowel disease (IBD) and asthma might share an etiology of dysregulated mucosal immunity with IgAN, we performed cross-trait integrative analysis by leveraging functional annotations of relevant cell type and the pleiotropic information from IBD and asthma. Among 8 669 456 imputed variants, we identified a novel locus at 4p14 containing the long noncoding RNA LOC101060498. Cell type enrichment analysis based on annotations suggested that PMA-I-stimulated CD4 CD25 IL17 Th17 c

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