Expressive

rs10411936 - EPS15L1

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genomewide meta-analysis identifies novel multiple sclerosis susceptibility loci - Unknown journal (n.d.) · Unknown authors · PubMed 22190364

    ABSTRACT: Objective To perform a one-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and explore functional consequences of new susceptibility loci. Methods We synthesized 7 MS GWAS. Each dataset was imputed using HapMap phase II and a per-SNP meta-analysis was performed across the 7 datasets. We explored RNA expression data using a quantitative trait analysis in peripheral blood mononuclear cells (PBMCs) of 228 subjects with demyelinating disease. Results We meta-analyzed 2,529,394 unique SNPs in 5,545 cases and 12,153 controls. We identified three novel susceptibility alleles: rs170934T at 3p24.1 (OR=1.17, P = 1.6 × 10−8) near EOMES, rs2150702G in the second intron of MLANA on chromosome 9p24.1 (OR = 1.16, P = 3.3 × 10−8), and

  • Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes - Unknown journal (n.d.) · Unknown authors · PubMed 36329257

    ABSTRACT: To explore the complex genetic architecture of common diseases and traits, we conducted comprehensive PheWAS of ten diseases and 34 quantitative traits in the community-based Taiwan Biobank (TWB). We identified 995 significantly associated loci with 135 novel loci specific to Taiwanese population. Further analyses highlighted the genetic pleiotropy of loci related to complex disease and associated quantitative traits. Extensive analysis on glycaemic phenotypes (T2D, fasting glucose and HbA1c) was performed and identified 115 significant loci with four novel genetic variants (HACL1, RAD21, ASH1L and GAK). Transcriptomics data also strengthen the relevancy of the findings to metabolic disorders, thus contributing to better understanding of pathogenesis. In addition, genetic risk sc

  • Multiple Loci Are Associated with White Blood Cell Phenotypes - Unknown journal (n.d.) · Unknown authors · PubMed 21738480

    ABSTRACT: White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from seven cohorts in a discovery analysis, and 11,823 subjects from ten cohorts for replication analyses, to determine genetic factors influencing variability within the normal hematological range for total WBC count and five WBC subtype measures. Cohort specific data was supplied by the CHARGE, HeamGen, and INGI consortia, as well as independent collaborative studies. We identified and replicated ten associations with total WBC count and five WBC subtypes at seven diff

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