Expressive

rs12377089 - BRD3 - ARF4P1

Magnitude 2.0 · 2 studies on file

Reported associations

  • Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. - American journal of human genetics (2021) · Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ · PubMed 34469753

    Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Despite overlap between genetic risk loci for ALL and hematologic traits, the etiological relevance of dysregulated blood-cell homeostasis remains unclear. We investigated this question in a genome-wide association study (GWAS) of childhood ALL (2,666 affected individuals, 60,272 control individuals) and a multi-trait GWAS of nine blood-cell indices in the UK Biobank. We identified 3,000 blood-cell-trait-associated (p < 5.0 × 10 ) variants, explaining 4.0% to 23.9% of trait variation and including 115 loci associated with blood-cell ratios (LMR, lymphocyte-to-monocyte ratio; NLR, neutrophil-to-lymphocyte ratio; PLR, platelet-to-lymphocyte ratio). ALL susceptibility was genetically correlated with lymphocyte counts (r

  • Integrative Approaches Identify Genetic Determinants of Levodopa Induced Dyskinesia - Unknown journal (n.d.) · Unknown authors · PubMed 40299300

    ABSTRACT: Levodopa induced dyskinesia (LID) is a serious side effect of levodopa treatment in Parkinson's disease (PD), with limited interventions. Understanding the genetic impact on LID would help inform future intervention studies. We performed integrative genomic analysis approaches to identify the genetic determinants of LID in a Chinese multi-center prospective, observational PD cohort. In this cohort, 46 of 315 PD patients developed LID during 2.5 years of follow-up. First, we performed a genome-wide association study (GWAS) in this cohort, followed by a meta-analysis integrating our GWAS summary data with additional data of European ancestry. Both GWAS analyses identified the Bromodomain Containing 3 (BRD3) as a LID susceptibility gene (P < 5 × 10-8); however, the geneti

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