rs12131588 - DENND1B

Magnitude 2.2 · 2 studies on file

Reported associations

• The Polygenic and Monogenic Basis of Blood Traits and Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32888494

  ABSTRACT: Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering v

• Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy - Unknown journal (n.d.) · Unknown authors · PubMed 37188663

  ABSTRACT: Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB103:01 and DPB104:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB106:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ24, TRAJ28 and TRBV4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be

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