Publications by authors named "K Lindblad-Toh"
Current genetic research on obsessive-compulsive disorder (OCD) supports contributions to risk specifically from common single nucleotide variants (SNVs), along with rare coding SNVs and small insertion-deletions (indels). The contribution to OCD risk from rare copy number variants (CNVs), however, has not been formally assessed at a similar scale. Here we describe an analysis of rare CNVs called from genotype array data in 2248 deeply phenotyped OCD cases and 3608 unaffected controls from Sweden and Norway.
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- This study investigates the genetics behind systemic inflammatory autoimmune diseases (SIADs), like systemic lupus erythematosus, primary Sjögren's disease, and myositis, which share similar autoantibodies and symptoms.
- Researchers sequenced DNA from immune-related genes in over 2,200 Scandinavian patients and 1,200 controls to identify genetic variants connected to these diseases.
- Findings revealed both known and new genetic loci associated with SIADs and highlighted that different patient subgroups have distinct genetic traits, influencing their clinical features and possibly leading to anti-inflammatory effects related to skin manifestations.
Background: The Nova Scotia Duck Tolling Retriever (NSDTR) has previously been highlighted as a breed at risk for developing immune mediated diseases and cancer. The immune response is of great importance for the development of neoplastic disease and a dysregulated immune response may predispose to cancer. Two of the commonly seen immune mediated diseases in NSDTRs are immune mediated rheumatic disease (IMRD), which bears similarities to systemic lupus erythematosus (SLE) affecting humans, and steroid-responsive meningitis-arteritis (SRMA), which is a non-infectious inflammation of the meninges and the leptomeningeal vessels.
View Article and Find Full Text PDFThe Nova Scotia Duck Tolling Retriever (NSDTR) is predisposed to immune mediated rheumatic disease (IMRD), steroid-responsive meningitis-arteritis (SRMA) and certain forms of cancer. Cytokines are the main regulators of the immune system. Interleukin 2 is a cytokine involved in activation of T regulatory cells, playing a role in central tolerance and tumor immunity.
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- Hemangiosarcoma in dogs and angiosarcoma in humans are aggressive sarcomas originating from blood vessel-forming cells, characterized by disorganized vascular spaces and high metastasis rates.
- The study used dog-in-mouse xenografts to mimic the tumors' properties, observing the complex interaction between donor and host cells, which led to the development of myeloid hyperplasia and lymphoproliferative tumors.
- Findings suggest that these sarcomas create a supportive microenvironment for hematopoietic (blood cell) growth, indicating a potential role in tumor progression by regulating surrounding stromal and immune responses.