Mayo Clinic laboratory and pathology research roundup: November 30
The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Discovery of Rare Variants Associated with Blood Pressure Regulation through Meta-Analysis of 1.3 Million Individuals.
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10-8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were ~8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets. Via Nature Genetics
Published to PubMed This Week
- Low-Dose Testosterone Augmentation for Antidepressant-Resistant Major Depressive Disorder in Women: An 8-Week Randomized Placebo-Controlled Study.
American Journal of Psychiatry
- Bile Acid Profiles in Primary Sclerosing Cholangitis and their Ability to Predict Hepatic Decompensation.
- ERICH3: Vesicular Association and Antidepressant Treatment Response.
- Neurologic Autoimmunity and Immune Checkpoint Inhibitors: Autoantibody Profiles and Outcomes.
- Paraneoplastic Myeloneuropathies: Clinical, Oncologic and Serologic Accompaniments.
- Prognostic Impact and Timing Considerations for Allogeneic Hematopoietic Stem Cell Transplantation in Chronic Myelomonocytic Leukemia.
Blood Cancer Journal
- Neural Antibody Testing in Patients with Suspected Autoimmune Encephalitis.
- SF3B1-Mutant CMML Defines a Predominantly Dysplastic CMML Subtype with a Superior Acute Leukemia-Free Survival.
- Bed Bugs are Associated with Anemia.
American Journal of Emerging Medicine
- Non-Neutralizing Antibodies and Limitations of Serological Testing for SARS-CoV-2 in Patients Receiving Replacement Immunoglobulin Products.
Annals of Allergy, Asthma, and Immunology