Mayo Clinic Laboratory and pathology research roundup: July 27

By Chantell Canfield • July 27, 2021

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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.

Featured Abstract

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.

Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Via Nature Genetics

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Published to PubMed This Week

• Polygenic risk score and risk of monoclonal B-cell lymphocytosis in caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans.
  Leukemia
• Patterns of therapy initiation during the first decade for patients with follicular lymphoma who were observed at diagnosis in the rituximab era.
  Blood Cancer Journal
• Lack of intrafollicular memory CD4 + T cells is predictive of early clinical failure in newly diagnosed follicular lymphoma.
  Blood Cancer Journal
• Phosphorylated WNK kinase networks in recoded bacteria recapitulate physiological function.
  Call Reports
• Association of varying clinical manifestations and positive anti-SARS-CoV-2 IgG antibodies: a cross-sectional observational study.
  Journal of Allergy and Clinical Immunology in Practice
• NDUFA4L2 promotes trastuzumab resistance in HER2-positive breast cancer.
  Therapeutic Advances in Medical Oncology
• Association between spinal stenosis and wild-type ATTR amyloidosis.
  Amyloid
• Gemcitabine/nab-paclitaxel with pamrevlumab: a novel drug combination and trial design for the treatment of locally advanced pancreatic cancer.
  Esmo Open
• Correction to: ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 2 of 2-Diagnostic criteria and appropriate utilization.
  Journal of Nuclear Oncology
• PRRX1-NCOA1 rearranged fibroblastic tumor: Clinicopathologic, immunohistochemical and molecular genetic study of 6 cases of a potentially under-recognized, distinctive mesenchymal tumor.
  Histopathology

Chantell Canfield

Chantell Canfield is a web content coordinator for Mayo Clinic Laboratories. She began working for Mayo Clinic in 2021.