ArticleThe Journal of allergy and clinical immunology2009
Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations.
Article in The Journal of allergy and clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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Who cites it
32 citing papers in PubMed, 71 citations in OpenAlex.
- Temporal single-cell transcriptional dynamics of murine pancreatic islet remodeling during hyperglycaemia progression.Molecular metabolism · 2026Article
- Long-term ocular symptoms following COVID-19 linked to immune dysregulation, dysautonomia and peripheral neuropathy.Nature communications · 2026Article
- Distinct Tryptase Gene Copy Number Variations Correlate With Tryptase Levels in a Population-Based Cohort.Allergy · 2026Article
- Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.Frontiers in allergy · 2025Review
- Hereditary alpha-tryptasemia and monoclonal mast cell disorders.Frontiers in allergy · 2025Review
- Exploring a pico-well based scRNA-seq method (HIVE) for simplified processing of equine bronchoalveolar lavage cells.PloS one · 2025Article
- The Clinical Features of Hereditary Alpha-Tryptasemia—Implications for Interdisciplinary Practice.Deutsches Arzteblatt international · 2024Review
- Clinically accessible amplitude-based multiplex ddPCR assay for tryptase genotyping.Scientific reports · 2024Article
- Article
- Mast Cell Activation Syndrome Update-A Dermatological Perspective.Journal of personalized medicine · 2023Review
- Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.Blood advances · 2023Article
- Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2021Review
- Inherited and acquired determinants of serum tryptase levels in humans.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2021Review
- Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.International journal of molecular sciences · 2021Review
- Molecular characterization of the human kidney interstitium in health and disease.Science advances · 2021Article
- Mast cell activation in the context of elevated basal serum tryptase: genetics and presentations.Current allergy and asthma reports · 2019Review
- Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.The Journal of experimental medicine · 2019Article
- An Allosteric Anti-tryptase Antibody for the Treatment of Mast Cell-Mediated Severe Asthma.Cell · 2019Article
- Mouse Tryptase Gene Expression is Coordinately Regulated by GATA1 and GATA2 in Bone Marrow-Derived Mast Cells.International journal of molecular sciences · 2019Article
- Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features.Immunology and allergy clinics of North America · 2018Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundMast cell tryptases have proposed roles in allergic inflammation and host defense against infection. Tryptase gene loci TPSAB1 and TPSB2 are known to be polymorphic, but the nature and extent of diversity at these loci have not been fully explored.
objectiveWe sought to compare functional and nonfunctional tryptase allele frequencies and establish haplotypes in human populations.
methodsTryptase allele frequencies were determined by means of direct sequencing in 270 individuals from HapMap populations of European, African, Chinese, and Japanese ancestry. Haplotypes were predicted, validated in parent-child trios, and compared between populations.
resultsWe identify a new frame-shifted tryptase allele (betaIII(FS)) carried by 23% and 19% of individuals of European and African ancestry but 0% of Asian subjects. Homology models predict that betaIII(FS) is functionless. Our genotyping assay shows that allele and haplotype distributions in each population are unique. Strong linkage disequilibrium between TPSAB1 and TPSB2 (r(2)=0.83, D'=0.85) yields 2 major and 5 minor tryptase haplotypes.
conclusionsTryptase deficiency alleles (alpha and the newly discovered betaIII(FS)) are common, causing the number of inherited active genes to range from a minimum of 2 to a maximum of 4, with major differences between populations in the proportion of individuals inheriting 2 versus 4 active alleles. African and Asian populations are especially enriched in genes encoding functional and nonfunctional tryptases, respectively. Strong linkage of TPSAB1 and TPSB2 and pairing of deficiency alleles with functional alleles in observed haplotypes protect human subjects from "knockout" genomes and indeed from inheritance of fewer than 2 active alleles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.