ArticleAmerican journal of human genetics2021
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Prevalence of myeloid gene alterations in paediatric cutaneous and systemic mastocytosis.British journal of haematology · 2025Article
- Mastocytosis.Nature reviews. Disease primers · 2025Review
- Multi-omics in Allergic Rhinitis: Mechanism Dissection and Precision Medicine.Clinical reviews in allergy & immunology · 2025Review
- Mast cell activation syndrome: Current understanding and research needs.The Journal of allergy and clinical immunology · 2024Review
- Prevalence and impact of theOncotarget · 2024Article
- Genetic Changes in Mastocytes and Their Significance in Mast Cell Tumor Prognosis and Treatment.Genes · 2024Review
- QTLbase2: an enhanced catalog of human quantitative trait loci on extensive molecular phenotypes.Nucleic acids research · 2023Article
- Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.Cancers · 2022Review
- Genetics and Epigenetics in Allergic Rhinitis.Genes · 2021Review
- Effects of Primary Mast Cell Disease on Hemostasis and Erythropoiesis.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
27 authors at 15 institutions in 6 countries.
Funding
Abstract
Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three intergenic SNPs associated with mastocytosis that achieved genome-wide significance without heterogeneity between cohorts: rs4616402 (p
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Registered trials
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