ArticleAmerican journal of human genetics2012
Identification of IL18RAP/IL18R1 and IL12B as leprosy risk genes demonstrates shared pathogenesis between inflammation and infectious diseases.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 82 citations in OpenAlex.
- Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.Scientific reports · 2017Pooled it
- A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.Nature communications · 2016Pooled it
- The IL18RAP region disease polymorphism decreases IL-18RAP/IL-18R1/IL-1R1 expression and signaling through innate receptor-initiated pathways.Journal of immunology (Baltimore, Md. : 1950) · 2014Trial
- Machine learning-driven discovery of host genetic factors for paratuberculosis in goats within the one health framework.BMC veterinary research · 2026Article
- Family-based genetics identifies association of CUBN, IL1RL1 and PRKN variants with leprosy in Bangladesh.Scientific reports · 2025Article
- Epstein-Barr virus infection exacerbates ulcerative colitis by driving macrophage pyroptosis via the upregulation of glycolysis.Precision clinical medicine · 2025Article
- Review
- Leprosy: treatment, prevention, immune response and gene function.Frontiers in immunology · 2024Review
- Genome-wide meta-analysis and fine-mapping prioritize potential causal variants and genes related to leprosy.MedComm · 2023Article
- Integrating GWAS and proteome data to identify novel drug targets for MU.Scientific reports · 2023Article
- An Integrative Analysis of Identified Schizophrenia-Associated Brain Cell Types and Gene Expression Changes.International journal of molecular sciences · 2022Article
- Genome-wide association study of leprosy in Malawi and Mali.PLoS pathogens · 2022Article
- Deep resequencing identifies candidate functional genes in leprosy GWAS loci.PLoS neglected tropical diseases · 2021Article
- Mitochondria: Powering the Innate Immune Response to Mycobacterium tuberculosis Infection.Infection and immunity · 2021Review
- Associations Between the Purinergic Receptor P2X7 and Leprosy Disease.Frontiers in genetics · 2021Article
- Single-Nucleotide Polymorphisms Related to Leprosy Risk and Clinical Phenotypes Among Chinese Population.Pharmacogenomics and personalized medicine · 2021Article
- Genome-Wide DNA Methylation Changes Associated With High-Altitude Acclimatization During an Everest Base Camp Trek.Frontiers in physiology · 2021Article
- Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.PLoS neglected tropical diseases · 2020Article
- Genetics of leprosy: today and beyond.Human genetics · 2020Review
- Identification of susceptibility locus shared by IgA nephropathy and inflammatory bowel disease in a Chinese Han population.Journal of human genetics · 2020Article
Corrections and comments
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Authors and funding
32 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Of eight leprosy susceptibility loci identified by genome-wide association studies, five have been implicated in Crohn disease, suggesting a common genetic fingerprint between leprosy and inflammatory bowel disease (IBD). Here, we conducted a multiple-stage genetic association study of 133 IBD susceptibility loci in multiple leprosy samples (totaling 4,971 leprosy cases and 5,503 controls) from a Chinese population and discovered two associations at rs2058660 on 2q12.1 (p = 4.57 × 10(-19); odds ratio [OR] = 1.30) and rs6871626 on 5q33.3 (p = 3.95 × 10(-18); OR = 0.75), implicating IL18RAP/IL18R1 and IL12B as susceptibility genes for leprosy. Our study reveals the important role of IL12/IL18-mediated transcriptional regulation of IFN-γ production in leprosy, and together with previous findings, it demonstrates the shared genetic susceptibility between infectious and inflammatory diseases.
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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.