ArticleNature communications2023
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- Effect of combined probiotics and doxycycline therapy on the gut-skin axis in rosacea.mSystems · 2024Trial
- Rosacea in Patients with Skin of Color: Diagnosis and Management.American journal of clinical dermatology · 2026Review
- Article
- Artificial intelligence-enabled precision medicine for inflammatory skin diseases.The Journal of investigative dermatology · 2026Review
- The exposomal imprint on rosacea: More than skin deep.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Review
- Dermatological and gastrointestinal adverse reactions in ocrelizumab treated patients with multiple sclerosis: a case series.Frontiers in immunology · 2026Article
- Targeting Macrophage-to-Myofibroblast Transition Mitigates Progression from Inflammation to Fibrosis in Rosacea.International journal of biological sciences · 2026Article
- Objective assessment of rosacea erythema severity: a multimodal artificial intelligence framework integrating VISIA® imaging and image-derived tabular features.Frontiers in medicine · 2026Article
- Risk Factor Analysis Based on Disease Severity: Rosacea Disease Management Strategies and Personalized Recommendations.Journal of cosmetic dermatology · 2026Article
- Exploration of shared biomarkers and mechanisms in systemic lupus erythematous and lung cancer via bioinformatics analysis.Journal of translational autoimmunity · 2025Article
- The role of skin barrier and immune abnormalities in the pathogenesis of Rosacea.Clinical and experimental medicine · 2025Review
- Intense pulsed Light, Light-Emitting Diode, and hydroxychloroquine in the treatment of rosacea: A clinical observation.Lasers in medical science · 2025Observational
- Causal relationship between rosacea and psychiatric disorders: a bidirectional two-sample Mendelian randomization study.Archives of dermatological research · 2025Article
- Beyond the classic players: Mas-related G protein-coupled receptor member X2 role in pruritus and skin diseases.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Review
- Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications.Clinical, cosmetic and investigational dermatology · 2025Review
- Macrophages in rosacea: pathogenesis and therapeutic potential.Frontiers in immunology · 2025Review
- Updates in the Treatment of Rosacea with γ-Aminobutyric Acid Derivatives.Clinical, cosmetic and investigational dermatology · 2025Review
- Advances in the pathogenesis of rosacea.Frontiers in immunology · 2025Review
- Impaired Angiogenesis and Th1/Th17 Polarization: A Possible Explanation for the Decreased Incidence of Rosacea in the Aged.Immunity, inflammation and disease · 2024Article
- BICEP: Bayesian inference for rare genomic variant causality evaluation in pedigrees.Briefings in bioinformatics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rosacea is a chronic inflammatory skin disorder with high incidence rate. Although genetic predisposition to rosacea is suggested by existing evidence, the genetic basis remains largely unknown. Here we present the integrated results of whole genome sequencing (WGS) in 3 large rosacea families and whole exome sequencing (WES) in 49 additional validation families. We identify single rare deleterious variants of LRRC4, SH3PXD2A and SLC26A8 in large families, respectively. The relevance of SH3PXD2A, SLC26A8 and LRR family genes in rosacea predisposition is underscored by presence of additional variants in independent families. Gene ontology analysis suggests that these genes encode proteins taking part in neural synaptic processes and cell adhesion. In vitro functional analysis shows that mutations in LRRC4, SH3PXD2A and SLC26A8 induce the production of vasoactive neuropeptides in human neural cells. In a mouse model recapitulating a recurrent Lrrc4 mutation from human patients, we find rosacea-like skin inflammation, underpinned by excessive vasoactive intestinal peptide (VIP) release by peripheral neurons. These findings strongly support familial inheritance and neurogenic inflammation in rosacea development and provide mechanistic insight into the etiopathogenesis of the condition.
Indexed as
Identifiers
What OpenQuestion holds
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.