ArticleHuman molecular genetics2018
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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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Who cites it
24 citing papers in PubMed, 47 citations in OpenAlex.
- The exposomal imprint on rosacea: More than skin deep.Journal of the European Academy of Dermatology and Venereology : JEADV · 2026Review
- One-year outcome trends in Japanese patients with rosacea: insights from a real-world study.Skin health and disease · 2026Article
- Beyond the boundaries of pigmentation and inflammation: understanding the mechanistic basis of melasma-rosacea comorbidity.Frontiers in medicine · 2026Review
- Exploring Immune-Related Gene and Mechanisms in Rosacea Through Transcriptome Analysis and Mendelian Randomization.BioMed research international · 2026Article
- Integrated Genomic and GEO Data Analysis Reveals Therapeutic Targets for Rosacea.Journal of cosmetic dermatology · 2025Article
- Association ofZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.International journal of molecular sciences · 2025Article
- Advances in Genetic Polymorphism Research in Rosacea: Mechanisms and Clinical Implications.Clinical, cosmetic and investigational dermatology · 2025Review
- Estimation of genetic variation in vitiligo associated genes: Population genomics perspective.BMC genomic data · 2024Article
- Rosacea in Older Adults and Pharmacologic Treatments.Drugs & aging · 2024Review
- Safety and tolerability of topical trametinib in rosacea: Results from a phase I clinical trial.Skin health and disease · 2024Article
- Therapeutic strategies focusing on immune dysregulation and neuroinflammation in rosacea.Frontiers in immunology · 2024Review
- Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.Nature communications · 2023Article
- The Relationship Between Rosacea and Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.Dermatology and therapy · 2023Review
- Regulation of MAPK Signaling Pathways by the Large HERC Ubiquitin Ligases.International journal of molecular sciences · 2023Review
- Rosacea, microbiome and probiotics: the gut-skin axis.Frontiers in microbiology · 2023Review
- Mediation roles of neutrophils and high-density lipoprotein (HDL) on the relationship between HLA-DQB1 and rosacea.Annals of medicine · 2022Article
- Risk of Skin Cancer and Actinic Keratosis in Patients with Rosacea: A Nationwide Population-based Cohort Study.Acta dermato-venereologica · 2022Article
- Article
- Effectiveness of VISIA system in evaluating the severity of rosacea.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2022Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rosacea is a common, chronic skin disease of variable severity with limited treatment options. The cause of rosacea is unknown, but it is believed to be due to a combination of hereditary and environmental factors. Little is known about the genetics of the disease. We performed a genome-wide association study (GWAS) of rosacea symptom severity with data from 73 265 research participants of European ancestry from the 23andMe customer base. Seven loci had variants associated with rosacea at the genome-wide significance level (P < 5 × 10-8). Further analyses highlighted likely gene regions or effector genes including IRF4 (P = 1.5 × 10-17), a human leukocyte antigen (HLA) region flanked by PSMB9 and HLA-DMB (P = 2.2 × 10-15), HERC2-OCA2 (P = 4.2 × 10-12), SLC45A2 (P = 1.7 × 10-10), IL13 (P = 2.8 × 10-9), a region flanked by NRXN3 and DIO2 (P = 4.1 × 10-9), and a region flanked by OVOL1and SNX32 (P = 1.2 × 10-8). All associations with rosacea were novel except for the HLA locus. Two of these loci (HERC-OCA2 and SLC45A2) and another precedented variant (rs1805007 in melanocortin 1 receptor) with an association P value just below the significance threshold (P = 1.3 × 10-7) have been previously associated with skin phenotypes and pigmentation, two of these loci are linked to immuno-inflammation phenotypes (IL13 and PSMB9-HLA-DMA) and one has been associated with both categories (IRF4). Genes within three loci (PSMB9-HLA-DMA, HERC-OCA2 and NRX3-DIO2) were differentially expressed in a previously published clinical rosacea transcriptomics study that compared lesional to non-lesional samples. The identified loci provide specificity of inflammatory mechanisms in rosacea, and identify potential pathways for therapeutic intervention.
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