SynthesisEuropean journal of human genetics : EJHG2024
Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris.
Synthesis in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Exploring clinical and genetic evidence in association between unsaturated fatty acids and acne.European journal of nutrition · 2025Pooled it
- Replication of acne susceptibility loci and gene-environment interactions with screen time in Singapore and Malaysia Chinese population.JID innovations : skin science from molecules to population health · 2026Article
- Hidden immune memory niches in inflammatory skin diseases.bioRxiv : the preprint server for biology · 2026Article
- The Evolving Microbial Paradigm in Acne.Biomolecules · 2026Review
- The Polygenic Architecture of Human Diseases Affecting the Hair Follicle.The Journal of investigative dermatology · 2026Review
- Exposome involvement in the development of acne vulgaris.Frontiers in immunology · 2026Review
- A New Insight into Acne Pathogenesis: Multi-Omics Links a Metabolite toClinical, cosmetic and investigational dermatology · 2026Article
- Neuroanatomical dimensions in major depression linked to cognition, adverse life events, self-harm, metabolomics and genetics.Communications medicine · 2025Article
- Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk.medRxiv : the preprint server for health sciences · 2025Article
- IL-1 signaling enrichment in inflammatory skin disease loci with higher-risk allele frequencies in African ancestry.Research square · 2025Article
- No Associations Between Genetically Predicted Chronotype, Insomnia, Daytime Sleepiness, or Physical Activity and Acne Vulgaris: A Two-Sample Mendelian Randomization Study.Clinical, cosmetic and investigational dermatology · 2025Article
- DNA Methylation at cg18095732 Modulates ZDHHC20 Expression and Decreases Acne Vulgaris Risk.Clinical, cosmetic and investigational dermatology · 2025Article
- Exploring Genetic Drug Targets in Acne Vulgaris: A Comprehensive Proteome-Wide Mendelian Randomization Study.Journal of cosmetic dermatology · 2024Article
- Genetic susceptibility to acne vulgaris increases breast cancer risk: insights from Mendelian randomization.Archives of dermatological research · 2024Article
- Genomic technologies identify milder presentations of Mendelian disease.European journal of human genetics : EJHG · 2024Article
- The causal relationship between serum metabolites and acne vulgaris: a Mendelian randomization study.Scientific reports · 2024Article
- Mendelian randomization analysis reveals an independent causal relationship between four gut microbes and acne vulgaris.Frontiers in microbiology · 2024Article
- Identification of Novel Protein Biomarkers and Drug Targets for Acne Vulgaris by Integrating Human Plasma Proteome with Genome-Wide Association Data.Journal of inflammation research · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Acne vulgaris is a common chronic skin disorder presenting with comedones, cystic structures forming within the distal hair follicle, and in most cases additionally with inflammatory skin lesions on the face and upper torso. We performed a genome-wide association study and meta-analysis of data from 34,422 individuals with acne and 364,991 controls from three independent European-ancestry cohorts. We replicated 19 previously implicated genome-wide significant risk loci and identified four novel loci [11q12.2 (FADS2), 12q21.1 (LGR5), 17q25.3 (FASN), and 22q12.1 (ZNRF3-KREMEN1)], bringing the total number of reported acne risk loci to 50. Our meta-analysis results explain 9.4% of the phenotypic variance of acne. A polygenic model of acne risk variants showed that individuals in the top 5% of the risk percentiles had a 1.62-fold (95% CI 1.47-1.78) increased acne risk relative to individuals with average risk (20-80% on the polygenic risk score distribution). Our findings highlight the Wnt and MAPK pathways as key factors in the genetic predisposition to acne vulgaris, together with the effects of genetic variation on the structure and maintenance of the hair follicle and pilosebaceous unit. Two novel loci, 11q12.2 and 17q25.3, contain genes encoding key enzymes involved in lipid biosynthesis pathways.
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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.