SynthesisJournal of cosmetic dermatology2025
Genome-Wide Meta-Analysis Identifies Five Single-Nucleotide Polymorphisms Associated With Both Vitiligo and Freckles in the Chinese Han Population.
Synthesis in Journal of cosmetic dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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Authors and funding
17 authors.
Funding
Abstract
backgroundVitiligo and freckles are both pigmentary disorders of the skin. The high prevalence of these conditions also places substantial strain on social healthcare systems. While vitiligo shows genetic predisposition, freckles exhibit autosomal dominant inheritance. Both conditions are closely linked to the immune system, potentially involving immune irregularities and autoimmune deficiencies.
objectiveThis study aimed to investigate the correlation between vitiligo and freckles in relation to major histocompatibility complex (MHC) regions to better understand the genetic factors influencing these chronic pigmentation disorders.
methodsData from 3315 vitiligo patients, 7168 healthy controls, 524 freckle patients, and 4280 healthy controls were collected. A genome-wide association study (GWAS) utilizing the Infinium Global Screening Array-24 v2.0 BeadChip (GSA) and MHC region imputation was conducted, followed by meta-analysis.
resultsThrough stepwise conditional analysis, five single-nucleotide polymorphisms (SNPs) associated with both vitiligo and freckles were identified. These genetic markers shed light on common susceptibility factors between the two diseases.
conclusionThe findings of this study provide insights into the genetic basis of vitiligo and freckles, suggesting potential associations and shared pathways. Understanding these genetic correlations can aid in disease diagnosis, prevention strategies, and further exploration of biological mechanisms underlying these pigmentation disorders.
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