Evidence map›Paper›PMID 40657813›Full record

SynthesisJournal of cosmetic dermatology2025

Genome-Wide Meta-Analysis Identifies Five Single-Nucleotide Polymorphisms Associated With Both Vitiligo and Freckles in the Chinese Han Population.

Jiayi Lu, Yirui Wang, Zhuo Li, Jing Yu, Can Song, Minhao Wang, Sihao Yan, Juan Du, Chunmeng Liu, Xiaofen Guo and 7 more

Abstract readMeta-Analysis
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Jiayi LuDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Yirui WangDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Zhuo LiDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Jing YuDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Can SongDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Minhao WangDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Sihao YanDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Juan DuSchool of Public Health, North China University of Science and Technology, Tangshan, Hebei, China.
Chunmeng LiuSchool of Public Health, North China University of Science and Technology, Tangshan, Hebei, China.
Xiaofen GuoSchool of Clinical Medicine, North China University of Science and Technology, Tangshan, Hebei, China.
Xinyu FengSchool of Clinical Medicine, North China University of Science and Technology, Tangshan, Hebei, China.
Wanli NiuSchool of Basic Medicine, North China University of Science and Technology, Tangshan, Hebei, China.
Mingwei LvSchool of Basic Medicine, North China University of Science and Technology, Tangshan, Hebei, China.
Weiwei ChenHealth Science Center, North China University of Science and Technology, Tangshan, China.
Yang HanHealth Science Center, North China University of Science and Technology, Tangshan, China.
Qi ZhenHealth Science Center, North China University of Science and Technology, Tangshan, China.
Liangdan SunDepartment of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.ORCID https://orcid.org/0000-0002-8499-5353

Funding

Clinical medicine discipline construction project of Anhui Medical University 2021lcxk008Hebei Natural Science Foundation H2023209084Program from Leading Talent Team of University of Anhui Province, ChinaScience Research Project of Hebei Education Department QN2024003Science Research Project of Hebei Education Department QN2025347Science Research Project of Hebei Education Department QN2025408S&T Program of Hebei 23372505Dthe University Synergy Innovation Program of Anhui Province GXXT-2020-064
6 · The paper itself

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.

Indexed as

MelanosisVitiligoAdultCase-Control StudiesChinaEast Asian PeopleFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMajor Histocompatibility ComplexMaleMiddle AgedPolymorphism, Single NucleotidefrecklesGWASmeta‐analysisMHCvitiligo

Identifiers

PMID40657813
PMCPMC12257906

What Socratic holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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 Socratic graph.