Evidence map›Paper›PMID 40099350›Full record

ArticleJournal of cosmetic dermatology2025

The Role of the Major Histocompatibility Complex Region on Chromosome 6 in Skin Atrophy: A Mendelian Randomization Study.

Chenyu Zhao, Zhonghao Fan, Ruihan Zhang, Yuehang Sun, Wen-Yang Li

Abstract read
In one paragraph

Article in Journal of cosmetic dermatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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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

2 citing papers in PubMed.

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4 · The record

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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

5 authors.

Chenyu ZhaoDepartment of China Medical University-The Queen's University of Belfast Joint College, School of Pharmacy, China Medical University, Shenyang, China.ORCID https://orcid.org/0009-0007-9490-2062
Zhonghao FanDepartment of China Medical University-The Queen's University of Belfast Joint College, School of Pharmacy, China Medical University, Shenyang, China.
Ruihan ZhangDepartment of China Medical University-The Queen's University of Belfast Joint College, School of Pharmacy, China Medical University, Shenyang, China.
Yuehang SunDepartment of China Medical University-The Queen's University of Belfast Joint College, School of Pharmacy, China Medical University, Shenyang, China.
Wen-Yang LiRespiratory and Critical Care Department, The First Hospital of China Medical University, Shenyang, China.

Funding

National Natural Science Foundation of China 82370093
6 · The paper itself

Abstract

backgroundSkin atrophy (SA) is a pathological condition marked by the thinning of the skin, decreased elasticity, and reduced functionality, often arising from aging, chronic glucocorticoid use, or autoimmune diseases.

objectiveThis study investigates the role of the major histocompatibility complex (MHC) region on chromosome 6 in the development of SA.

methodsWe applied summary-data-based Mendelian randomization (SMR) using eQTL data of three skin-related tissues (whole blood, lower leg, and suprapubic) from the GTEx database, and SA genome-wide association study data from FinnGen. Further, we conducted functional enrichment, colocalization, and drug enrichment analyses on the core genes (intersection genes) to explore their functions and druggability.

resultsSix core genes (PSORS1C3, HLA-C, HLA-DRB5, HLA-DRB6, HLA-DQA1, and HLA-DQB1) located on chromosome 6p21 were consistently identified across all tissues. Functional enrichment, pathway, and protein-protein interaction analyses revealed that these genes are involved in antigen processing and immune response regulation. Drug enrichment analysis highlighted potential therapeutic targets, including interactions with palladium, azathioprine, and insulin. However, limitations in available data for PSORS1C3 and HLA-DRB6, as well as inconclusive colocalization results, suggest a need for further research.

conclusionThis study highlights the involvement of six core genes within the MHC region on chromosome 6 in the development of SA, emphasizing their roles in immune regulation and antigen presentation. These findings open new avenues for understanding SA and offer a foundation for future investigations into immune-related pathways in skin diseases.

Indexed as

Chromosomes, Human, Pair 6Major Histocompatibility ComplexSkinAtrophyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMendelian Randomization AnalysisPolymorphism, Single NucleotideQuantitative Trait Lociagingchromosome 6GWASskin atrophy

Identifiers

PMID40099350
PMCPMC11915082

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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.