Genetic Insights Into the Association Between Sunburn Susceptibility and Thoracic Aortic Aneurysm Through Integrated Genomic and Transcriptomic Analyses

Announcing a new article publication for Cardiovascular Innovations and Applications. Ultraviolet B exposure may influence vascular homeostasis and extracellular matrix remodeling. Thoracic aortic aneurysm (TAA) is characterized by progressive aortic wall degeneration; however, its relationship with sunburn susceptibility remains unclear.

This study was aimed at investigating whether genetically predicted sunburn susceptibility might be associated with TAA risk, and to explore potential genomic and transcriptomic mechanisms.

Two-sample Mendelian randomization on sunburn susceptibility and TAA GWAS data from 350,232 and 19,646 individuals of European ancestry were performed . PheWAS and pigmentation-locus sensitivity analyses were conducted to assess instrument architecture. Genetic loci were annotated using FUMA SNP2GENE and GTEx eQTL mapping, and molecular evidence was explored using ssGSEA, differential-expression analysis, functional enrichment, PPI analysis, and exploratory candidate-gene prioritization.

Genetically predicted sunburn susceptibility was inversely associated with TAA (inverse-variance weighted OR = 0.403, 95% CI = 0.216–0.752, P = 0.004). However, this association was attenuated after exclusion of 11 pigmentation-related SNPs. Transcriptomic analyses implicated UV-response signatures, matrix and vascular remodeling, immune trafficking, ERK signaling, cell junctions, and vesicle-related processes. Integrated analyses identified HYAL1 and PREPL as priority candidates for further exploration.

The association between sunburn susceptibility and TAA appeared to be largely driven by the pigmentation and tanning-response genetic architecture. Exploratory evidence linked phototype-related variation to matrix turnover, intracellular trafficking, and vascular remodeling.

# # # # # #

CVIA is available on the ScienceOpen platform and at Cardiovascular Innovations and Applications. Submissions may be made using ScholarOne Manuscripts. There are no author submission or article processing fees. Cardiovascular Innovations and Applications is indexed in the EMBASE, EBSCO, ESCI, OCLC, Primo Central (Ex Libris), Sherpa Romeo, NISC (National Information Services Corporation), DOAJ, Index Copernicus, Research4Life and Ulrich’s web Databases. Follow CVIA on Twitter @CVIA_Journal; or Facebook.

Wenhai Pan, Wei Xu and Liuzexuan Sheng et al. Genetic Insights Into the Association Between Sunburn Susceptibility and Thoracic Aortic Aneurysm Through Integrated Genomic and Transcriptomic Analyses. CVIA. 2026. Vol. 11(1). DOI: 10.15212/CVIA.2026.0023