Multi-biobank genome-wide association study of dermatochalasis implicates genes involved in skin biology and…

Abstract

ObjectiveThe objective of this study was to detect genetic factors associated with dermatochalasis using a genome-wide association study (GWAS) across three large cohorts.

DesignGWAS meta-analysis

ParticipantsA total of 13,200 dermatochalasis cases and 962,513 controls were included.

MethodsA GWAS meta-analysis of dermatochalasis combining data from the FinnGen, the Estonian Biobank and the UK Biobank was conducted. We also performed colocalization analyses, a phenome-wide association study and age-at-onset analysis, and assessed genetic correlations with various diseases and traits.

Main outcome measuresIdentification of genetic variants associated with dermatochalasis.

ResultsWe identified 18 loci associated with dermatochalasis at genome-wide significance, majority of which had not been previously described. Most of these loci had genes involved in skin biology and cutaneous diseases, such as the genes encoding elastin (ELN) and Latent TGF-{beta} binding protein 1 (LTBP1). Phenome-wide association study revealed previous associations with morphology-related traits, while genetic correlation analysis highlighted multiple genetic correlations, especially with smoking and pain.

ConclusionsWe detected 18 genetic loci associated with dermatochalasis, characterized these loci in detail and demonstrated their relevance in skin biology and related processes. These findings give novel information on the genetic background of dermatochalasis and provide a solid basis for further research.

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BibTeX RIS

BibTeX

@misc{rajueni2026multibiobank,
  title = {{Multi-biobank genome-wide association study of dermatochalasis implicates genes involved in skin biology and morphology}},
  author = {K. Rajueni and F. Koskimäki and V. Salo and A. Pasanen and E. Sliz and S. Vanhala and K. Reis and A. Reigo and Estonian Biobank Research, FinnGen Team and P. Palta and K. Tasanen and J. Liinamaa and J. Kettunen and V. Saarela and M. K. Karjalainen},
  howpublished = {medRxiv},
  year = {2026},
  month = aug,
  doi = {10.64898/2026.08.04.26359692},
  url = {https://www.medrxiv.org/content/10.64898/2026.08.04.26359692v2},
  note = {CC BY-ND},
}

RIS

TY  - UNPB
TI  - Multi-biobank genome-wide association study of dermatochalasis implicates genes involved in skin biology and morphology
AU  - K. Rajueni
AU  - F. Koskimäki
AU  - V. Salo
AU  - A. Pasanen
AU  - E. Sliz
AU  - S. Vanhala
AU  - K. Reis
AU  - A. Reigo
AU  - Estonian Biobank Research, FinnGen Team
AU  - P. Palta
AU  - K. Tasanen
AU  - J. Liinamaa
AU  - J. Kettunen
AU  - V. Saarela
AU  - M. K. Karjalainen
PY  - 2026
DA  - 2026/08/04
PB  - medRxiv
DO  - 10.64898/2026.08.04.26359692
UR  - https://www.medrxiv.org/content/10.64898/2026.08.04.26359692v2
AB  - ObjectiveThe objective of this study was to detect genetic factors associated with dermatochalasis using a genome-wide association study (GWAS) across three large cohorts.  DesignGWAS meta-analysis  ParticipantsA total of 13,200 dermatochalasis cases and 962,513 controls were included.  MethodsA GWAS meta-analysis of dermatochalasis combining data from the FinnGen, the Estonian Biobank and the UK Biobank was conducted. We also performed colocalization analyses, a phenome-wide association study and age-at-onset analysis, and assessed genetic correlations with various diseases and traits.  Main outcome measuresIdentification of genetic variants associated with dermatochalasis.  ResultsWe identified 18 loci associated with dermatochalasis at genome-wide significance, majority of which had not been previously described. Most of these loci had genes involved in skin biology and cutaneous diseases, such as the genes encoding elastin (ELN) and Latent TGF-{beta} binding protein 1 (LTBP1). Phenome-wide association study revealed previous associations with morphology-related traits, while genetic correlation analysis highlighted multiple genetic correlations, especially with smoking and pain.  ConclusionsWe detected 18 genetic loci associated with dermatochalasis, characterized these loci in detail and demonstrated their relevance in skin biology and related processes. These findings give novel information on the genetic background of dermatochalasis and provide a solid basis for further research.
ER  -

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