Genetics of facial telangiectasia in the Rotterdam Study: a genome-wide association study and candidate gene approach

S. Mekić, C. Wigmann, D. A. Gunn, L. C. Jacobs, M. Kayser, T. Schikowski, T. Nijsten*, L. M. Pardo

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)
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Background: The severity of facial telangiectasia or red veins is associated with many lifestyle factors. However, the genetic predisposition remains unclear. Objectives: We performed a genome-wide association study (GWAS) on facial telangiectasia in the Rotterdam Study (RS) and tested for replication in two independent cohorts. Additionally, a candidate gene approach with known pigmentation genes was performed. Methods: Facial telangiectasia were extracted from standardized facial photographs (collected from 2010–2013) of 2842 northwestern European participants (median age 66.9, 56.8% female) from the RS. Our GWAS top hits (P-value <10−6) were tested for replication in 460 elderly women of the SALIA cohort and in 576 additional men and women of the RS. Associations of top single nucleotide polymorphisms (SNPs) with expression quantitative trait loci (eQTL) in various tissues were reviewed (GTEx database) alongside phenotype associations in the UK biobank database. SNP-based associations between known pigmentation genes and facial telangiectasia were tested. Conditional analysis on skin colour was additionally performed. Results: Our most significant GWAS signal was rs4417318 (P-value 5.38*10−7), an intergenic SNP on chromosome 12 mapping to the SLC16A7 gene. Other suggestive SNPs tagged genes ZNF211, ZSCAN4, ICOS and KCNN3; SNP eQTLs and phenotype associations tagged links to the vascular system. However, the top signals did not pass significance in the two replication cohorts. The pigmentation genes KIAA0930, SLCA45A2 and MC1R, were significantly associated with telangiectasia in a candidate gene approach but not independently of skin colour. Conclusion: In this GWAS on telangiectasia in a northwestern European population, no genome-wide significant SNPs were found, although suggestive signals indicate genes involved in the vascular system might be involved in telangiectasia. Significantly associated pigmentation genes underline the link between skin colour and telangiectasia.

Original languageEnglish
Pages (from-to)749-754
Number of pages6
JournalJournal of the European Academy of Dermatology and Venereology
Issue number3
Publication statusPublished - Mar 2021

Bibliographical note

Funding Information:
sources This study is funded by Unilever. The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University Rotterdam; Netherlands Organization for the Health Research and Development (ZonMw); the Research Institute for Diseases in the Elderly (RIDE); the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. Author SM is supported by Unilever and author DAG is Unilever employee. The SALIA study was funded by the Deutsche Forschungsgemeinschaft (DFG; HE-4510/2-1, KR 1938/3-1, LU 691/4-1), by the Ministry of the Environment of the state North Rhine-Westphalia (D?sseldorf, Germany), by the Federal Ministry of the Environment (Berlin, Germany) and the DGUV (German statutory accident assurance) VT 266.1. The Genotype-Tissue Expression (GTEx) was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS.

Publisher Copyright:
© 2020 European Academy of Dermatology and Venereology


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