Genetics of facial telangiectasia in the Rotterdam Study: ca
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The severity of facial telangiectasia or red veins is associated with many lifestyle factors. However, the genetic predisposition remains unclear. A genome wide association study (GWAS) on facial telangiectasia in the Rotterdam Study (RS) was performed and tested for replication in two independent cohorts. Additionally, a candidate gene approach with known pigmentation genes was performed.

Facial telangiectasia were extracted from standardized facial photographs (collected from 2010-2013) of 2,842 northwestern European participants (median age 66.9, 56.8% female) from the RS. GWAS top hits 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 biobank database. SNP based associations between known pigmentation genes and facial telangiectasia were tested. Conditional analysis on skin color was additionally performed.

The 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 color.

In this GWAS on telangiectasia 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 color and telangiectasia.