Genome-wide association analysis and replication in 810,625 individuals with varicose veins

Waheed-Ul-Rahman Ahmed, Sam Kleeman, Michael Ng, Wei Wang, Adam Auton, Regent Lee, Ashok Handa, Krina T. Zondervan, Akira Wiberg and Dominic Furniss ()
Additional contact information
Waheed-Ul-Rahman Ahmed: University of Oxford, Botnar Research Centre, Windmill Road
Sam Kleeman: Cold Spring Harbor Laboratory
Michael Ng: University of Oxford, Botnar Research Centre, Windmill Road
Wei Wang: 23andMe, Inc.
Adam Auton: 23andMe, Inc.
Regent Lee: University of Oxford, John Radcliffe Hospital
Ashok Handa: University of Oxford, John Radcliffe Hospital
Krina T. Zondervan: University of Oxford, John Radcliffe Hospital
Akira Wiberg: University of Oxford, Botnar Research Centre, Windmill Road
Dominic Furniss: University of Oxford, Botnar Research Centre, Windmill Road

Nature Communications, 2022, vol. 13, issue 1, 1-11

Abstract: Abstract Varicose veins affect one-third of Western society, with a significant subset of patients developing venous ulceration, costing $14.9 billion annually in the USA. Current management consists of either compression stockings, or surgical ablation for more advanced disease. Most varicose veins patients report a positive family history, and heritability is ~17%. We describe the largest two-stage genome-wide association study of varicose veins in 401,656 individuals from UK Biobank, and replication in 408,969 individuals from 23andMe (total 135,514 cases and 675,111 controls). Forty-nine signals at 46 susceptibility loci were discovered. We map 237 genes to these loci, several of which are biologically plausible and tractable to therapeutic targeting. Pathway analysis identified enrichment in extracellular matrix biology, inflammation, (lymph)angiogenesis, vascular smooth muscle cell migration, and apoptosis. Using a polygenic risk score (PRS) derived in an independent cohort, we demonstrate its predictive utility and correlation with varicose veins surgery.

Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41467-022-30765-y Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-30765-y

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/s41467-022-30765-y

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().