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Varicose veins are a very common manifestation of chronic venous disease, affecting over 30% of the population in Western countries. In America, chronic venous disease affects over 11 million men and 22 million women aged 40–80 years old. Left untreated it can escalate to multiple health complications including leg ulcers and ultimately amputations. A new international study by Oxford researchers published on 2 June 2022 in Nature Communications establishes for the first time, a critical genetic risk score to predict the likelihood of patients suffering with varicose veins to require surgery, as well as pointing the way towards potential new therapies.

Varicose veins on a woman's leg

In a vast two-stage genome-wide association study of varicose veins in 401,656 individuals from UK Biobank, and replication in 408,969 individuals from 23andMe, Oxford researchers identified 49 genetic variants that increase the risk of varicose veins. They highlighted pathways including problems with the connective tissues of the body, and the immune system as key players in varicose vein pathology.

This study was an interdisciplinary collaborative effort across the Medical Sciences Division at the University of Oxford. Researchers from the Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, the Nuffield Department of Surgical Sciences and the Nuffield Department of Women's & Reproductive Health  worked with an American commercial, direct to consumer genotyping company called 23andMe to explore which people were more susceptible to developing Varicose veins.

Lead author Professor Dominic Furniss commented:

'The inclusion of surgeons in the research team was vital as they enabled the identification of patients whose disease was more severe, and they had therefore had surgery. This lead to the discovery of 49 genetic variants at 46 areas into the genome that predisposes to Varicose veins. This breakthrough greatly improves our team's knowledge of the biology of Varicose veins, and it will be the foundation of further research into the biology and potentially new treatment'. 

Co-author Professor Krina Zondervan said:

'This large study brings together a great deal of new evidence of the genetics underlying varicose veins, a condition that is highly prevalent in women and in pregnancy. It opens up exciting new avenues for the development of new future treatments.'

Professor Ashok Handa and Associate Professor Regent Lee are also co-authors on this paper. 

The full paper, 'Genome-wide association analysis and replication in 810,625 individuals with varicose veins,' is available in Nature Communications.

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