The following is a lay summary of the article “Genome-wide Association Study of Peripheral Artery Disease in the Million Veteran Program”. That article can be found here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768096/  

A research team has discovered certain genetic elements linked to a higher risk of developing Peripheral Artery Disease (PAD). One of these genetic elements is called “Factor V” or Factor 5, which is a blood protein related to clotting. Mutations in Factor V, known as Factor V Leiden, increase clotting risk. This condition may lead to a higher risk of developing PAD.

The study showed a 20% increased risk of developing PAD for people with European ancestry and Factor V. Also, Factor V carriers have a 62% higher chance of having an amputation due to PAD. Those with the Factor V mutation who smoked had an even higher risk than those who did not.

This team used data that is part of the “Million Veteran Program”. About 10% of people over age 55 in this study’s sample have PAD. This makes it a lot easier to identify what those people have in common, from a genetic standpoint. By analyzing this data, researchers found a statistically significant relationship between certain genetic factors and PAD. Importantly, this research covered DNA samples of diverse populations from European, African, and Hispanic origins. However, there was a much higher percentage of males in this study sample.

PAD is a common condition and affects millions of Americans – you can read more about it here. This study took a look at over 30,000 people with PAD. Of course, some of the findings line up with what we already know about PAD. For example, people with PAD are more likely to be “older, male, prescribed statin therapy (to lower cholesterol), have a history of smoking…and type 2 diabetes”. This study also took a look at the different vascular diseases related to PAD. They linked each disease to 19 different genetic locations that presented a higher risk of developing PAD.

One particular disease pathway that they identified was the influence of Factor V Leiden on Venous Thromboembolism. Basically, a specific mutation of the Factor V blood protein leads to a higher risk of blood clots. This research study found “significant associations” between people who have Factor V Leiden and different presentations of PAD, including PAD that presents with pain during walking, pain at rest, and even amputation. This was especially true for the Factor V genetic mutation – this means blood clots which block arteries may relate more to PAD than some other vascular diseases.

Luckily, the study discusses how finding this link between Factor V Leiden and PAD means we might be able to lower risk by targeting blood clotting mechanisms. What does this mean for you? If you or someone in your family has Factor V Leiden, you may have an increased risk of developing PAD. Though this is still new research, it’s worth talking to your provider about your risk, especially if you are over the age of 50, are on statins, or have Type II diabetes.

For more information, you can read the full study here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6768096/

And read about Factor V Leiden and PAD on our website here:

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