Common ACE2 variants: no effect on physiology

A study shows that common variations of the ACE2 gene don't affect factors like blood pressure...
14 May 2020

Interview with 

Serena Sanna, Italian National Council of Research


A patient's blood pressure being tested by a doctor.


Evidence on host genetics in is coming in all the time, from different methods and sources. A study from the Italian National Council of Research seems to show that common variation in the ACE2 gene doesn’t seem to affect much in the way of bodily traits like blood pressure - at least for healthy people. Phil Sansom spoke to Serena Sanna, one of the researchers...

Serena - We found that none of the common genetic variation in this gene are associated with physiological variation between individuals. So there's no impact in regulating cholesterol level or your weight.

Phil - Nothing at all?

Serena - No, not among all the 150 different measurements that we considered.

Phil - How did you figure this out?

Serena - So we looked at more than 30,000 volunteers. They all live in the North of the Netherlands. So we have genetic information of those individuals. So we looked at this ACE2 gene and there are roughly 1000 variants in that gene that are common, means they are present in at least 1 person in every 100. We compare the different variation to their corresponding level of blood pressure or glucose or cholesterol and so on.

Phil - If you found no associations, what's the most surprising? Were there any that you thought might be there that you just found nothing for?

Serena - Well, the first question was, is this gene involved, for example, in blood pressure or glucose? Because we are seeing a lot of coronavirus patients that also have hypertension or diabetes. But in reality this was not. So, if there is any explanation for this, probably comes from other genes or from some other factors.

Phil - So out of all these like a thousand different versions of this gene that a few people have, it doesn't seem to affect any of your physical stuff at all.

Serena - Yes.

Phil - What does this mean for people?

Frances - This means that for the coronavirus infection, this gene is probably not having any role in making symptoms worse in terms of hypertension and diabetes.

Phil - You've been talking about common variants specifically. Does that mean that they're rare ones that you didn't look at?

Serena - Yes, correct. There are rare variants in these genes that we did not look at because we looked at 30,000 volunteers, but for rare variants, so variants that are present in 1 in every 10,000, we really didn't have enough numbers. So we did not look at this specific category of genetic variant, which might still play a role and infection. And usually rare variants in the genome have a higher impact than common variation.


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