Are you genetically resistant to AIDS?

There is a gene called CCR5 that can have a variation that prevents AIDS. You need to have two copies, one from each parent, to be immune to AIDS. If you have only one copy, your resistance is increased. The current theory is that this mutation became prevalent in Europeans after the ravages of smallpox or perhaps the Black Death and was selected for, since it is presumed protective against those diseases. It is more frequent in Northern Europe than Southern, but is found as far south as North Africa.

from wikipedia – By US National Institutes of Health – National Institute of Allergy and Infectious Diseases – US National Institutes of Health – National Institute of Allergy and Infectious Diseases, Public Domain, Link

The down side is that this CCR5 change may increase your risk of an abdominal aortic aneurysm and put you at risk for complications from various viruses like West Nile or tick born encephaliitis. Wikipedia has an excellent and detailed article about CCR5 here.

This AIDs protective variation is actually the loss of 32 alleles (so it is called delta 32) on chromosome 3 at location 46414947.

It is that change that the Genetics researcher He Jiankui claims to have made on two embryos in China using CRISPR technology which has caused such an uproar around the world. Click here for the NPR article about that which mentions that their father is HIV positive.

If you have tested your DNA at 23andme, you can check your own CCR5 for the delta 32 variation which is known as i3003626 there. Here’s how

 

Click on your name or image on the top left of any page at 23andme to get a drop down menu.

 

Then click on Browse Raw Data in that menu.

 

On the raw data page type i3003626 into the large box above the chromosome picture then click the enter key.

Here are examples of what you might see.

No deletes, so no delta 32 in this CCR5

One delete, so one delta 32 in this CCR5, resistant

AIDS immunity, two deletes, a Delta 32 from each parent

 

Some further reading, very technical:

https://www.snpedia.com/index.php/Rs333

https://www.ncbi.nlm.nih.gov/pubmed/16216086?dopt=Abstract

https://www.pnas.org/content/100/25/15276.long

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13 thoughts on “Are you genetically resistant to AIDS?

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  1. Interesting. I didn’t do the 23andMe health test but uploaded my results to Promethease. My results said that while I’m not immune to HIV I have greater resistance to AIDS than most other people. I wonder if this is connected. 23andMe does say that I have more Neanderthal DNA than most testers. I read recently that Neanderthals would have had immunities or resistance to HIV.

  2. I was so surprised to see your post about this. I too have two copies! My ancestors are from Northern Ireland. I tried to research it but found little information other then what you have found. I wonder if having two copies would reveal any genealogy lines. I thought I read one 1 % of the population has 2 copies.

    • I don’t know that I have 2 copies, but I may have 1 as I’m apparently not immune, but would have a slower progression to AIDS. My father’s ancestors were from Northern Ireland.

    • C –
      What is unclear about “This AIDs protective variation is actually the loss of 32 alleles”? Therefore no deletes = no immunity from this particular genetic variation.

      • Well that is a lucky mutation for you to have then.

        I removed your email address from your post because I like to preserve privacy but if you really want the spam you will get, I can put it back!

  3. The CCR5 delta 32 test on 23 and me result, what package is that result on, is it on the ancestry and health or only non the VIP. I am Northern European stock, my mothers side has been done through an Aunt but not my fathers. I would be interested in dna testing.

    My family has been hit badly by cancer, rare forms too, I would certainly be interested in seeing possible markers for this.

    Thanks

    • David,
      Only 23andme shows the CCR5. I have not yet evaluated the Ancestr6 or MyHeritage health tests but the raw data from ancestry did not show the CCR5
      If your family has been hit hard by cancer then you might talk to your doctor about doing the color genomics test which is specific for various cancer markers but needs doctor supervision. A friend with this same family issue and prostate cancer did that test which found a BRCA2 deletion not shown in his 23andme results.

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