Autoimmune protection (IL23R R381Q)

IL23R is a receptor that drives a branch of the immune system involved in inflammation. A relatively uncommon variant (R381Q) turns that signal down and is protective against several immune diseases, including Crohn's disease, psoriasis and ankylosing spondylitis.

Possible results

Typical IL23R (no protective variant). You have the common version of IL23R, so as far as this gene goes, your inflammatory immune signalling is at the typical baseline. You don't carry the protective variant, which is the most common situation and says nothing unusual.

Some autoimmune protection (IL23R). You carry one copy of the protective IL23R variant, which dampens a pro-inflammatory immune signal and is linked to lower risk of Crohn's disease, psoriasis and ankylosing spondylitis. It's a favorable variant, though it only shifts the odds.

Strong autoimmune protection (IL23R). You have two copies of the protective IL23R variant (uncommon), strongly linked to lower risk of Crohn's disease, psoriasis and ankylosing spondylitis. The same immune pathway is the target of several modern anti-inflammatory drugs, a sign of how relevant it is.

Evidence & sources

Across global populations, fewer than 1% of people carry two copies of this variant, and about 89% carry none.

This variant appears in 19 published genetic studies: PubMed 17447842 · PubMed 18758464 · PubMed 19122664 · PubMed 19915572 · PubMed 20062062 · PubMed 20953190 · PubMed 21102463 · PubMed 21297633 · PubMed 21743469 · PubMed 22293688 · PubMed 22412388 · PubMed 22936669 · PubMed 23128233 · PubMed 23749187 · PubMed 25574825 · PubMed 28008999 · PubMed 37377963 · PubMed 39789286 · PubMed 41661118.

Related

Age-related macular degeneration risk · Breast cancer (female) · Depression · Diastolic blood pressure · Inflammatory bowel disease · Type 2 diabetes protection (PPARG Pro12Ala) · Venous thromboembolism (clots)