Autoimmune risk (PTPN22 R620W)
PTPN22 · Health · Evidence ★★★★☆
PTPN22 helps set how easily immune cells switch on. A common variant (R620W) makes the immune system a bit more trigger-happy and is one of the strongest common risk factors shared across several autoimmune diseases, like rheumatoid arthritis, type 1 diabetes and lupus.
Possible results
No PTPN22 risk variant. You don't carry the PTPN22 R620W variant, so as far as this strong shared autoimmune-risk gene goes, your risk sits at the baseline. Autoimmune conditions depend on many genes and the environment, so this is just one piece.
Higher autoimmune risk (PTPN22). You carry one copy of the PTPN22 R620W variant, which makes your immune system a little more trigger-happy and modestly raises risk for several autoimmune conditions (such as rheumatoid arthritis, type 1 diabetes and lupus). Most carriers never develop any of them, so it's a shared risk factor, not a prediction.
High autoimmune risk (PTPN22). You have two copies of the PTPN22 R620W variant (uncommon), which raises your risk across several autoimmune diseases more than a single copy. Even so, most people with this genotype stay healthy. It's useful background if autoimmune symptoms ever come up or run in your family.
Evidence & sources
Across global populations, fewer than 1% of people carry two copies of this variant, and about 84% carry none.
This variant appears in 39 published genetic studies: PubMed 17554260 · PubMed 17632545 · PubMed 17804836 · PubMed 19430480 · PubMed 19503088 · PubMed 19838195 · PubMed 20410501 · PubMed 20453842 · PubMed 21156761 · PubMed 21829393 · PubMed 22922229 · PubMed 23143596 · PubMed 24390342 · PubMed 24449572 · PubMed 24532676 · PubMed 25751624 · PubMed 25936594 · PubMed 26502338 · PubMed 27193031 · PubMed 27399966 · PubMed 27723757 · PubMed 28714469 · PubMed 30254083 · PubMed 30423114 · PubMed 30572963 · PubMed 30573655 · PubMed 30595370 · PubMed 30891314 · PubMed 32581359 · PubMed 33686288 · PubMed 34594039 · PubMed 34737425 · PubMed 35470158 · PubMed 36333501 · PubMed 36750564 · PubMed 37002690 · PubMed 39024449 · PubMed 39749473 · PubMed 41748903.
Related
Alzheimer's disease · Atrial fibrillation · Body mass (BMI) tendency · Breast cancer (female) · Coronary artery disease risk (9p21) · Rheumatoid arthritis · Type 2 diabetes
References: dbSNP · GWAS Catalog · PubMed · ClinVar · SNPedia
Educational and informational only, not medical advice.
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