The genetics of gout: translation into clinical practice
Gout results from an innate immune response to monosodium urate crystals deposited in joints in people with hyperuricemia. Central to this is activation of the NLRP3 inflammasome and secretion of interleukin-1β. The pathogenic mechanism of NLRP3 inflammasome activation in gout is not well understood...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-08-01
|
| Series: | Therapeutic Advances in Musculoskeletal Disease |
| Online Access: | https://doi.org/10.1177/1759720X251366360 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849224182159638528 |
|---|---|
| author | Tony R. Merriman Fiorella Rosas-Chavez Lisa K. Stamp |
| author_facet | Tony R. Merriman Fiorella Rosas-Chavez Lisa K. Stamp |
| author_sort | Tony R. Merriman |
| collection | DOAJ |
| description | Gout results from an innate immune response to monosodium urate crystals deposited in joints in people with hyperuricemia. Central to this is activation of the NLRP3 inflammasome and secretion of interleukin-1β. The pathogenic mechanism of NLRP3 inflammasome activation in gout is not well understood. However, recent genome-wide association studies (GWAS) in gout have revealed new pathogenic pathways, for example, genes involved in NLRP3 inflammasome activation and activity, and genes involved in clonal hematopoiesis of indeterminate potential. Genetic risk variants identified by GWAS are being used in Mendelian randomization studies to understand putative causal relationships between gout and co-morbid conditions (e.g., insulin resistance is causal of hyperuricemia). The genetic risk variants can also be combined into a genetic risk score to predict outcome in gout. Finally, inherited genetic variants influence response to allopurinol, in particular the p.Gln141Lys variant in ABCG2. |
| format | Article |
| id | doaj-art-ed4dff77a52b4f02b104da8fb5ea3d2a |
| institution | Kabale University |
| issn | 1759-7218 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Therapeutic Advances in Musculoskeletal Disease |
| spelling | doaj-art-ed4dff77a52b4f02b104da8fb5ea3d2a2025-08-25T15:03:44ZengSAGE PublishingTherapeutic Advances in Musculoskeletal Disease1759-72182025-08-011710.1177/1759720X251366360The genetics of gout: translation into clinical practiceTony R. MerrimanFiorella Rosas-ChavezLisa K. StampGout results from an innate immune response to monosodium urate crystals deposited in joints in people with hyperuricemia. Central to this is activation of the NLRP3 inflammasome and secretion of interleukin-1β. The pathogenic mechanism of NLRP3 inflammasome activation in gout is not well understood. However, recent genome-wide association studies (GWAS) in gout have revealed new pathogenic pathways, for example, genes involved in NLRP3 inflammasome activation and activity, and genes involved in clonal hematopoiesis of indeterminate potential. Genetic risk variants identified by GWAS are being used in Mendelian randomization studies to understand putative causal relationships between gout and co-morbid conditions (e.g., insulin resistance is causal of hyperuricemia). The genetic risk variants can also be combined into a genetic risk score to predict outcome in gout. Finally, inherited genetic variants influence response to allopurinol, in particular the p.Gln141Lys variant in ABCG2.https://doi.org/10.1177/1759720X251366360 |
| spellingShingle | Tony R. Merriman Fiorella Rosas-Chavez Lisa K. Stamp The genetics of gout: translation into clinical practice Therapeutic Advances in Musculoskeletal Disease |
| title | The genetics of gout: translation into clinical practice |
| title_full | The genetics of gout: translation into clinical practice |
| title_fullStr | The genetics of gout: translation into clinical practice |
| title_full_unstemmed | The genetics of gout: translation into clinical practice |
| title_short | The genetics of gout: translation into clinical practice |
| title_sort | genetics of gout translation into clinical practice |
| url | https://doi.org/10.1177/1759720X251366360 |
| work_keys_str_mv | AT tonyrmerriman thegeneticsofgouttranslationintoclinicalpractice AT fiorellarosaschavez thegeneticsofgouttranslationintoclinicalpractice AT lisakstamp thegeneticsofgouttranslationintoclinicalpractice AT tonyrmerriman geneticsofgouttranslationintoclinicalpractice AT fiorellarosaschavez geneticsofgouttranslationintoclinicalpractice AT lisakstamp geneticsofgouttranslationintoclinicalpractice |