The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F22%3AN0000070" target="_blank" >RIV/00023728:_____/22:N0000070 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/22:10442760 RIV/00216208:11110/22:10442760
Result on the web
<a href="https://pubmed.ncbi.nlm.nih.gov/34870401/" target="_blank" >https://pubmed.ncbi.nlm.nih.gov/34870401/</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/RHU.0000000000001727" target="_blank" >10.1097/RHU.0000000000001727</a>
Alternative languages
Result language
angličtina
Original language name
The Examination of a TPMT Gene Before Administration of Azathioprine in Rheumatology Practice and Identification of a Novel Variant p.W29R.
Original language description
Background In individuals with reduced thiopurine S-methyltransferase activity, undesirable adverse effects can occur during treatment with azathioprine (AZA). This condition affects approximately 11% of the European population, and it is genetically determined by variants in the TPMT gene. Approximately 0.3% of those of European origin have dysfunctional TPMT variants, which puts them at risk of developing life-threatening bone marrow toxicity. Our goal was to estimate the prevalence of TPMT gene mutations in Czech patients with rheumatic diseases and to assess the adverse effects associated with AZA therapy in these patients. Methods Two-hundred patients were assessed for the presence of genetic allelic variants using PCR amplification and direct sequencing. Results In 19 patients, we detected genetic allelic variants affecting TPMT activity; in 1 case, it was an unpublished heterozygous variant c.85T>C (p.W29R); of those, 15 patients were switched from AZA to a different medication, and 1 patient was prescribed a reduced dose of AZA. Conclusions Our findings show the importance of testing for variants of the TPMT gene before the administration of AZA in clinical rheumatology practice. Patients with documented episodes of leukopenia or elevated liver biochemical tests while on AZA should undergo TPMT genotype testing and/or TPMT enzyme activity testing.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30226 - Rheumatology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
ISSN
1076-1608
e-ISSN
1536-7355
Volume of the periodical
28
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
E363-E367
UT code for WoS article
000759079900018
EID of the result in the Scopus database
2-s2.0-85125010632