Recurrence of Graves' Disease: What Genetics of HLA and PTPN22 Can Tell Us
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023761%3A_____%2F21%3AN0000032" target="_blank" >RIV/00023761:_____/21:N0000032 - isvavai.cz</a>
Result on the web
<a href="https://www.frontiersin.org/article/10.3389/fendo.2021.761077" target="_blank" >https://www.frontiersin.org/article/10.3389/fendo.2021.761077</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fendo.2021.761077" target="_blank" >10.3389/fendo.2021.761077</a>
Alternative languages
Result language
angličtina
Original language name
Recurrence of Graves' Disease: What Genetics of HLA and PTPN22 Can Tell Us
Original language description
Approximately half of patients diagnosed with Graves' disease (GD) relapse within two years of thyreostatic drug withdrawal. It is then necessary to decide whether to reintroduce conservative treatment that can have serious side effects, or to choose a radical approach. Familial forms of GD indicate a significant genetic component. Our aim was to evaluate the practical benefits of HLA and PTPN22 genetic testing for the assessment of disease recurrence risk in the Czech population. In 206 patients with GD, exon 2 in the HLA genes DRB1, DQA1, DQB1 and rs2476601 in the gene PTPN22 were sequenced. The risk HLA haplotype DRB1*03-DQA1*05-DQB1*02 was more frequent in our GD patients than in the general European population. During long-term retrospective follow-up (many-year to lifelong perspective), 87 patients relapsed and 26 achieved remission lasting over 2 years indicating a 23% success rate for conservative treatment of the disease. In 93 people, the success of conservative treatment could not be evaluated (thyroidectomy immediately after the first attack or ongoing antithyroid therapy). Of the examined genes, the HLA-DQA1*05 variant reached statistical significance in terms of the ability to predict relapse (p=0.03). Combinations with either both other HLA risk genes forming the risk haplotype DRB1*03-DQA1*05-DQB1*02 or with the PTPN22 SNP did not improve the predictive value.
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
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
FRONTIERS IN ENDOCRINOLOGY
ISSN
1664-2392
e-ISSN
1664-2392
Volume of the periodical
12
Issue of the periodical within the volume
November
Country of publishing house
CH - SWITZERLAND
Number of pages
8
Pages from-to
761077
UT code for WoS article
000727672500001
EID of the result in the Scopus database
2-s2.0-85120864654